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Archive for the ‘Genetic Testing’ Category

Genetic Testing for Cancer: Benefits, Risks, Cost, and More – Healthline

Cancer is a condition where some of the bodys cells grow and divide in a way that can be difficult to manage.

Typically, the growth and division of cells is tightly managed and there are many genes that regulate these processes.

When certain genetic changes occur within cells, the way that they grow and divide can become atypical and develop into cancer. There are several factors involved in genetic changes that may lead to developing cancer.

While environmental and lifestyle factors can lead to some of these changes, an individuals genetics also play an important role. Its possible to inherit some gene changes that increase your risk of developing certain types of cancer.

Genetic testing is available to help detect some of the genetic changes that can increase the risk of developing cancer. Keep reading to learn more about this testing, its potential benefits, and whos a good candidate.

Genetic testing is a tool that can be used to learn about inherited cancer risks. Some examples of cancers where specific genes appear to play a role in cancer risk include:

Other cancers where specific genes appear to play a role in cancer risk include some cancers of your:

Genetic testing looks for variations in genes that are associated with an increased risk of cancer. The National Cancer Institute estimates that inherited gene variants contribute to 5 to 10 percent of all cancers.

There are many options for genetic testing. For example, your healthcare professional may recommend a test to look for variants in a single gene. There are also panel tests that can detect variants in several genes.

There are several components that are associated with genetic testing for cancer. Lets explore each of them below:

A healthcare professional, such as a doctor or genetic counselor, will look at both your personal and family medical history to determine if youre a good candidate for genetic testing.

A genetic counselor will work to give you additional information that can help you decide if you want to get tested. This can include information on:

Genetic counselors are also important after testing. They can help you interpret your results and discuss what to do moving forward.

If you decide to get tested, youll be asked to sign an informed consent document. This document confirms that youve been told about things like:

The testing procedure typically involves collecting a blood sample from a vein in your arm. However, it may also be a sample of:

The sample is then analyzed by a lab that specializes in genetic testing. Its possible that it can take several weeks for results to be ready.

When results are available, theyre typically sent to your genetic counselor, who will then contact you to discuss them and develop a plan for next steps.

The different results that you can receive are:

Genetic testing for cancer can have several potential benefits. These can include:

A healthcare professional may recommend genetic testing for cancer when:

Now lets look at some examples of situations where you may consider genetic testing for cancer.

Someone with a strong family history of developing certain types of cancer may choose to get tested to find out their risk level. This is typically the case if:

For example, someone with both a mother and sister that have been diagnosed with breast cancer may choose to be tested for variations in the BRCA1 and BRCA2 genes.

If the test has a positive result, this person can then begin to take preventative steps. These can include things like:

A person thats already been diagnosed with cancer may wish to see if an inheritable factor is present. This is particularly true if they have a family history of certain types of cancer or if they received their diagnosis younger than 50 years old.

Knowing that a relative has a specific genetic variation that increases cancer risk can be beneficial for family members as well. It may prompt them to get genetic testing themselves.

Genetic testing isnt perfect. If you do receive a positive test result for a specific gene variant, it doesnt mean that youll develop cancer. It just means that your risk of developing cancer is increased.

Additionally, remember that all cancers are different. Because of this, different types of variations are associated with different levels of risk. Your genetic counselor will discuss this with you when you get your results.

According to Breastcancer.org, the cost of genetic testing for cancer can vary greatly and can be between $300 and $5,000. How much genetic testing costs can depend on the type of test as well as how complex it is.

What exactly is covered will depend on your specific health insurance plan. Many plans will offer some coverage if genetic testing is considered medically necessary.

If youre considering genetic testing for cancer, contact your insurance provider before getting tested. They can help inform you about what is and isnt covered.

Recently, home-based genetic testing has increased in popularity. These tests typically involve using a swab to collect a sample from your mouth. You then mail this sample back and get your results by:

You may be curious if home-based genetic tests are good for determining your cancer risk.

Overall, its best to talk with a healthcare professional if youre interested in genetic testing to assess your cancer risk. Some reasons for this include:

Genetic testing can help determine if you have certain genetic variations that place you at an increased risk of developing cancer. Its often done when you have a family or personal history of certain types of cancer.

There are many benefits to genetic testing. For example, a negative test result may offer some peace of mind. Or, a positive result could help you start taking steps that can prevent cancer from occurring.

Genetic testing does have limitations. A positive test result doesnt mean with certainty that youll develop cancer, Meanwhile, a negative test result doesnt mean that youll never develop cancer over the course of your lifetime.

A healthcare professional or genetic counselor will work with you to help you decide if genetic testing is right for you. If you do decide to get tested, they can also walk you through what the results mean as well as discuss next steps.

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Genetic Testing for Cancer: Benefits, Risks, Cost, and More - Healthline

Information about Genetic Health Risk reports – 23andMe

Important

There are many things to think about when deciding whether genetic testing is right for you. Although these tests can provide important information about health risks, they can also be upsetting or raise questions about what the results mean. Genetic tests also have certain limitations that are important to understand. Your personal and family medical history, as well as your goals for testing, should all factor into your decisions about whether and how to test.

A genetic counselor, a healthcare professional with special training in genetic conditions, will be able to answer your questions and help you make an informed choice. We recommend that you speak with a genetic counselor before testing, and also after testing to help you understand your results and what actions you should take. This is especially important for health conditions that are preventable or treatable.

Talk to your healthcare provider or click here to search for a genetic counselor near you (this link takes you to a page managed by the National Society of Genetic Counselors: http://www.aboutgeneticcounselors.com/).

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Information about Genetic Health Risk reports - 23andMe

Why Genetic Testing is Important – Foundation Fighting Blindness

Most rare retinal diseases including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia are inherited and usually caused by one or more defects (mutations) in a single gene.

Genetic testing is available to attempt to identify the defective gene causing the IRD in an individual or family.

There are potential benefits to knowing the underlying genetic cause of a persons IRD. It may help confirm or refine a diagnosis. Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. It can also guide the testing of family members to identify those at risk of inheriting the condition. Knowing the genetic defect may help people qualify for clinical trials and inform them about which future therapies may be of benefit.

At the same time, the information revealed from a genetic test may not be immediately helpful to an individual or family. In some cases, the knowledge might create anxiety for some family members.

It is very important to remember, however, that a genetic test may not reveal the defective gene, which can be frustrating for a patient and their family.

The decision to undergo genetic testing should not be made lightly. Anyone interested in a genetic test is strongly advised to talk to a genetic counselor or retinal physician who is knowledgeable about the genetic testing process and the potential impacts of the results, before they decide to undertake the test.

The Foundations booklet Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers offers additional information on the genetic testing process. While the booklet is not a substitute for a genetic counselor, it can help you better understand and prepare for the process. The last section of the booklet lists additional resources, which may also be helpful.

You can download the booklet by clicking on the hyperlink below or call 800-683-5555 and ask for a copy to be mailed to you.

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Why Genetic Testing is Important - Foundation Fighting Blindness

Genetic testing for pancreatic cancer: What to know – Medical News Today

If a person develops pancreatic cancer, it may have genetic mutations that affect how it responds to treatment. Genetic testing can provide valuable information to help doctors and individuals make treatment decisions.

Healthcare providers use genetic testing to learn more about the DNA in a persons cells. Specific genetic mutations affect how cancer grows, including pancreatic cancer.

People who dont have cancer may still consider genetic testing, depending on their family history. If someone inherits specific genetic mutations, it raises their risk of developing pancreatic cancer.

Take a moment to learn how doctors may use genetic testing to check for these genetic mutations.

Healthcare providers and genetic counselors use two main types of genetic testing to manage pancreatic cancer: germline testing and somatic testing.

Germline testing, or predictive genetic testing, can identify whether a person has inherited genetic mutations linked to pancreatic cancer. These include certain mutations on the following genes:

Many of these genetic mutations also raise the risk of other types of cancer, such as breast, ovarian, prostate, and colorectal cancer.

A healthcare provider or genetic counselor may recommend germline testing to someone who receives a pancreatic cancer diagnosis. This testing will identify whether the cancer has a genetic link, which may affect the treatment options.

A healthcare provider or genetic counselor may also recommend germline testing to someone who has a strong family history of certain types of cancer or a blood relative who tested positive for certain genetic mutations. If the blood relative has genetic traits linked to pancreatic cancer, those traits may run in the family.

When someone tests positive for genetic mutations linked to pancreatic cancer, their healthcare provider or genetic counselor may encourage their family members to get tested. Doctors call this cascade testing.

If someone receives a diagnosis of pancreatic cancer, their healthcare provider may order somatic, or tumor, testing on a sample of the tumor.

This will identify whether the cancer has mutations in specific genes that affect how it behaves and responds to treatment.

The results of somatic testing help the healthcare provider determine the most suitable and effective treatments. Certain targeted therapies are more effective in treating tumors with specific genetic mutations.

The results of a germline or somatic test may influence a persons treatment plan for pancreatic cancer. That is because certain genetic mutations affect how pancreatic cancer responds to specific treatments.

For instance, research suggests that platinum-based chemotherapy might best suit people with pancreatic cancer who test positive for germline or somatic mutations in DNA repair genes. The BRCA1, BRCA2, and PALB2 genes are three examples of DNA repair genes.

According to a review in Cancer Management and Research, PARP inhibitors provide another promising treatment for pancreatic cancer in people with germline mutations in the BRCA1 or BRCA2 gene.

Scientists continue to study how people with somatic or germline mutations in these genes or other DNA repair genes respond to this treatment.

A persons genetic test results can also help their doctor predict how pancreatic cancer will respond to other medications, such as larotrectinib (Vitrakvi), entrectinib (Rozlytrek), and pembrolizumab (Keytruda).

To conduct genetic testing, a healthcare provider collects a sample of blood or tissue from a persons body. The type of sample depends on which kind of testing they order.

Before someone undergoes germline testing, their healthcare provider or genetic counselor will ask them about their personal and family medical history. This helps them determine whether germline testing is appropriate for them.

To conduct germline testing, a healthcare professional uses a needle and syringe to draw a sample of the persons blood. They send this sample to a laboratory for genetic sequencing.

To conduct somatic testing, a healthcare professional collects a sample of pancreatic cancer from a persons body. They may use endoscopic surgery to collect this sample.

To perform endoscopic surgery, the healthcare professional makes a small incision in the persons abdomen. Then they insert an endoscope, which is a flexible tube, through the incision and use that tube to remove a sample of the tumor.

They then send the sample to a laboratory for genetic testing.

A person can talk to their healthcare provider or genetic counselor to find out about the cost of genetic counseling services and genetic tests.

If someone has health insurance and meets certain criteria, their insurance plan may cover some or all of the costs of germline testing, somatic testing, or genetic counseling.

They may contact their insurance provider to learn if their plan provides coverage, and how much they can expect to pay in co-payment, co-insurance, or deductible charges.

Under federal law in the United States, health insurance providers cannot use genetic tests to decide which people they cover or how much they charge for health insurance.

Federal law does not prevent life insurance, disability insurance, or long-term care insurance providers from using genetic test results to guide their coverage decisions. As a result, some people prefer to pay for genetic counseling and testing out of pocket to keep the results private.

Sometimes the results of genetic tests are inconclusive. In other words, the test may not provide enough information to know if a person has specific genetic mutations or not.

False-negative results are rare, but they do occur. This means that although the test shows a negative result, genetic mutations are present.

To help a person understand the results of their genetic test, their healthcare provider may refer them to a genetic counselor.

A genetic counselor can help the person understand what positive, negative, or inconclusive test results mean for them and their family.

A person should talk to their healthcare provider or a genetic counselor to determine whether they should get genetic testing for pancreatic cancer or other types of cancer.

Their healthcare provider or genetic counselor may recommend germline testing if the person:

Their healthcare provider or genetic counselor might recommend somatic testing if they received a diagnosis of pancreatic cancer.

If someone has a family history of pancreatic cancer or certain other types of cancer, their healthcare provider or genetic counselor may recommend germline testing.

If a person receives a diagnosis of pancreatic cancer, their treatment team may recommend germline testing, somatic testing, or both.

These types of genetic testing can identify the presence of specific genetic mutations that may affect how cancer develops.

Anyone concerned about their cancer risk should talk to their healthcare provider about whether genetic testing is appropriate for them.

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Genetic testing for pancreatic cancer: What to know - Medical News Today

DNA paternity testing – Wikipedia

DNA matching techniques to identify someone's father

DNA paternity testing is the use of DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be especially important when the rights and duties of the father are in issue and a child's paternity is in doubt. Tests can also determine the likelihood of someone being a biological grandparent. Though genetic testing is the most reliable standard, older methods also exist, including ABO blood group typing, analysis of various other proteins and enzymes, or using human leukocyte antigen antigens. The current techniques for paternity testing are using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Paternity testing can now also be performed while the woman is still pregnant from a blood draw.[1][2]

DNA testing is currently the most advanced and accurate technology to determine parentage. In a DNA paternity test, the result (called the 'probability of parentage)[3][failed verification] is 0% when the alleged parent is not biologically related to the child, and the probability of parentage is typically 99.99% when the alleged parent is biologically related to the child. However, while almost all individuals have a single and distinct set of genes, rare individuals, known as "chimeras", have at least two different sets of genes, which can result in a false negative result if their reproductive tissue has a different genetic make-up from the tissue sampled for the test.[4]

The DNA test is performed by collecting buccal (cheek) cells found on the inside of a person's cheek using a buccal or cheek swab. These swabs have wooden or plastic stick handles with a cotton on synthetic tip. The collector rubs the inside of a person's cheek to collect as many buccal cells as possible, which are then sent to a laboratory for testing. Samples from the alleged father or mother and the child would be needed.

It is possible to determine who the biological father of the fetus is while the woman is still pregnant through procedures called chorionic villus sampling or amniocentesis. Chorionic villus sampling retrieves placental tissue in either a transcervical or transabdominal manner. Amniocentesis retrieves amniotic fluid by inserting a needle through the pregnant mother's abdominal wall. These procedures are highly accurate because they are taking a sample directly from the fetus; however, there is a small risk for the woman to miscarry and lose the pregnancy as a result. Both CVS and Amnio require the pregnant woman to visit a genetic specialist known as a maternal fetal medicine specialist who will perform the procedure.

Advances in genetic testing have led to the ability to identify the biological father while the woman is still pregnant. There is a small amount of fetal DNA (cffDNA) present in the mother's blood during pregnancy. This allows for accurate fetal DNA paternity testing during pregnancy from a blood draw with no risk of miscarriage. Studies have shown that cffDNA can first be observed as early as 7 weeks gestation, and the amount of cffDNA increases as the pregnancy progresses.[5][6]

The DNA of an individual is the same in every somatic (nonreproductive) cell. Sexual reproduction brings the DNA of both parents together to create a unique combination of genetic material in a new cell, so the genetic material of an individual is derived from the genetic material of each parent in equal amounts; this genetic material is known as the nuclear genome of the individual, because it is found in the nucleus.

Comparing the DNA sequence of one person to that of another can prove if one of them was derived from the other, but DNA paternity tests are not currently 100% accurate. Specific sequences are examined to see if they were copied verbatim from one individual's genome; if so, then the genetic material of one individual could have been derived from that of the other (i.e. one is the parent of the other). Besides nuclear DNA, mitochondria also have their own genetic material called mitochondrial DNA. Mitochondrial DNA comes only from the mother, without any shuffling.

Proving a relationship based on comparison of the mitochondrial genome is much easier than that based on the nuclear genome. However, testing the mitochondrial genome can prove only if two individuals are related by common descent through maternal lines only from a common ancestor and is, thus, of limited value (i.e., it could not be used to test for paternity).

In testing the paternity of a male child, comparison of the Y chromosome can be used, since it is passed directly from father to son.

In the US, the AABB has regulations for DNA paternity and family relationship testing, but AABB accreditation is not required. DNA test results are legally admissible if the collection and the processing follows a chain of custody. Similarly in Canada, the SCC has regulations on DNA paternity and relationship testing, but this accreditation, while recommended, is not required.

The Paternity Testing Commission of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO/IEC 17025 standards.[7] Bio-statistical evaluations of paternity should be based on a likelihood ratio principle - yielding the Paternity Index, PI. The recommendations provide guidance on concepts of genetic hypotheses and calculation concerns needed to produce valid PIs, as well as on specific issues related to population genetics.

The first form of any kind of parental testing was blood typing, or matching blood types between the child and alleged parent, which became available in the 1920s, after scientists recognized that blood types, which had been discovered in the early 1900s, were genetically inherited. Under this form of testing, the blood types of the child and parents are compared, and it can be determined whether there is any possibility of a parental link. For example, two O blood type parents can produce a child only with an O blood type, and two parents with a B blood type can produce a child with either a B or an O blood type. This often led to inconclusive results, as 30% of the entire population can be excluded from being the possible parent under this form of testing.[8] In the 1930s, serological testing, which tests certain proteins in the blood, became available, with a 40% exclusion rate.[9]

In the 1960s, highly accurate genetic paternity testing became a possibility when HLA typing was developed, which compares the genetic fingerprints on white blood cells between the child and alleged parent.[10] HLA tests could be done with 80% accuracy but could not distinguish between close relatives.[11] Genetic parental testing technology advanced further with the isolation of the first restriction enzyme in 1970. Highly accurate DNA parental testing became available in the 1980s with the development of RFLP. In the 1990s, PCR became the standard method for DNA parental testing: a simpler, faster, and more accurate method of testing than RFLP, it has an exclusion rate of 99.99% or higher.[11]

The DNA parentage test that follows strict chain of custody can generate legally admissible results that are used for child support, inheritance, social welfare benefits, immigration, or adoption purposes. To satisfy the chain-of-custody legal requirements, all tested parties have to be properly identified and their specimens collected by a third-party professional who is not related to any of the tested parties and has no interest in the outcome of the test.

The quantum of evidence needed is clear and convincing evidence: that is, more evidence than an ordinary case in civil litigation, but less than beyond a reasonable doubt required to convict a defendant in a criminal case.

In recent years, immigration authorities in various countries, such as the United States, United Kingdom, Canada, Australia, France, and others, may accept DNA parentage test results from immigration petitioners and beneficiaries in a family-based immigration case when primary documents that prove biological relationship are missing or inadequate.

In the U.S., immigration applicants bear the responsibility of arranging and paying for DNA testing. The U.S. immigration authorities require that the DNA test, if pursued, be performed by one of the laboratories accredited by the AABB (formerly American Association of Blood Banks). Similarly, in Canada, the laboratory needs to be accredited by the Standards Council of Canada.

Although paternity tests are more common than maternity tests, there may be circumstances in which the biological mother of the child is unclear: examples include cases of an adopted child attempting to reunify with his or her biological mother, potential hospital mix-ups, and in vitro fertilization where the laboratory may have implanted an unrelated embryo inside the mother.

Other factors, such as new laws regarding reproductive technologies using donated eggs and sperm and surrogate mothers, can also mean that the female giving birth is not necessarily the legal mother of the child. For example, in Canada, the federal Human Assisted Reproduction Act provides for the use of hired surrogate mothers. The legal mother of the child may be the egg donor. Similar laws are in place in the United Kingdom and Australia.

In Brazil in 2019, two male identical twins were ordered to both pay maintenance for a child fathered by one of them, because the father could not be identified with DNA.[12]

Peace-of-mind parentage tests are widely available on the internet. For a parentage test (paternity or maternity) to be admissible for legal purposes, such as for changing a birth certificate, Family Law Court proceedings, visa/citizenship applications or child support claims, the process must comply with the Family Law Regulations 1984 (Cth).[13] Further, the laboratory processing the samples must be accredited by the National Association of Testing Authorities (NATA).[14]

Personal paternity-testing kits are available. The Standards Council of Canada regulates paternity testing in Canada whereby laboratories are ISO 17025-approved. In Canada, only a handful of labs have this approval, and it is recommended that testing is performed in these labs. Courts also have the power to order paternity tests during divorce cases.[15]

In China, paternity testing is legally available to fathers who suspect their child is not theirs. Chinese law also requires a paternity test for any child born outside the one-child policy for the child to be eligible for a hukou, or family registration record. Family tie formed by adoption can also only be confirmed by a paternity test. A large number of Chinese citizens seek paternity testing each year, and this has given rise to many unlicensed illegal testing centers being set up.[16]

DNA paternity testing is solely performed on decision of a judge in case of a judiciary procedure in order either to establish or contest paternity or to obtain or deny child support.[17] Private DNA paternity testing is illegal, including through laboratories in other countries, and is punishable by up to a year in prison and a 15,000 fine.[18] The French Council of State has described the law's purpose as upholding the "French regime of filiation" and preserving "the peace of families."[19]

Under the Gene Diagnostics Act of 2009, secret paternity testing is illegal. Any paternity testing must be conducted by a licensed physician or by an expert with a university degree in science and special education in parentage testing, and the laboratory carrying out genetic testing must be accredited according to ISO/IEC 17025. Full informed consent of both parents is required, and prenatal paternity testing is prohibited, with the exception of sexual abuse and rape cases. Any genetic testing done without the other parent's consent is punishable with a 5,000 fine.[20] Due to an amendment of the civil law section 1598a in 2005, any man who contests paternity no longer automatically severs legal rights and obligations to the child.[21][22]

A paternity test with any legal standing must be ordered by a family court. Though parents have access to "peace of mind" parental tests through overseas laboratories, family courts are under no obligation to accept them as evidence. It is also illegal to take genetic material for a parental test from a minor over 16 years of age without the minor's consent. Family courts have the power to order paternity tests against the will of the father in divorce and child support cases, as well as in other cases such as determining heirs and settling the question involving the population registry. A man seeking to prove that he is not the father of the child registered as his is entitled to a paternity test, even if the mother and natural guardian object. Paternity tests are not ordered when it is believed it could lead to the murder of the mother, and until 2007, were not ordered when there was a chance that the child could have been conceived outside of marriage, making them a mamzer under Jewish law.[23][24][25]

DNA paternity testing for personal knowledge is legal, and home test kits are available by mail from representatives of AABB- and ISO 17025-certified laboratories.[26] DNA Paternity Testing for official purposes, such as sustento (child support) and inheritance disputes, must follow the Rule on DNA Evidence A.M. No. 06-11-5-SC, which was promulgated by the Philippine Supreme Court on October 15, 2007.[27] Tests are sometimes ordered by courts when proof of paternity is required.

In Spain, peace-of-mind paternity tests are a "big business," partly due to the French ban on paternity testing, with many genetic testing companies being based in Spain.[28][29]

In the United Kingdom, there were no restrictions on paternity tests until the Human Tissue Act 2004 came into force in September 2006. Section 45 states that it is an offence to possess without appropriate consent any human bodily material with the intent of analysing its DNA. Legally declared fathers have access to paternity-testing services under the new regulations, provided the putative parental DNA being tested is their own. Tests are sometimes ordered by courts when proof of paternity is required. In the UK, the Ministry of Justice accredits bodies that can conduct this testing. The Department of Health produced a voluntary code of practice on genetic paternity testing in 2001. This document is currently under review, and responsibility for it has been transferred to the Human Tissue Authority.In the 2018 case of Anderson V Spencer the Court of Appeal permitted for the very first time DNA samples taken from a Deceased person to be used for paternity testing.

In the United States, paternity testing is fully legal, and fathers may test their children without the consent or knowledge of the mother. Paternity testing take-home kits are readily available for purchase, though their results are not admissible in court and are for personal knowledge only.

Only a court-ordered paternity test may be used as evidence in court proceedings. If parental testing is being submitted for legal purposes, including immigration, testing must be ordered through a lab that has AABB accreditation for relationship DNA testing.[30]

The legal implications of a parentage result test vary by state and according to whether the putative parents are unmarried or married. If a parentage test does not meet forensic standards for the state in question, a court-ordered test may be required for the results of the test to be admissible for legal purposes. For unmarried parents, if a parent is currently receiving child support or custody, but DNA testing later proves that the man is not the father, support automatically stops. However, in many states, this testing must be performed during a narrow window of time, if a voluntary acknowledgement of parentage form has already been signed by the putative father; otherwise, the results of the test may be disregarded by law, and in many cases, a man may be required to pay child support, though the child is biologically unrelated. In a few states, if the mother is receiving the support, then that alleged father has the right to file a lawsuit to get back any money that he lost from paying support. As of 2011, in most states, unwed parents confronted with a voluntary acknowledgement of parentage form are informed of the possibility and right to request a DNA paternity test. If testing is refused by the mother, the father may not be required to sign the birth certificate or the voluntary acknowledgement of parentage form for the child. For wedded putative parents, the husband of the mother is presumed to be the father of the child. But, in most states, this presumption can be overturned by the application of a forensic paternity test; in many states, the time for overturning this presumption may be limited to the first few years of the child's life.

Reverse paternity determination is the ability to establish the biological father when the father of that person is not available. The test uses the STR alleles in the mother and her child, other children and brothers of the alleged father, and deduction of genetic constitution of the father by the basis of genetic laws, all to create a rough amalgamation. This can compare the father's DNA when a direct sample of the father's DNA is unavailable. An episode of Solved shows this test being used to know if a blood sample matches with the victim of a kidnapping.

Genetic:

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DNA paternity testing - Wikipedia

Outcomes4Me Partners with Invitae to Offer Genetic Testing to Breast Cancer Patients – Business Wire

BOSTON--(BUSINESS WIRE)--Outcomes4Me Inc., developer of a leading free mobile app and platform to navigate cancer treatment and care, today announced that it has partnered with Invitae Corporation (NYSE: NVTA), a leading medical genetics company, to expand education and access to genetic testing to breast cancer patients and survivors. The collaboration leverages the strengths of Invitae, which supplies clinical grade genetic testing, and Outcomes4Mes 360-degree, validated and evidence-based cancer support and treatment options via its free and easy-to-use app. Initially and currently available in the United States, patients can now receive genetic counseling through Invitaes partnership with Genome Medical, get testing, and upload their results within the Outcomes4Me app.

There is a misconception that genetic testing is only useful as a preventative tool prior to a cancer diagnosis. According to Outcomes4Me patient data, almost half of users (46 percent) who qualified for testing (based on NCCN Guidelines) did not receive testing or did not know if they had received testing. However, genetic testing can provide insights that can help inform and refine precision therapy use and clinical treatment trial enrollment. In addition, genetic testing results can be used to help prevent recurrence and reduce incidence of other inherited cancers.

A cancer diagnosis is often overwhelming for patients and their families. Outcomes4Me demystifies cancer by providing the most up-to-date and validated research, support, and treatment options, all grounded in science and data and curated according to the patients specific diagnosis. Outcomes4Me partners with the researchers, doctors, and academics that set the rigorous standards of cancer care for all treatment providers, including the National Comprehensive Care Network (NCCN), Vanderbilt-Ingram Cancer Center (VICC) and Massachusetts General Hospital (MGH). The collaboration with Invitae expands access to genetic testing, a vitally important tool in the patients cancer care arsenal.

Outcomes4Me is an indispensable platform for patients with breast cancer, giving them the personalized knowledge and access to timely new trials and targeted therapies that could lead to better health outcomes, said Ed Esplin, M.D., Ph.D., FACMG, FACP, Clinical Geneticist at Invitae. By providing access to our comprehensive genetic testing and counseling services, Outcomes4Me is adding a valuable resource that will empower patients to advance their knowledge, understanding, and therefore, self-advocacy during treatment and survivorship.

Unlike popular direct-to-consumer genetic testing services, which test for a few specific genetic variants for certain genes, Invitae provides state-of-the-art clinical grade next-generation sequencing-based (NGS) genetic testing that comprehensively analyses more than 80 genes, including all known mutations of the important BRCA1/BRCA2 genes. This comprehensive approach, combined with associated genetic counseling, not only provides insights for cancer patients, but also for family members who may be at risk.

Our collaboration with Invitae reinforces Outcomes4Mes mission to give patients back control, said Maya R. Said, Sc. D., Founder and CEO of Outcomes4Me. Because of this work with Invitae, our valued community now has rare direct access to a much-needed testing service. Outcomes4Me will proudly continue to democratize the best in cancer treatment, research, and support by removing barriers and bias in information flow.

The Outcomes4Me app is available free to users on both the App Store and Google Play.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at http://www.invitae.com.

About Outcomes4Me

Outcomes4Me is on a mission to improve health outcomes by empowering patients with understandable, relevant and evidence-based information. Outcomes4Me has developed a platform for shared decision-making between patients and providers. The platform harnesses regulatory-grade, real-world data and patient experiences generating deeper insights and better outcomes to improve care and accelerate research. The Outcomes4Me mobile app enables cancer patients to make decisions and take control of their care based on information that is personalized to their specific condition, including finding treatment options, matching to clinical trials, and tracking and managing symptoms. Based in Boston, Massachusetts, Outcomes4Me, a woman-led company, comprises seasoned healthcare, oncology, pharmaceutical, consumer and technology veterans. For more information, visit http://www.outcomes4me.com.

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Outcomes4Me Partners with Invitae to Offer Genetic Testing to Breast Cancer Patients - Business Wire

CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing – GenomeWeb

NEW YORK The Centers for Disease Control and Prevention said on Monday that its Genetic Testing Reference Materials Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 curated clinically important variants in 84 genes for use in next-generation sequencing genetic testing.

By defining variants that are either major contributors to disease or difficult to detect, the list will serve as a resource for the design of comprehensive analytical validation studies, as well as the creation of computer-modulated or simulated reference materials for clinical genomic test development, the partners said.

Genetic testing has grown from the analysis of small sets of known pathogenetic variants in one or a few genes to the analysis of hundreds or thousands of genes simultaneously using NGS, they added. But it's difficult, or even impossible, to obtain DNA reference materials containing the full scope of variants and variant types needed to perform a comprehensive validation study. It can also be challenging for laboratories to maintain the expert knowledge to identify variants that are appropriately representative of the spectrum of disease for inclusion in validation studies.

The new variant list, they said, will help address these complexities.

The CDC and ClinGen first proposed the curated list in a paper published in August in the Journal of Molecular Diagnostics. The variant types include 346 SNVs, 104 deletions, 37 copy number variants, 25 duplications, 18 deletion-insertions, five inversions, four insertions, two complex rearrangements, three difficult-to-sequence regions, and two fusions. They were nominated for a variety of reasons, including being major contributors to disease, analytically difficult to detect, or inadvertently filtered out due to high allele frequency.

The authors also noted that the list of 84 genes include 29 of the 73 genes recommended by the American College of Medical Genetics and Genomics for reporting of incidental or secondary findings.

The ClinGen Allele Registry was used to standardize nomenclature for all nominated variants, and ClinVar Variation IDs and associated disorders were added where available. The Food and Drug Administration has also recognized ClinGen's curation process and its resulting classifications as a regulatory-grade variant database, and the curated variants are available via the National Center for Biotechnology Information's ClinVar database and ClinGen's Evidence Repository.

"This important novel approach will remove a critical bottleneck for test developers and may help harmonize test development and validation across laboratories," co-lead investigator Birgit Funke, VP of genomic health at Sema4, said in a statement.

Co-lead investigator and GeT-RM Director Lisa Kalman also noted that the partners have started a pilot project to demonstrate how the curated variants "could be used to create reference materials by in silico mutagenesis of NGS sequencing files. The pilot will examine whether the added variants can be detected by the clinical laboratories that generated the NGS files and demonstrate a general process that labs can use to develop electronic reference materials to fit their own needs."

GeT-RM and ClinGen will continue to add to the current variant list as needed, and are inviting input from the genetics community about the list and the processes used to generate it.

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CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing - GenomeWeb

Taysha Gene Therapies Announces Sponsored Genetic Testing for Giant Axonal Neuropathy (GAN) in Partnership with GeneDx as well as a Collaboration with…

DALLAS--(BUSINESS WIRE)--Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a patient-centric, pivotal-stage gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system (CNS) in both rare and large patient populations, today announced sponsored genetic testing for giant axonal neuropathy (GAN) in partnership with GeneDx, Inc., a leader in genomic analysis and a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK). Under the partnership, Taysha will sponsor the inclusion of a genetic marker to test for GAN in the GeneDx hereditary neuropathy panel free of charge to individuals at risk for or suspected of having GAN.

GAN is a progressive neurodegenerative disease that affects both the central and peripheral nervous systems leading to motor weakness, sensory impairment, and cognitive dysfunction. Currently, there are no approved treatments for GAN, which results in death for patients often in their late teens or early twenties. Although no symptoms are present in the first few months of life, many children with early onset GAN develop symptoms and features before the age of three. A more recently identified later onset phenotype of GAN is often mischaracterized as Charcot-Marie-Tooth. The estimated prevalence for GAN is 2,400 patients, but the GAN population is anticipated to be larger than previously appreciated.

In the natural history study, Motor Function Measure 32 (MFM32), a validated and well-known scale to measure strength and motor function, is the primary endpoint. A four-point change on the MFM32 score is considered clinically meaningful, which has been validated across numerous similar neuropathies. Natural history decline in patients with GAN is eight points per year. Treatment with TSHA-120, Tayshas intrathecally dosed AAV9 gene therapy currently being evaluated in a Phase 1/2 clinical trial led by Carsten Bnnemann, M.D., Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section and Senior Investigator, Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke (NINDS), U.S. National Institutes of Health (NIH). Data demonstrate a statistically significant halt in decline as measured by the MFM32 at therapeutic doses. All GAN natural history data was generated and supported by the NINDS, NIH under umbrella protocol NCT01568658.

Rare diseases like GAN are often mischaracterized, particularly when there are overlapping symptoms with other diseases with higher awareness, said Suyash Prasad, MBBS, M.Sc., MRCP, MRCPCH, FFPM, Chief Medical Officer and Head of Research and Development of Taysha. Early diagnosis can dramatically improve the lives of patients and we are very excited to work with GeneDx, a global leader in genetic testing, to have GAN included in its routine hereditary neuropathy screening panel. Ultimately, this can help address current treatment barriers by raising disease awareness, making diagnostic tools more accessible and facilitating earlier intervention for patients suffering from GAN. We are also excited to collaborate with the Hereditary Neuropathy Foundation and the Charcot-Marie-Tooth Association Centers of Excellence, healthcare professionals, and patient advocacy groups to increase access to genetic testing. In the meantime, we look forward to reporting Phase 1/2 clinical data for TSHA-120 from the high dose cohort in the second half of this year. We have submitted a request for scientific advice from a regulatory agency and look forward to next steps.

Paul Kruszka, M.D., F.A.C.M.G., chief medical officer of GeneDx added, Earlier access to genetic testing can take years off the diagnostic journey for patients facing rare diseases like GAN. By ensuring patients and clinicians no longer have to rely on solely clinical criteria and symptom presentation to get to an accurate diagnosis, we can help clinicians turn their attention to effective treatment plans earlier in the course of the disease. We look forward to partnering with Taysha on this important effort to improve diagnosis of neurodegenerative diseases like GAN.

Taysha will sponsor the new initiative which will make genetic testing available free of charge to individuals at risk for or suspected of having GAN. The initiative is designed to increase access to genetic testing for patients. GeneDx will provide analysis of genes on the Hereditary Neuropathy Panel by next-generation sequencing with deletion/duplication detection.

As the later onset phenotype of GAN is sometimes miscategorized as Charcot-Marie-Tooth or Charcot-Marie-Tooth Type 2, Taysha plans to collaborate with the Hereditary Neuropathy Foundation (HNF) and the Charcot-Marie Tooth Association (CMTA) by engaging their Centers of Excellence to administer genetic tests to appropriate patients and by creating awareness among patients and families about this new initiative.

Allison Moore, Founder and Chief Executive Officer (CEO) of the HNF said, We believe all patients at risk for or suspected to have GAN should have access to receive genetic testing in order to confirm a potential GAN diagnosis and to be made aware of opportunities to participate in clinical trials for investigational treatments. This initiative aligns with HNFs mission to accelerate and help facilitate an accurate diagnosis for patients and families worldwide.

Through this initiative, patients will have access to no-charge genetic testing, eliminating one of the biggest barriers, said Amy Gray, CEO of the CMTA. The CMTAs support of this initiative is part of our broader commitment to accelerate research and empower patients and families living with GAN and other forms of CMT, including the most vulnerable, by giving them access to resources that may help improve outcomes and quality of life.

All testing will be ordered through a clinician. Sponsored testing programs have previously been shown to increase access to genetic testing, confirm diagnosis and enable participation in clinical trials for patients.

About Taysha Gene Therapies

Taysha Gene Therapies (Nasdaq: TSHA) is on a mission to eradicate monogenic CNS disease. With a singular focus on developing curative medicines, we aim to rapidly translate our treatments from bench to bedside. We have combined our teams proven experience in gene therapy drug development and commercialization with the world-class UT Southwestern Gene Therapy Program to build an extensive, AAV gene therapy pipeline focused on both rare and large-market indications. Together, we leverage our fully integrated platforman engine for potential new cureswith a goal of dramatically improving patients lives. More information is available at http://www.tayshagtx.com.

About GeneDx, Inc.

GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit http://www.genedx.com.

About OPKO Health

OPKO Health, Inc. (NASDAQ:OPK) is a multinational biopharmaceutical and diagnostics company that seeks to establish industry-leading positions in large, rapidly growing markets by leveraging its discovery, development, and commercialization expertise and novel and proprietary technologies. For more information, visit http://www.opko.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as anticipates, believes, expects, intends, projects, and future or similar expressions are intended to identify forward-looking statements. Forward-looking statements include statements concerning the potential of our product candidates, including TSHA-120, to positively impact quality of life and alter the course of disease in the patients we seek to treat, our research, development and regulatory plans for our product candidates, TSHA-120s eligibility for accelerated approval in the United States and Europe, the potential for these product candidates to receive regulatory approval from the FDA or equivalent foreign regulatory agencies, and whether, if approved, these product candidates will be successfully distributed and marketed, and the potential market opportunity for these product candidates. Forward-looking statements also include statements as to the accuracy of GeneDx testing and the impact of testing on treatment paths and outcomes. Forward-looking statements are based on current expectations and are subject to various risks and uncertainties that could cause actual results to differ materially and adversely from those expressed or implied by such forward-looking statements. Accordingly, these forward-looking statements do not constitute guarantees of future performance, and you are cautioned not to place undue reliance on these forward-looking statements. Risks regarding our business are described in detail in our Securities and Exchange Commission (SEC) filings, including in the respective Annual Report on Form 10-K for the full-year ended December 31, 2020, and our Quarterly Reports on Form 10-Q for us and OPKO, all of which are available on the SECs website at http://www.sec.gov. Additional information will be made available in other filings that we make from time to time with the SEC. Such risks may be amplified by the impacts of the COVID-19 pandemic. These forward-looking statements speak only as of the date hereof, and we and OPKO disclaim any obligation to update these statements except as may be required by law.

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Taysha Gene Therapies Announces Sponsored Genetic Testing for Giant Axonal Neuropathy (GAN) in Partnership with GeneDx as well as a Collaboration with...

Krystal Biotech and GeneDx Announce Collaboration to Provide No-charge Genetic Testing for Patients with Suspected Dystrophic Epidermolysis Bullosa…

The Krystal Decode DEB program is designed to shorten time to accurate diagnosis and facilitate the delivery of optimal care

PITTSBURGH and GAITHERSBURG, Md., Oct. 12, 2021 (GLOBE NEWSWIRE) -- Krystal Biotech, Inc., (Krystal) (NASDAQ: KRYS), the leader in redosable gene therapies for rare diseases, and GeneDx, Inc., a leader in genomic analysis and a wholly-owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK), today announced a collaboration offering no-charge genetic testing for all types of Epidermolysis Bullosa (EB). The goal of the program, called Krystal Decode DEB, is to help patients with the dystrophic form of this genetic condition, also known as DEB, get a definitive diagnosis sooner, with highly accurate results obtained with a blood or cheek swab sample.

"In the US, EB is too often diagnosed by clinical features alone without molecular confirmation. Since clinical features in different EB subtypes and other blistering disorders can show many similarities, a diagnosis based solely on clinical features can be inaccurate or delayed, which ultimately hurts the patients by preventing them from receiving proper care. The Krystal Decode DEB program will help accelerate and/or confirm an accurate diagnosis of DEB and empower health care providers, patients and families to make informed health decisions to facilitate optimal care delivery, said Dr. Peter Marinkovich, M.D., Blistering Disease Clinic Director and Associate Professor of Dermatology at Stanford University, and Primary Investigator for Krystals ongoing Phase 3 trial.

EB is a rare genetic connective tissue disorder that causes extremely fragile skin that blisters and tears from minor friction or trauma. There are 4 types of EB, each caused by mutations in different genes. Accurately diagnosing dystrophic EB (caused by mutations in the COL7A1 gene) is critical due to the higher risk of squamous cell cancer, internal complications and mortality.

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Epidermolysis Bullosa is a group of disorders with varied presentations, prognoses and long-term sequelae resulting from distinct gene mutations. However, many suspected EB patients do not receive diagnostic testing due to lack of insurance coverage, cost of assessment and unfamiliarity with the impact of genetic information on health care delivery, said Dr. Jeanett Segal M.D., United States Medical Director of Krystal Biotech, Inc. Fortunately, genetic tests are available and we are thrilled to work with GeneDx to offer this at no-charge to patients with EB symptoms.

The Krystal Decode DEB program utilizes a comprehensive panel of genes to identify DEB or other genetic conditions with similar phenotype to DEB, including other EB types and some other non EB skin blistering conditions, to aid in diagnosis.

Diagnosis of rare diseases like DEB can take years. Access to genetic testing as early as possible is essential to ensure people suspected of having DEB receive an accurate diagnosis and optimal treatment as soon as possible, said Dr. Paul Kruszka, M.D., F.A.C.M.G., Chief Medical Officer of GeneDx. Were pleased to be working with Krystal Biotech to make it easier for patients suspected of having DEB to receive genetic testing.

The Krystal Decode DEB program is open to all US residents, including residents of Puerto Rico, who have clinical symptoms consistent with EB and have not previously received genetic testing. More information on the Decode DEB program can be obtained by emailing krystal@genedx.com or calling 1-888-729-1206. Krystal reserves the right to amend, suspend or terminate this program without notice.

About Dystrophic EBDEB is a rare and severe monogenic disease that affects the skin and mucosal tissues. It is caused by one or more mutations in a gene called COL7A1, which is responsible for the formation of the protein type VII collagen protein (COL7) that forms anchoring fibrils that bind the dermis (inner layer of the skin) to the epidermis (outer layer of the skin). The lack of functional anchoring fibrils leads to extremely fragile skin that blisters and tears from minor friction or trauma. DEB patients suffer from open wounds, which leads to skin infections, fibrosis which can cause fusion of fingers and toes, and ultimately a significantly increased risk of developing squamous cell carcinoma of the skin, which is often fatal.

About Krystal BiotechKrystal Biotech, Inc. (NASDAQ:KRYS) is a pivotal-stage gene therapy company leveraging its novel, redosable gene therapy platform and in-house manufacturing capabilities to develop therapies to treat serious rare diseases. For more information, please visit http://www.krystalbio.com.

About GeneDxGeneDx, Inc. is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly-owned subsidiary of OPKO Health, Inc. To learn more, please visit http://www.genedx.com.

About OPKO HealthOPKO is a multinational biopharmaceutical and diagnostics company that seeks to establish industry-leading positions in large, rapidly growing markets by leveraging its discovery, development, and commercialization expertise and novel and proprietary technologies. For more information, visit http://www.opko.com.

Forward-Looking StatementsThis press release contains forward-looking statements, including with respect to the Krystal Decode DEB program, such as its ability to help accelerate and/or confirm an accurate diagnosis of DEB and empower health care providers, patients and families to make informed health decisions to facilitate optimal care delivery. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors as are set forth under the caption Risk Factors in Krystals annual and quarterly reports on file with the U.S. Securities and Exchange Commission. Krystal undertakes no duty or obligation to update any forward-looking statements contained herein as a result of new information, future events or changes in its expectations or circumstances.

CONTACTS:

Investors:

Media:

Whitney Ijem

Mary Coyle

Krystal Biotech

TellMed Strategies

wijem@krystalbio.com

mary.coyle@tmstrat.com

Source: Krystal Biotech, Inc.

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Krystal Biotech and GeneDx Announce Collaboration to Provide No-charge Genetic Testing for Patients with Suspected Dystrophic Epidermolysis Bullosa...

Privacy Law Essentials: California’s Genetic Information Privacy Act | Hinshaw Privacy & Cyber Bytes – Insights on Compliance, Best Practices, and…

California Governor Newsom signed the Genetic Information Privacy Act (GIPA) into law on October 6, 2021. GIPA requires direct-to-consumer genetic testing companies to comply with certain privacy and data security requirements such as requiring consumers' affirmative consent regarding the collection, use, maintenance, and disclosure of genetic data, and enabling consumers to access and destroy their genetic data.

GIPA applies to companies that:

Licensed medical providers who are actively diagnosing or treating a patient's medical condition.

GIPA covers "genetic data," which is defined as any data, regardless of the format, that results from analysis of a biological sample from a consumer or from another element enabling equivalent information to be obtained, and concerns genetic material. Genetic material includes, but is not limited to, DNA, RNA, genes, chromosomes, alleles, genomes, alterations or modifications to DNA or RNA, SNPs, uninterpreted data that results from analysis of the biological sample, and any information extrapolated, derived, or inferred from materials in this list.

Genetic data does not include de-identified data, or a biological sample to the extent that data or a biological sample is collected, used, maintained, and disclosed exclusively for scientific research under very particular circumstances described in the law.

GIPA creates safeguards for privacy, security, and confidentiality for consumers of direct-to-consumer genetic testing. It ensures that consumers receive the required notice and have the ability to revoke consent for the use, collection, or disclosure of the consumer's genetic data.

Under GIPA, companies must do the following, among other requirements identified within the statute:

Consumers who have suffered injury in fact and lost money or property as a result of the violation of GIPA will have a private right of action. The California Attorney General and local government counsel will also prosecute GIPA through civil penalties.

GIPA will go into effect on January 1, 2022.

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Privacy Law Essentials: California's Genetic Information Privacy Act | Hinshaw Privacy & Cyber Bytes - Insights on Compliance, Best Practices, and...

Advancements in reproductive medicine available at Shady Grove Fertility (SGF) can reduce the inheritance of genetic diseases like breast cancer -…

Preimplantation genetic testing (PGT) of embryos during in vitro fertilization (IVF) enlightens patients of possible gene mutations prior to implantation. SGF's in-house team of researchers continues to explore PGT as a counseling tool to optimize care for generations to come.

WASHINGTON, Oct. 14, 2021 /PRNewswire-PRWeb/ -- National Breast Cancer Awareness Month reminds us that an estimated 700,000 people in the U.S. will be diagnosed with breast cancer this year alone, of which, up to 10 percent of cases are linked to an inherited gene mutation. Individuals and couples with known genetic diseases can turn to Shady Grove Fertility (SGF) to undergo in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects (PGT-M) to reduce the risk of passing genetic mutations to future offspring.

SGF can screen for over 280 recessive gene mutations, including diseases such as cystic fibrosis, Tay-Sachs disease, and spinal muscular atrophy. Additionally, patients at risk for dominant gene mutations, such as breast cancer or inherited forms of colon cancer, can have individualized testing for these diseases.

In 2019, SGF formed a partnership with breast cancer advocate and Previvor Founder, Allyn Rose, to educate patients of these interventions and the availability of fertility preservation prior to any cancer treatment.

"In the last letter that my mother wrote to me before her passing from metastatic breast cancer at age 50, she warned me of my family's predisposition to cancer and rare diseases, encouraging me to undergo in vitro fertilization (IVF) treatment to eliminate this disease," says Rose, a former Miss USA and Miss America contestant, model, and the recipient of the 21st Annual Congress on Women's Health's Advocacy Award and a Breast Cancer Summit Lifetime Achievement Award.

While Rose is not a carrier for the breast cancer gene, she is a carrier of a rare X-linked genetic mutation called Wiskott-Aldrich syndrome. Because of this genetic mutation, there would be a 50 percent chance that her future children would also become carriers of the disease. In October 2019, Rose started her IVF journey with Kate Devine, M.D., at SGF's K Street location in Washington, D.C., opting to undergo PGT-M to reduce the risk of having a child with an inherited condition. After 10 months of IVF treatment with SGF, Rose announced that she was pregnant in July 2020.

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Nearly two years after beginning their journey with SGF, Rose and her husband Christopher announced the birth of their daughter, Yve, on April 9, 2021.

"It was an incredibly fulfilling experience welcoming my daughter into the world because it felt as if my journey had come full circle," shares Rose. "For the last 10 years, I've worked as an advocate in the breast cancer community. I've spent years speaking on the importance of long-term perspective and highlighting my choice to undergo a preventive mastectomy in order to prolong my life and to conceive via IVF removing my rare genetic disease from my family tree. Now, I can hold my daughter in my arms and see that it was all worth it. Everything that I've worked towards has finally come to fruition."

"Allyn's story is a beacon of hope for women with increased cancer risk and other genetic risk factors," says Dr. Devine. "IVF with PGT-M is a safe and reliable means of fertility treatment for people who want to reduce risk of known genetic mutations in their children. I'm so happy that Allyn underwent treatment to reduce her own familial breast cancer risk and that she and that her baby girl is free of Wiskott-Aldrich gene mutations."

While Rose was proactive with preventive family-building measures, more awareness and education is needed on the topic. SGF is slated to present research findings on genetic testing in the infertility population for those at increased risk at the 2021 ASRM Scientific Congress and Expo, taking place in Baltimore from October 1721.

The study, which was honored with the ASRM 2021 Corporate Member Council In-Training Award, concludes that an overwhelming majority of eligible fertility patients are declining cancer genetic testing despite receiving focused genetic counseling regarding the recommendation to pursue testing as well as the opportunity to potentially minimize the cancer risk of future offspring.

"Prior to initiating fertility treatment, all patients who participated in the study received focused genetic counseling informing them that if one parent has a hereditary cancer-predisposing mutation, there is a 50% risk that any child will have it too," explains Dr. Devine, who also serves as SGF's Director of Research. "We will continue to research the underlying 'why' behind these decisions to evolve future care models that offer the safest and healthiest outcomes for our patients."

"Making the decision to pursue IVF with PGT is a very personal one," adds Rose. "But I am a strong proponent of pursuing all options available in order to give children the best possible opportunity to thrive in life. We are so fortunate to live in a world where we can now reduce the inheritance of deadly genetic diseases via IVF. It's such an incredible gift and I am fortunate to have had the opportunity to give my children a better outlook than I had."

SGF is also dedicated to helping patients with cancer receive fertility preservation care. SGF has a specially trained team that works specifically with people with cancer to ensure the fertility preservation process before cancer treatment can be expedited in order that cancer treatment can quickly begin. The oncofertility team at SGF helps to guide patients through each step of the treatment process, from finding ways to afford treatment to the actual medical procedure.

If you would like to learn more about SGF's oncofertility treatment options or to schedule an appointment, please call the New Patient Center at 1-888-761-1967 or complete this brief online form.

About Shady Grove Fertility (SGF) SGF is a leading fertility and IVF center of excellence with more than 100,000 babies born. With 43 locations, including new locations in Colorado and Norfolk, VA, as well as throughout CO, FL, GA, MD, NY, PA, VA, D.C., and Santiago, Chile, SGF offers patients virtual physician consults, delivers individualized care, accepts most insurance plans, and makes treatment more affordable through innovative financial options, including 100% refund guarantees. More physicians refer their patients to SGF than any other center. SGF is among the founding partner practices of US Fertility, the largest physician-owned, physician-led partnership of top-tier fertility practices in the U.S. Call 1-888-761-1967 or visit ShadyGroveFertility.com.

Media Contact

Jean Dzierzak, Shady Grove Fertility, 301-545-1375, jean.dzierzak@sgfertility.com

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Advancements in reproductive medicine available at Shady Grove Fertility (SGF) can reduce the inheritance of genetic diseases like breast cancer -...

Rhythm Pharmaceuticals Presents New Data on Experience of People Living with Rare Genetic Diseases of Obesity and Provides Updates on Uncovering Rare…

-- New data in patients with POMC or LEPR deficiency obesity show setmelanotide led to clinically meaningful improvements in health related quality of life measures and hunger -- -- Updated results from Uncovering Rare Obesity testing program suggest up to 64.5 percent of individuals with early-onset, severe obesity may carry variants linked to rare genetic diseases of obesity -- -- Additional posters include encore presentations of data from Phase 3 trial evaluating setmelanotide in BBS and Phase 2 trial in HET obesity, as well as Phase 1b trial evaluating once-weekly setmelanotide --

BOSTON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company committed to transforming the care of people living with rare genetic diseases of obesity, today presented the first-ever data on the health related quality of life (HRQOL) and experience of patients with obesity due to POMC or LEPR deficiency and updated results from the Uncovering Rare Obesity (URO) genetic testing program at the Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience (DX) Oct. 14-23.

The Company and its collaborators delivered four poster presentations, including:

New HRQOL data from post-hoc analyses of Phase 3 trials evaluating setmelanotide in patients with POMC or LEPR deficiency obesity that showed setmelanotide treatment led to sustained, clinically meaningful HRQOL improvements in a majority of patients;

New results from a study based on in-depth patient interviews conducted in patients with POMC and LEPR deficiency obesity enrolled in Rhythms pivotal Phase 3 trials, which highlighted that the reduced hunger and improved satiety resulting from setmelanotide treatment substantially and meaningfully changed patients lives; and

Two presentations detailing updated results from Rhythms URO genetic testing of approximately 8,500 people in the United States with early-onset, severe obesity project that:

64.5% of individuals who had genetic sequencing performed may carry variants associated with rare genetic diseases of obesity, including 54.6% with variants in the melanocortin-4 receptor (MC4R) pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or for treatment with IMCIVREE; and

1.96% of individuals who had genetic sequencing performed may carry biallelic variants in one of 22 Bardet-Biedl Syndrome (BBS)-associated genes or the ALMS1 gene, of which up to 0.34% carried variants considered pathogenic or likely pathogenic.

These new data contribute to the growing body of evidence that supports setmelanotides potential to deliver clinically meaningful weight loss and clinically meaningful improvements in patient reported hyperphagia, as well as HRQOL, reinforcing the value of setmelanotides potential for the treatment of rare genetic diseases of obesity of the MC4R pathway, said Linda Shapiro, M.D., Ph.D., Chief Medical Officer of Rhythm. As we prepare to initiate our next wave of clinical trials, we are encouraged by these new results from the URO genetic testing program, which suggest the potential prevalence of genetic variants among people living with early-onset, severe obesity. These results reinforce the importance of genetic testing for clinical decision making in individuals with early-onset, severe obesity and hyperphagia and support our plans to initiate the Phase 3 EMANATE and Phase 2 DAYBREAK trials later this year, which will expand our clinical development of setmelanotide into patients with variants in any of 36 genes that may impair the MC4R pathway.

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New HRQOL Data and Patient-reported Experience of Hunger from Phase 3 Trials in POMC and LEPR Deficiency ObesitiesInvestigators presented two posters with data generated from post-hoc analyses of the Companys Phase 3 trials in POMC and LEPR deficiency obesities.

In a presentation entitled, Quality of Life in POMC or LEPR Deficiency: Setmelanotide Phase 3 Trials, Peter Khnen, M.D., Charit - Universittsmedizin Berlin, Corporate Member of Freie Universitt Berlin und Humboldt-Universitt zu Berlin, Institute for Experimental Pediatric Endocrinology presented data on the HRQOL burden improvements before and after treatment with setmelanotide.1 Highlights include:

Setmelanotide resulted in clinically meaningful improvement in HRQOL in eight of 13 (73%) of patients after 52 weeks of treatment, with improvements in HRQOL that were 2 to 3 times larger than the relevant meaningful threshold; and

Meaningful HRQOL improvements were observed as early as Week 5 on therapy, and these improvements were maintained throughout the study as they mirrored clinically meaningful hunger reductions and weight loss in these patients.

Martin Wabitsch, M.D. Division of Pediatric Endocrinology and Diabetes, Center for Rare Endocrine Diseases, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany, presented qualitative data from a series of patient interviews in a poster entitled, Patient Experience of Hunger in POMC or LEPR Deficiency. Patients reported that hyperphagia and the constant inability to feel satiety negatively affects their HRQOL, while reduced hunger and improved satiety achieved on setmelanotide therapy substantially and meaningfully changed their lives, profoundly improving their ability to function at school or work. Additionally, these patients reported that discontinuing treatment with setmelanotide would be devastating.

The results of these studies underscore the tremendous burden of POMC and LEPR deficiency obesity, better characterizing the experience of people living with these conditions and highlighting the significant impact of severe obesity and insatiable hunger on their daily lives, said Dr. Khnen. Importantly, these data suggest setmelanotide can deliver clinically meaningful HRQOL benefits, reducing the significant burden of disease by providing patients with improvements in their feelings of insatiable hunger, in addition to substantial weight loss. These results further reinforce the value of setmelanotide as the first U.S., EU and UK-approved precision medicine for chronic weight management in POMC and LEPR deficiency obesities.

Updated Data from the URO Testing ProgramIda Moeller, ScD, ScM, MMSc, Director of Biomedical Informatics at Rhythm, presented, Variants in Obesity-related Genes in a Population with Early-onset Obesity. Rhythms URO testing program is designed to expand access to genetic testing for patients with suspected rare genetic diseases of obesity in the U.S. As of July 12, 2021, Rhythm had collected genetic sequences from approximately 8,500 individuals with early-onset, severe obesity, including 788 individuals who had genetic sequencing performed on the Companys updated genetic panel with 79 genes and the full chromosomal region 16p11.2.

Based on an integrated yield weighted by the number of individuals sequenced for each gene, utilizing the data from the two panels (the original panel and the updated expanded panel), Rhythm projects that 64.5% of individuals sequenced may carry actionable variants linked to rare genetic diseases of obesity.2 Rhythm also estimates that 54.6% of individuals sequenced carry variants in the MC4R pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or commercial treatment with IMCIVREE.

Additionally, Dr. Robert Haws, M.D., Marshfield Clinical Research Institute, presented, Frequency of BBS and ALMS1 Variants in a Cohort With Early-onset Obesity. Based on updated URO results, the Company projects that 0.34% of individuals with early-onset, severe obesity may carry pathogenic or likely pathogenic variants in genes known to be associated with BBS or Alstrom syndrome (or 0.24%, excluding patient samples from a leading BBS clinic where higher frequency of BBS-related variants would expected). Including patients with variants of unknown significance (VUS), Rhythm estimates that 1.96% of individuals with early-onset, severe obesity may carry biallelic variants in one of 22 known BBS-associated genes or ALMS1.3

Also at the Overcoming Obesity 2021 Conference, Rhythm and its collaborators presented three additional abstracts as posters, all of which detailed previously reported clinical data:

Efficacy and Safety of the Melanocortin-4 Receptor Agonist Setmelanotide in Obesity Due to Bardet-Biedl Syndrome: a Phase 3 Trial, as presented by Dr. Robert Haws, M.D., Marshfield Clinical Research Institute;

Setmelanotide in POMC, PCSK1, or LEPR Heterozygous Deficiency Obesity (Phase 2), as presented by Sadaf Farooqi, Ph.D., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, University of Cambridge;

Trial of a Once-Weekly Setmelanotide Formulation in Patients with Obesity, as presented by Annette Valles-Sukkar, Director Clinical Operations, Rhythm Pharmaceuticals.

All Rhythms presentations from Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience will be available on the Publication and Presentations section of its website: https://www.rhythmtx.com/publications/ .

About Rhythm PharmaceuticalsRhythm is a commercial-stage biopharmaceutical company committed to transforming the treatment paradigm for people living with rare genetic diseases of obesity. Rhythms precision medicine, IMCIVREE (setmelanotide), was approved in November 2020 by the U.S. Food and Drug Administration (FDA) for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency confirmed by genetic testing and in July and September 2021, respectively, by the European Commission (EC) and Great Britains Medicines & Healthcare Products Regulatory Agency (MHRA) for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE is the first-ever FDA-approved and EC- and MHRA-authorized therapy for patients with these rare genetic diseases of obesity. Rhythm is advancing a broad clinical development program for setmelanotide in other rare genetic diseases of obesity, and is leveraging the Rhythm Engine and the largest known obesity DNA database -- now with approximately 37,500 sequencing samples -- to improve the understanding, diagnosis and care of people living with severe obesity due to certain genetic deficiencies. Rhythms headquarters is in Boston, MA.

IMCIVREE (setmelanotide) IndicationIn the United States, IMCIVREE is indicated for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. The condition must be confirmed by genetic testing demonstrating variants in POMC, PCSK1, or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS).

In the EU and Great Britain, IMCIVREE is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE should be prescribed and supervised by a physician with expertise in obesity with underlying genetic etiology.

Limitations of UseIMCIVREE is not indicated for the treatment of patients with the following conditions as IMCIVREE would not be expected to be effective:

Obesity due to suspected POMC, PCSK1, or LEPR deficiency with POMC, PCSK1, or LEPR variants classified as benign or likely benign;

Other types of obesity not related to POMC, PCSK1 or LEPR deficiency, including obesity associated with other genetic syndromes and general (polygenic) obesity.

Important Safety Information

WARNINGS AND PRECAUTIONS

Disturbance in Sexual Arousal: Sexual adverse reactions may occur in patients treated with IMCIVREE. Spontaneous penile erections in males and sexual adverse reactions in females occurred in clinical studies with IMCIVREE. Instruct patients who have an erection lasting longer than 4 hours to seek emergency medical attention.

Depression and Suicidal Ideation: Some drugs that target the central nervous system, such as IMCIVREE, may cause depression or suicidal ideation. Monitor patients for new onset or worsening of depression. Consider discontinuing IMCIVREE if patients experience suicidal thoughts or behaviors.

Skin Pigmentation and Darkening of Pre-Existing Nevi: IMCIVREE may cause generalized increased skin pigmentation and darkening of pre-existing nevi due to its pharmacologic effect. This effect is reversible upon discontinuation of the drug. Perform a full body skin examination prior to initiation and periodically during treatment with IMCIVREE to monitor pre-existing and new skin pigmentary lesions.

Risk of Serious Adverse Reactions Due to Benzyl Alcohol Preservative in Neonates and Low Birth Weight Infants: IMCIVREE is not approved for use in neonates or infants.

ADVERSE REACTIONS

The most common adverse reactions (incidence 23%) were injection site reactions, skin hyperpigmentation, nausea, headache, diarrhea, abdominal pain, back pain, fatigue, vomiting, depression, upper respiratory tract infection, and spontaneous penile erection.

USE IN SPECIFIC POPULATIONSDiscontinue IMCIVREE when pregnancy is recognized unless the benefits of therapy outweigh the potential risks to the fetus.

Treatment with IMCIVREE is not recommended for use while breastfeeding.

To report SUSPECTED ADVERSE REACTIONS, contact Rhythm Pharmaceuticals at +1 (833) 789-6337 or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

See Full Prescribing Information, EU SmPC and MHRA SmPC for IMCIVREE.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding the potential, safety, efficacy, and regulatory and clinical progress of setmelanotide, our expectations surrounding potential regulatory submissions, approvals and timing thereof, our business strategy and plans, including regarding commercialization of setmelanotide, and our participation in upcoming events and presentations. Statements using word such as expect, anticipate, believe, may, will and similar terms are also forward-looking statements. Such statements are subject to numerous risks and uncertainties, including, but not limited to, our ability to enroll patients in clinical trials, the design and outcome of clinical trials, the impact of competition, the ability to achieve or obtain necessary regulatory approvals, risks associated with data analysis and reporting, our liquidity and expenses, the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies, clinical trials and commercialization prospects, and general economic conditions, and the other important factors discussed under the caption Risk Factors in our Quarterly Report on Form 10-Q for the quarterly period ended June 30, 2021 and our other filings with the Securities and Exchange Commission. Except as required by law, we undertake no obligations to make any revisions to the forward-looking statements contained in this release or to update them to reflect events or circumstances occurring after the date of this release, whether as a result of new information, future developments or otherwise.

Corporate Contact:David ConnollyHead of Investor Relations and Corporate CommunicationsRhythm Pharmaceuticals, Inc.857-264-4280dconnolly@rhythmtx.com

Investor Contact:Hannah DeresiewiczStern Investor Relations, Inc.212-362-1200hannah.deresiewicz@sternir.com

Media Contact:Adam DaleyBerry & Company Public Relations212-253-8881adaley@berrypr.com

_______________________________1 Assessments were taken for patients in Rhythms Phase 3 trials who experienced weight loss of at least five kilograms (or at least five percent of baseline body weight for the patients who weighed less than 100 kg). QOL was assessed using the Impact of Weight on Quality of Life-Lite (IWQOL-Lite) scale for patients 18 years or older, and using the Pediatric Quality of Life Inventory (PedsQL) for children and adolescents aged 8 to 12 and 13 to 17 years, respectively.2 The 64.5% figure represents a weighted yield from 8,599 URO samples collected as of July 12, 2021. Prior to May 2021, Rhythms URO panel tested for variants in 40 obesity-related genes, including 11 genes eligible for the DAYBREAK or EMANATE trials; data for those 11 genes is available in all 8,599 samples. Rhythm launched URO 2.1/3.0 in early May 2021, which now sequences 79 obesity-related genes and the 16p11.2 chromosomal region, including 25 additional DAYBREAK/EMANATE genes. Data on all 79 genes (including all 36 DAYBREAK/EMANATE genes) was available for 788 patients, and then used to calculate a weighted yield across the total study population.3 Data on the frequency of BBS and ALMS1 variants were collected from URO samples as of July 5, 2021, which included a smaller sample size of 8,459 sequenced individuals.

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Rhythm Pharmaceuticals Presents New Data on Experience of People Living with Rare Genetic Diseases of Obesity and Provides Updates on Uncovering Rare...

Hyris Brings to Market Worldwide a New Test That Can Quickly Detect the Body’s T-Cell Immune Response to SARS-CoV-2, Thanks to a Partnership With…

Hyris developed a rapid T-cell test to track patients' immunity levels to SARS-CoV-2 for global clinical use after having inked an exclusive licensing agreement with Duke-NUS Medical School. This new solution leverages the Hyris SystemTM, a proprietary platform that enables genetic testing in any setting, at any time, with results available in real-time through its AI-powered platform.

Hyris supports research over COVID-19 Immunity

LONDON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- After almost two years of fight against COVID-19, governments, NGOs, and corporations are now focusing on strategies and solutions to boost population immunity and move onto the next phase - possibly out of the pandemic.

Hyris, a global, innovation-based biotechnology company renowned for its inclusive approach to genetic analysis, offers a wide range of solutions to support medical professionals and decision-makers in the fight against COVID-19. The proprietary genetic testing Hyris SystemTM has been successfully used to detect the presence of the Coronavirus on surfaces and environments (the SARS-CoV-2 Environmental test) and the infection COVID-19 into individuals (SARS-CoV-2 Human test). The tests have been able to reliably detect the presence of all the main Variants of Concern since July 2020, helping to keep people safe around the world effectively.

"Alongside with limiting the spread of SARS-CoV-2 new variants and potential hotspots, getting high immunity rates among populations is the number one priority for policymakers and health institutions," says Stefano Lo Priore, Founder and CEO at Hyris. "Hyris integrated its solutions with a simple yet effective test, to measure a patient T-cell immune response to the SARS-CoV-2 virus, which causes COVID-19."

The T-cell clinical test kit was developed through an exclusive licensing agreement between Hyris and Duke-NUS Medical School. "This new kit enables quick evaluation of T-cell immune responses in COVID-19 convalescent patients as well as vaccinated people," adds Isabella Della Noce, Chief Biologist at Hyris. "This is a new dimension for vaccine strategies as we face the threat of new virus variants."

Story continues

Led by Professor Antonio Bertoletti from the Programme in Emerging Infectious Diseases at Duke-NUS, the research team discovered a simple and rapid method to measure the T-cell immune response to the SARS-CoV-2 virus. The study, titled "Rapid measurement of SARS-CoV-2 spike T cells in whole blood from vaccinated and naturally infected individuals", was published in the Journal of Clinical Investigation.

According to Duke-NUS' press release, this discovery allows a rapid and large-scale expansion of studies to track T-cell activity across the world while not requiring specialised or expensive equipment, helping to define the correlates of protection from T-cells and antibodies for the development of COVID-19 vaccines.

Many progressive organisations and medical centres worldwide have already chosen the Hyris System as the ideal 'Point of Care' solution in the fight against COVID-19. Such a test is a prime example of how scientific innovation is key to the fight against the SARS-CoV-2 virus. "Today, more than ever before, we need wider access to diagnostic systems and tests, but also to support and validate vaccination campaigns around the world," concludes Lo Priore.

Contact a Hyris expert to discover how to perform beyond your current diagnostic capability info@hyris.net.

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Direct-to-consumer Genetic Testing Market 2021 Global Outlook, Research, Trends and Forecast to 2026 – Northwest Diamond Notes

The Direct-to-consumer Genetic Testing market report provides a granular assessment pertaining to the key development trends and dynamics impacting this industry landscape over the analysis timeframe. It offers significant inputs with respect to the regulatory outlook as well as geographical landscape of this business space. The study also elaborates on the factors that are positively influencing the overall market growth and encloses a detailed SWOT analysis. Additionally, the document comprises of limitations & challenges impacting the future remuneration and y-o-y growth rate of this market.

The report offers an in-depth analysis of the competitive landscape alongside raw materials and downstream buyers of Direct-to-consumer Genetic Testing market. Moreover, the study assesses the effect of COVID-19 pandemic on the growth opportunities of this industry vertical.

Elaborating on the competitive landscape of Direct-to-consumer Genetic Testing market:

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Other details enlisted in the Direct-to-consumer Genetic Testing market report:

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Key Benefits of the Report:

Development policies and plans arediscussed as well as growth rate, manufacturing processes, economic growth are analyzed. This research report also states import or export data, industry supply, and consumption figures as well as cost structure, price, industry revenue (Million USD), and gross margin by regions like North America, Europe, Japan, China, and other countries.

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Global Direct-to-consumer Genetic Testing Market Market Overview

Global Direct-to-consumer Genetic Testing Market Industry Trends

Global Direct-to-consumer Genetic Testing Market Component Outlook

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Global Direct-to-consumer Genetic Testing Market Types Outlook

Global Direct-to-consumer Genetic Testing Market By Regional Outlook

Competitive Landscape & Company Profile.

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Novel Procedure Considered an ‘Acceptable Method’ to Preventing Transmission of Hereditary Cancer Mutations to Children – Curetoday.com

People who are at a greater risk for developing, or have previously received a diagnosis of, a hereditary cancer have an acceptable method available to them to identify what the chances of passing those and other genetic mutations on to their future children are.

The procedure, known as preimplantation genetic testing, helps identify what, if any, genetic abnormalities are present in embryos that were created during the process of in vitro fertilization (IVF).

This procedure may effectively aid people with a previous diagnosis, or risk, of hereditary cancer from passing those genetic mutations on to future offspring.

During the recent 12th Annual Joining FORCES Against Hereditary Cancer Conference, Dr. Terri L. Woodard, an associate professor in the Department of Gynecologic Oncology and Reproductive Medicine at The University of Texas MD Anderson Cancer Center in Houston, discussed the topic of fertility preservation and parenting issues that cancer survivors and previous often face. Moreover, Woodard highlighted what people should know about certain genetic testing procedures.

Increase in Genetic Mutations

Woodard noted that previous research has shown that adolescents and young adults diagnosed with cancers that are frequently associated with old age often have a higher percentage of inherited cancer mutations.

However, she explained, those rates are higher than were once thought.

In fact, Woodard cited a study of more than 1,000 adolescents aged between 18 years and 39 years and noted that the results demonstrated that approximately 21% of the participants diagnosed with early-onset cancer had a germline mutation. Only 13% of the remaining patients had a germline mutation.

This just highlights the fact that many of these young individuals have genetic mutations that can be passed down along to their offspring, she said. Because these patients are younger, there are often fertility and family building issues that arise.

Fertility and Future Family Planning Concerns

There are several genetic conditions associated with a greater cancer risk, according to Woodard. If people have any of those conditions, they are likely to want to pursue genetic testing. For instance, she highlighted hereditary breast and ovarian cancer syndrome. Woodard noted that many of these patients may experience some form of infertility at a younger age than other people. These patients also may need to undergo risk-reducing surgeries to prevent ovarian cancer.

Another condition, known as Li-Fraumeni syndrome, is associated with a greater risk for developing sarcomas, central nervous system tumors, breast cancer and gonadal germ cell tumors all of which, according to Woodard, negatively affect a persons fertility.

Thats why, she said, many of these individuals need to be partaking in fertility preservation conversations with their care team.

Additionally, some of these cancers may require treatment that negates a persons ability to have children.

Fertility Preservation Methods

Woodard shared insight on some of the fertility preservation methods that people have access to. She noted that eggs, embryos and sperm can all be frozen for use later. Ovarian and testicular tissue freezing are also possibilities, according to Woodard.

Another option available to patients who require radiation to the areas surrounding their reproductive organs is gonadal shielding. In this instance, radiology technicians use protective shields to minimize radiation exposure to certain areas.

People can also go through an experimental approach known as ovarian suppression. Woodard explained that a gonadotropin-releasing hormone agonist is used in women to suppress the ovary during chemotherapy.

The thought is that a quiet ovary is more resistant to the effects of chemotherapy than one that is actively cycling, she said during her presentation.

She cautioned, however, that the data that are available on this approach are quite variable.

Family Building Options

There are a great range of opportunities available to patients when deciding to have a family, Woodard explained. Depending on their comfort levels, she said, options available to patients range from natural conception to IVF and plenty more.

For people who may have premature ovarian failure because of their cancer treatment, there is an option to use donor eggs, sperm or embryos. There are also gestational carriers for women who may no longer have a uterus or are deemed too high risk to carry a pregnancy to full-term.

And lastly, Woodard noted that people can pursue adoption. However, she explained, it can sometimes be difficult for people with a history of cancer to adopt.

Sometimes adoption can be challenging for survivors of cancer because some agencies see it as too risky and do not allow those patients to have kind of the initial screening, she said. Asking an adoption agency, whether a cancer diagnosis will disqualify them early on, is a very important question for patients to ask.

Genetic Testing for Future Children

Woodard concluded her discussion by reviewing genetic testing methods that are available for patients to use for assessing the possibility of passing inherited mutations down to future children.

Patients who are already pregnant may use prenatal genetic testing, she said. Prenatal screening lets the parents know what the chances are that the child would have abnormal genetics. Diagnostic prenatal tests are slightly different in that they can show if a fetus is affected with a certain disorder.

The problem with prenatal genetic testing is that the patient is already pregnant, she said. If we find an abnormality, it really has some implications and has patients (making) some hard decisions on whether they would want to continue the pregnancy or not.

For those patients who are not yet pregnant and may be considering IVF, preimplantation genetic testing is a viable option.

Woodard explained that an embryo is tested after the initial IVF prior to transplanting the embryo back into the patients uterus. There are several types of preimplantation genetic testing, but one specifically tests the embryo for a specific gene.

If a woman is a carrier of a BRCA mutation, and she wants to test her embryo for that mutation, this is the type of testing we would use, she explained.

Although some consider preimplantation genetic testing to be unethical or controversial because some people use it for sex selection of their baby Woodard noted its a viable option for many trying to start a family without passing genetic mutations down to their offspring.

(Preimplantation genetic testing) is an acceptable method to prevent transmission of mutations to offspring, but requires in-depth genetic counseling and support, she concluded.

For more news on cancer updates, research and education, dont forget tosubscribe to CUREs newsletters here.

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What’s Going on With Fulgent Genetics? – The Motley Fool

The company is leveraging success with its COVID-19 tests to position itself better for a post-pandemic world. Key Points

Fulgent Genetics' (NASDAQ:FLGT) sales soared thanks to its COVID-19 tests. Its stock more than quadrupled in 2020 and is up over 50% so far this year. In this Motley Fool Live video recorded on Sept. 29, 2021, Motley Fool contributors Keith Speights and Brian Orelli discuss what's going on now with Fulgent.

Keith Speights: Your thoughts on Fulgent Genetics, ticker is FLGT?

Brian Orelli: The company is still developing genetic tests, which was what they were doing before the pandemic. They're still doing COVID-19 testing, which is what they pivoted or added during the pandemic. Then they are using all that cash that they're getting from the COVID-19 to expand fairly quickly.

They bought a company that does more other types of tests for cancers, looking at imaging the tumors and that thing and looking at the chromosomes. I think that they are using that to expand their offerings, so now that they will be able to do genetic testing on the tumors, but also offer other services. That should make them a one-stop-shop for tumors.

They also did a deal with another company that has a predictive test, I believe, for cancer. They're partnering with that company. The other one was an acquisition where they just bought the whole testing facility to expand their offerings in cancer.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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Florida Cancer Specialists & Research Institute Expands Next Generation Genomic Testing Capabilities to Advance Cancer Care – OncLive

Expanded in-house testing capabilities enable faster and more accurate diagnosis, prognosis and treatment planning for a wide variety of cancers.

Florida Cancer Specialists & Research Institute (FCS) recently expanded its molecular testing capabilities at its state-of-the-art Pathology Laboratory in Fort Myers and is providing patients with clinical next-generation sequencing (NGS) that are offered at FCS clinics throughout Florida. NGS testing is available for testing of solid tumors and hematologic malignancies and lymph nodes.

Through its NGS tests, FCS pathologists can detect oncogenic mutations in hundreds of different genes, tumor mutational burden and microsatellite instability simultaneously. This form of genetic testing allows clinicians to make faster diagnoses of a wide range of cancers while providing recommendations for clinical trials options and personalized therapies based on each patients results.

This latest innovation has been a collaboration and strategic vision of FCS executive and physician leadership along with the medical and clinical teams at the FCS Pathology Lab. Having NGS capabilities and resources housed and managed within the organization further complements FCS genetics counseling capabilities by enabling the development of more comprehensive risk assessments.

FCS Chief Executive Officer Nathan H. Walcker said, We see tremendous clinical and strategic value to performing this very important testing in-house. With genomic testing, we are providing our physicians with enhanced tools to optimize treatment options for our patients, including improved clinical trial matching opportunities.

Adding Next Generation Sequencing capabilities is very exciting and will certainly open up more clinical trial opportunities for our patients and practice, said Manish Patel, MD, FCS Director of Drug Development. We have many clinical trials that involve molecularly targeted therapies, and these will now be more efficiently matched to our patients mutational profiles.

This level of advanced laboratory services is rarely available from a community oncology practice, Walcker continued. Our continuous investments in the highest quality and most advanced technologies and the partnerships we have established with globally recognized industry leaders further enhances our ability to deliver truly personalized medicine to our patients, leading to more positive outcomes.

According to FCS President & Managing Physician Lucio Gordan, Centralized NGS capabilities can help drive the ultimate patient-centered goal of more personalized therapy and increased cure and response rates through faster molecular diagnosis and treatment planning. NGS testing can provide us with a clearer and more distinct understanding of each patients individual diagnosis, he concludes.

FCS established critical partnerships with global technology and software leaders in NGS testing and has built the fundamental infrastructure for the success of the lab that includes a dedicated laboratory geneticist, molecular pathologist and supporting clinical experts.

Following FCS clinical research and development, together with its independent test validations of Illumina 500+ solid tumor panel; Invitae VariantPlex Myeloid panel and the Invitae FusionPlex PanHeme panel on the Illumina NextSeq 550Dx sequencing platform, FCS is now able to offer these tests to current patients.

The genetic test results are analyzed and interpreted by FCS variant scientists using the PierianDx CGW software. Powered by a comprehensive knowledgebase and secure, scalable data analysis platform, PierianDx CGW will enable FCS to perform quick and accurate classification and interpretation of the results to help identify FDA-approved therapies or match patients within the practices large network of participating clinical trials.

The launch of the NGS lab and testing capabilities has been positively received among physicians and clinicians throughout FCS. Providing NGS capabilities and expertise inhouse greatly enhances access and integration of molecular testing into precision treatment planning, said FCS Assistant Managing Physician Michael Diaz, MD.

Having Florida Cancer Specialists and Research Institute as a customer represents another important step in our journey to bring genomic solutions to the fight against cancer, said Phil Febbo, MD, Chief Medical Officer at Illumina. By unlocking the power of the genome, we will help researchers and clinicians process, analyze and make genomic data more accessible to advance future cancer care and improve outcomes.

As pioneers in genetics, Invitae is focused on making genetic information available to as many people as possible who can benefit from it. We are delighted and proud to begin this strategic collaboration with FCS and applaud the practice for embracing and investing in this groundbreaking approach. It will not only expand access to genetic testing but will truly transform oncology care in the years to come, said Robert Daber, Chief Scientific Officer, Oncology, of Invitae.

We are thrilled to provide our best-in-class bioinformatics and knowledge platform to support personalized, community-based cancer care, states Mark McDonough, CEO of PierianDx. Partnering with leading-edge institutions like Florida Cancer Specialists aligns with our mission to democratize clinical genomics and to vastly advance the precision and accuracy of cancer care.

Recognized by the American Society of Clinical Oncology (ASCO) with a national Clinical Trials Participation Award, Florida Cancer Specialists & Research Institute (FCS) offers patients access to more clinical trials than any private oncology practice in Florida. In the past four years, the majority of new cancer drugs approved for use in the U.S. were studied in clinical trials with Florida Cancer Specialists participation. * Trained in prestigious medical schools and research institutes, our physicians are consistently ranked nationally as Top Doctors by U.S. News & World Report.

Founded in 1984, Florida Cancer Specialists has built a national reputation for excellence that is reflected in exceptional and compassionate patient care, driven by innovative clinical research, cutting-edge technologies and advanced treatments, including targeted therapies, genomic-based treatment, and immunotherapy. Our highest values are embodied by our outstanding team of highly trained and dedicated physicians, clinicians and staff.

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People urged to take part in genetic study of Scottish Traveller community – The National

PEOPLE who have at least two grandparents from the Scottish Traveller community are urged to take part in the first genetic study of the group.

Edinburgh University researchers are seeking to understand how Scottish Travellers relate to Irish Travellers, English Gypsies and Welsh Kale, as well as those in settled communities.

Those who take part will be asked to provide a saliva sample for genetic testing, as well as complete a survey about their health and lifestyles.

Previous research helped to define the Irish Traveller community as a distinct ethnic group, the university said.

Lead researcher, Professor Jim Wilson, said: Scottish Traveller groups have never been involved in studies using the power of modern genetics. I was delighted to be asked by representatives of this community to carry out a study that will reveal how the Traveller communities fit into the genetic landscape of Scotland and the British Isles.

Samantha Donaldson, a Scottish Traveller from Dunfermline and a member of the studys public involvement panel, said: For us Travellers, also known as Nacken, this study could be very useful.

Many myths surround our origins, so the study could potentially prove or disprove some of these stories. Travellers have some of the greatest health inequalities in Scotland.

If we are genetically predisposed to certain conditions more than other groups, or if we have illnesses that are more likely to affect us,

then health professionals may be able to use data to address some of these inequalities.

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People urged to take part in genetic study of Scottish Traveller community - The National

New Analysis from Global Industry Analysts Reveals Steady Growth for Animal Genetics, with the Market to Reach $7 Billion Worldwide by 2026 -…

FACTS AT A GLANCEEdition:9;Released:April 2021Executive Pool:383Companies:42 - Players covered include Alta Genetics, Inc.; Animal Genetics Inc.; Crv Holding B.V.; Envigo, Inc.; Ew Group GmbH; Genus PLC; Hendrix Genetics BV; Neogen Corporation; Vetgen; Zoetis, Inc. and Others.Coverage:All major geographies and key segmentsSegments:Product & Service (Live Animals, Genetic Materials, Animal Genetic Testing Services)Geographies:World; United States; Canada; Japan; China; Europe (France; Germany; Italy; United Kingdom; and Rest of Europe); Asia-Pacific; Rest of World.

Complimentary Project Preview -This is an ongoing global program. Preview our research program before you make a purchase decision. We are offering a complimentary access to qualified executives driving strategy, business development, sales & marketing, and product management roles at featured companies. Previews provide deep insider access to business trends; competitive brands; domain expert profiles; and market data templates and much more. You may also build your own bespoke report using our MarketGlass Platform which offers thousands of data bytes without an obligation to purchase our report.Preview Registry

ABSTRACT-

Global Animal Genetics Market to Reach $7 Billion by 2026Amid the COVID-19 crisis, the global market for Animal Genetics estimated at US$4.6 Billion in the year 2020, is projected to reach a revised size of US$7 Billion by 2026, growing at a CAGR of 7% over the analysis period. Live Animals, one of the segments analyzed in the report, is projected to record a 7.6% CAGR and reach US$5.1 Billion by the end of the analysis period. After a thorough analysis of the business implications of the pandemic and its induced economic crisis, growth in the Genetic Materials segment is readjusted to a revised 6.8% CAGR for the next 7-year period.

The U.S. Market is Estimated at $1.5 Billion in 2021, While China is Forecast to Reach $1.2 Billion by 2026The Animal Genetics market in the U.S. is estimated at US$1.5 Billion in the year 2021. China, the world`s second largest economy, is forecast to reach a projected market size of US$1.2 Billion by the year 2026 trailing a CAGR of 6.5% over the analysis period. Among the other noteworthy geographic markets are Japan and Canada, each forecast to grow at 6.6% and 5.6% respectively over the analysis period. Within Europe, Germany is forecast to grow at approximately 5.7% CAGR.

Animal Genetic Testing Services Segment to Reach US$836.6 Million by the year 2026In the global Animal Genetic Testing Services segment, USA, Canada, Japan, China and Europe will drive the 4.4% CAGR estimated for this segment. These regional markets accounting for a combined market size of US$514.3 Million in the year 2020 will reach a projected size of US$696.9 Million by the close of the analysis period. China will remain among the fastest growing in this cluster of regional markets. More

MarketGlass PlatformOur MarketGlass Platform is a free full-stack knowledge center that is custom configurable to today`s busy business executive`s intelligence needs! This influencer driven interactive research platform is at the core of our primary research engagements and draws from unique perspectives of participating executives worldwide. Features include - enterprise-wide peer-to-peer collaborations; research program previews relevant to your company; 3.4 million domain expert profiles; competitive company profiles; interactive research modules; bespoke report generation; monitor market trends; competitive brands; create & publish blogs & podcasts using our primary and secondary content; track domain events worldwide; and much more. Client companies will have complete insider access to the project data stacks. Currently in use by 67,000+ domain experts worldwide.

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About Global Industry Analysts, Inc. & StrategyRGlobal Industry Analysts, Inc., (www.strategyr.com) is a renowned market research publisher the world`s only influencer driven market research company. Proudly serving more than 42,000 clients from 36 countries, GIA is recognized for accurate forecasting of markets and industries for over 33 years.

CONTACTS:Zak AliDirector, Corporate CommunicationsGlobal Industry Analysts, Inc.Phone: 1-408-528-9966www.StrategyR.com Email: [emailprotected]

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New Analysis from Global Industry Analysts Reveals Steady Growth for Animal Genetics, with the Market to Reach $7 Billion Worldwide by 2026 -...

Rhythm Pharmaceuticals Completes Submission of Type II Variation Application to the European … – Tyler Morning Telegraph

BOSTON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company committed to transforming the care of people living with rare genetic diseases of obesity, today announced that it has submitted its Type II variation application to the European Medicines Agency (EMA) for IMCIVREE (setmelanotide) for the treatment of obesity and control of hunger in adult and pediatric patients six years of age and older with Bardet-Biedl syndrome (BBS) or Alstrm syndrome.

This marks an important milestone toward our goal of delivering IMCIVREE globally to patients with BBS and, ultimately, many other rare genetic diseases of obesity, said David Meeker, M.D., Chairman, President and Chief Executive Officer of Rhythm. IMCIVREE achieved clinically meaningful and statistically significant results in our Phase 3 trial in BBS and provided evidence of marked and sustained weight loss in patients with Alstrm syndrome treated in our Phase 2 and 3 trials. Based on these data, we believe IMCIVREE will be the first medicine to effectively address the severe, early-onset obesity and hyperphagia that characterize these diseases. We look forward to working closely with regulatory authorities in the European Union to deliver IMCIVREE to these additional populations.

The BBS community in the EU is particularly well established, with approximately 1,500 patients diagnosed and being cared for at academic centers, said Yann Mazabraud, Executive Vice President, Head of International of Rhythm. Importantly, many of these patients present with the severe obesity and hyperphagia that treatment with IMCIVREE is designed to address. We are eager to continue our targeted efforts to increase understanding of BBS and the potential benefits of IMCIVREE and, if authorised, look forward to bringing this treatment to market quickly as a key step toward transforming the care of people living with rare genetic diseases of obesity.

The EMA submission is based on data from Rhythms pivotal Phase 3 clinical trial of setmelanotide in patients with BBS or Alstrm syndrome. The EMA submission is based on data from Rhythms pivotal Phase 3 clinical trial of setmelanotide in patients with BBS or Alstrm syndrome. As previously reported, the study met its primary endpoint and all key secondary endpoints, with statistically significant and clinically meaningful reductions in weight and hunger at 52 weeks on therapy. All patients who met the primary endpoint defined as more than 10 percent weight loss had BBS and none had Alstrm syndrome. However, data from this Phase 3 trial is supported by results from the Phase 2 trial, which suggest that treatment with setmelanotide may result in decreased weight and hunger in people living Alstrm syndrome. In addition, data from a predefined exploratory endpoint showed that, in BBS and Alstrm syndrome patients younger than 18 years old, setmelanotide treatment was associated with clinically meaningful reductions in BMI-Z scores. The BMI-Z score, or BMI standard deviation score, represents the number of standard deviations from median BMI by child age and sex.

About Bardet-Biedl and Alstrm Syndromes BBS and Alstrm syndrome are ultra-rare genetic diseases that affect multiple organ systems. Clinical features of BBS may include cognitive impairment, polydactyly, renal dysfunction, hypogonadism, and visual impairment. Clinical features of Alstrm syndrome may include progressive visual and auditory impairment, insulin resistance and Type 2 diabetes, hyperlipidemia, progressive kidney dysfunction, cardiomyopathy, and short stature in adulthood. Insatiable hunger, also known as hyperphagia, and severe obesity beginning early in life is common in people living with either BBS or Alstrm syndrome. Rhythm estimates that BBS affects approximately 1,500 to 2,500 people and that Alstrm syndrome affects approximately 500 people in the United States, with a similar prevalence estimate in Europe. Currently, there are no approved therapies targeting the MC4R pathway for reducing body weight and hunger in BBS or Alstrm syndrome.

AboutRhythm Pharmaceuticals Rhythm is a commercial-stage biopharmaceutical company committed to transforming the treatment paradigm for people living with rare genetic diseases of obesity. Rhythms precision medicine, IMCIVREE (setmelanotide), was approved inNovember 2020by theU.S. Food and Drug Administration(FDA) for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency confirmed by genetic testing and in July andSeptember 2021, respectively, by theEuropean Commission(EC) and Great BritainsMedicines & Healthcare Products Regulatory Agency(MHRA) for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE is the first-ever FDA-approved and EC- and MHRA-authorized therapy for patients with these rare genetic diseases of obesity. Rhythm is advancing a broad clinical development program for setmelanotide in other rare genetic diseases of obesity, and is leveraging the Rhythm Engine and the largest known obesity DNA database -- now with approximately 37,500 sequencing samples -- to improve the understanding, diagnosis and care of people living with severe obesity due to certain genetic deficiencies. Rhythms headquarters is inBoston, MA.

IMCIVREE (setmelanotide) Indication In the EU andGreat Britain, IMCIVREE is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE should be prescribed and supervised by a physician with expertise in obesity with underlying genetic etiology.

Inthe United States, IMCIVREE is indicated for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. The condition must be confirmed by genetic testing demonstrating variants in POMC, PCSK1, or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS).

Limitations of Use IMCIVREE is not indicated for the treatment of patients with the following conditions as IMCIVREE would not be expected to be effective:

Obesity due to suspected POMC, PCSK1, or LEPR deficiency with POMC, PCSK1, or LEPR variants classified as benign or likely benign;Other types of obesity not related to POMC, PCSK1 or LEPR deficiency, including obesity associated with other genetic syndromes and general (polygenic) obesity.

Important Safety Information

WARNINGS AND PRECAUTIONS

Disturbance in Sexual Arousal:Sexual adverse reactions may occur in patients treated with IMCIVREE. Spontaneous penile erections in males and sexual adverse reactions in females occurred in clinical studies with IMCIVREE. Instruct patients who have an erection lasting longer than 4 hours to seek emergency medical attention.

Depression and Suicidal Ideation:Some drugs that target the central nervous system, such as IMCIVREE, may cause depression or suicidal ideation. Monitor patients for new onset or worsening of depression. Consider discontinuing IMCIVREE if patients experience suicidal thoughts or behaviors.

Skin Pigmentation and Darkening of Pre-Existing Nevi:IMCIVREE may cause generalized increased skin pigmentation and darkening of pre-existing nevi due to its pharmacologic effect. This effect is reversible upon discontinuation of the drug. Perform a full body skin examination prior to initiation and periodically during treatment with IMCIVREE to monitor pre-existing and new skin pigmentary lesions.

Risk of Serious Adverse Reactions Due to Benzyl Alcohol Preservative in Neonates and Low Birth Weight Infants:IMCIVREE is not approved for use in neonates or infants.

ADVERSE REACTIONS

The most common adverse reactions (incidence 23%) were injection site reactions, skin hyperpigmentation, nausea, headache, diarrhea, abdominal pain, back pain, fatigue, vomiting, depression, upper respiratory tract infection, and spontaneous penile erection.

USE IN SPECIFIC POPULATIONS Discontinue IMCIVREE when pregnancy is recognized unless the benefits of therapy outweigh the potential risks to the fetus.

Treatment with IMCIVREE is not recommended for use while breastfeeding.

To report SUSPECTED ADVERSE REACTIONS, contactRhythm Pharmaceuticalsat +1 (833) 789-6337 or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

See Full Prescribing Information and EU SmPC for IMCIVREE.

Forward-Looking Statements This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding the potential, safety, efficacy, and regulatory and clinical progress of setmelanotide, our expectations surrounding potential regulatory submissions, approvals and timing thereof, our business strategy and plans, including regarding commercialization of setmelanotide, and our participation in upcoming events and presentations. Statements using word such as expect, anticipate, believe, may, will and similar terms are also forward-looking statements. Such statements are subject to numerous risks and uncertainties, including, but not limited to, our ability to enroll patients in clinical trials, the design and outcome of clinical trials, the impact of competition, the ability to achieve or obtain necessary regulatory approvals, risks associated with data analysis and reporting, our liquidity and expenses, the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies, clinical trials and commercialization prospects, and general economic conditions, and the other important factors discussed under the caption Risk Factors in our Quarterly Report on Form 10-Q for the quarterly period endedJune 30, 2021and our other filings with theSecurities and Exchange Commission. Except as required by law, we undertake no obligations to make any revisions to the forward-looking statements contained in this release or to update them to reflect events or circumstances occurring after the date of this release, whether as a result of new information, future developments or otherwise.

Corporate Contact: David Connolly Head of Investor Relations and Corporate Communications Rhythm Pharmaceuticals, Inc. 857-264-4280 dconnolly@rhythmtx.com

Investor Contact: Hannah Deresiewicz Stern Investor Relations, Inc. 212-362-1200 hannah.deresiewicz@sternir.com

Media Contact: Adam Daley Berry & Company Public Relations 212-253-8881 adaley@berrypr.com

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Rhythm Pharmaceuticals Completes Submission of Type II Variation Application to the European ... - Tyler Morning Telegraph

Study Shows the Combination of OGM and NGS with Linked-Reads Detects Significantly More Clinically Relevant Variants Resulting in Higher Success Rates…

SAN DIEGO, Oct. 14, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), developer of the Saphyrsystem that uses optical genome mapping (OGM) for the detection and analysis of structural variants (SVs), today announced the publication of a study in which OGM and next-generation sequencing (NGS) with linked-reads were used together to resolve genetic diseases that were previously unclassified after evaluation by whole-exome sequencing (WES) alone. This study, from the University of California, San Francisco (UCSF) and Childrens Hospital Oakland (now UCSF Benioff Childrens Hospital Oakland) and appearing in the September 23, 2021 peer-reviewed issue of Nature Publishing Journal of Genomic Medicine, shows the benefit of combining OGM with short-read sequencing for improved detection of clinically relevant variants in genetic disease research.

The studys authors, Shieh, et al., describe their Full-Genome Analysis (FGA) approach with automated analysis using NGS linked-read sequencing and OGM to evaluate a full spectrum of genetic variants found in inherited genetic diseases.FGA identified structural variants and small variants with an increase in detection capability of 40%(20 of 50 cases). The number of resolved cases attributable to SVs was notable in the study, as 50% of exome-negative cases (four of eight cases) were solved by identifying an SV or rearrangement. The authors also identified candidate variants in another 60% (18 of 30 cases) for future follow-up.

In one specific case, the authors found a rare 32kb heterozygous de novo intronic duplication within theNHEJ1gene that was not detected by standard microarray analysis because it was small and intronic. It had also escaped detection in copy number variants called from short-read, whole genome sequencing (WGS) data but was easily identified with their FGA method using OGM.

The findings reinforce that the combination of OGM and NGS used in the FGA method detects and localizes SVs such as duplications missed by WGS, and can quickly identify translocations and phase variants across long distances. For individuals with undiagnosed conditions, these two technologies encompass what is currently provided by the combination of chromosome analysis karyotyping, microarray testing and short-read WGS. FGA provides information beyond current assays and results in higher resolution genome maps that can be used for future studies.

As observed in the study, Bionanos Saphyr system, which can detect all classes of SVs, such as insertions, deletions, inversions, duplications, translocations and copy number variations, complemented NGS. Accordingly, when used together, they can provide the clinical research community with the ability to see the entire genome and identify a more comprehensive set of genetic variants to diagnose rare diseases accurately.

Erik Holmlin, PhD, CEO of Bionano Genomics, commented, This studys results go beyond just reinforcing the power of OGM it shows us how we can significantly impact peoples lives by combining NGS and OGM in genome analysis to find answers. Fifty percent of the participants in this study had clinically relevant variants hidden in their genomes that WES alone had not uncovered. OGM, together with a linked-read assay using NGS, revealed key answers for these participants. We believe there is tremendous potential in using OGM together with NGS to understand disease from the very beginning of any study. Congratulations to Dr. Shieh and his team on this tremendous progress.

This publication is available athttps://www.nature.com/articles/s41525-021-00241-5

About Bionano Genomics

Bionano is a genome analysis company providing tools and services based on its Saphyrsystem to scientists and clinicians conducting genetic research and patient testing; it also provides diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a research use only platform for ultra-sensitive and ultra-specific structural variation detection that enables scientists and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools. Bionano offers genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for more than nine years and has performed more than 65,000 tests for those with neurodevelopmental concerns. For more information, visitbionanogenomics.comor lineagen.com.

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the utility of the combination of OGM and NGS, including with respect to enabling the accurate diagnosis of rare diseases, and its potential benefits to the research community. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; observations from studies may not be replicated or have the anticipated benefits once implemented by the clinical research community; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2020 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on managements assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

Media Relations:Michael SullivanSeismic+1 (503) 799-7520michael@teamseismic.com

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Study Shows the Combination of OGM and NGS with Linked-Reads Detects Significantly More Clinically Relevant Variants Resulting in Higher Success Rates...

Americans’ anxiety impacted by the ongoing pandemic, yet 1 in 5 say they won’t seek – EurekAlert

video:A new GeneSight Mental Health Monitor national survey finds many Americans are experiencing anxiety symptoms, but some wont seek treatment. view more

Credit: GeneSight Mental Health Monitor

Many Americans are experiencing anxiety symptoms as a result of the pandemic. Yet, one in five say they wont seek treatment for mental health conditions and others say they wont get help until these symptoms take a toll in their lives.

Nearly half (46%) of all respondents rated their anxiety symptoms as moderate to severe over the past six months, according to the GeneSight Mental Health Monitor from Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in genetic testing and precision medicine.

Of those surveyed who are diagnosed with anxiety, the numbers are even worse 86% rated their anxiety symptoms as moderate to severe over the past six months. While the pandemic is only 18 months old, more than half of those diagnosed with anxiety say they lived with symptoms for years or decades before seeking treatment.

For those who havent sought treatment but are concerned they may be suffering from anxiety, only 36% are planning to seek treatment. When asked what it would take to get help for their anxiety, 47% said a debilitating panic attack. Additional reasons included not being able to leave their homes (34%), sleep issues (31%), an unshakeable feeling of dread (30%) and a negative impact to relationships (30%).

Imagine waiting until you lose your hearing to treat an ear infection. Patients who are experiencing anxiety symptoms shouldnt wait to seek treatment, said Robin Miller, Internist, MD, MHS, owner of Triune Integrative Medicine in Medford, Oregon. If you are afraid to go out, experiencing panic attacks, cant sleep, or your relationships are suffering, you dont have to live like this. You don't have to wait. You don't have to suffer for years. Help is out there and treatment can help.

The impact of COVID on anxiety

Many American adults expressed concern regarding how the pandemic has impacted their mental health:

Mental health conversation is shifting

Of those diagnosed with anxiety, nearly half said they would feel more comfortable talking about their mental health today than they would a year ago.

The pandemic appears to have made people willing to share their mental health struggles, said Mark Pollack, MD, chief medical officer for Mental Health at Myriad Genetics. Talking about mental health challenges is the first step towards getting treatment.

Mental health disorders should be treated

While more people appear to be willing to talk about their mental health, one out of five respondents still say they wont seek treatment. The top reasons for those who would NOT seek treatment for a mental challenge are:

Untreated anxiety can be associated with distressing and disabling panic attacks, intense worry, and disruption to your life, work and relationships, said Dr. Pollack. Like other medical conditions, individuals should seek evaluation and treatment as early as possible, to minimize the distress and dysfunction associated with these conditions.

Anna, a 32-year-old mother who was first diagnosed with anxiety in her early 20s, said that seeking treatment wasnt easy. She went through an extensive trial-and-error period with different medications and dosages.

Medication seems to work fast in my body, so after taking a medication that was supposed to help me, my anxiety would instead get worse I would have suicidal thoughts and be paralyzed with worry, said Anna. My doctor would increase the dosage or change medications, which would lead to horrible side effects.

Anna then took the GeneSight test, which analyzes how a patients genes may affect their outcomes with medications commonly prescribed to treat anxiety, depression, ADHD, and other psychiatric conditions.

After reviewing the results of my test, my psychiatrist reduced the dose by half, and it helped me. I honestly dont know if I would have taken another medication if it hadnt been for genetic testing, said Anna. Im glad I pursued treatment until I found a medication and dosage that worked for me. Now that Im not riddled with crippling anxiety, everything has gotten better. Im a better mom. Im more motivated, more outgoing and friendly.

For more information on how genetic testing can help inform clinicians on treatment of depression, anxiety, ADHD, and other psychiatric conditions, please visit GeneSight.com. To download graphics, a multimedia video and other information regarding the survey, please visit https://bit.ly/2Y4qGri.

About the GeneSight Mental Health Monitor

The GeneSight Mental Health Monitor is a nationwide survey of U.S. adults conducted by ACUPOLL Precision Research, Inc. in Aug.-Sept. 2021 among a statistically representative sample of adults age 21+, including a representative sample diagnosed with anxiety. The margin of error in survey results for the total base population at a 95% confidence interval is +/- 3%.

About the GeneSight Test

The GeneSight Psychotropic test from Myriad Genetics is the category-leading pharmacogenomic test for 61 medications commonly prescribed for depression, anxiety, ADHD, and other psychiatric conditions. The GeneSight test can help inform clinicians about how a patients genes may impact how they metabolize and/or respond to certain psychiatric medications. It has been given to more than 1.5 million patients by tens of thousands of clinicians to provide genetic information that is unique to each patient. The GeneSight test supplements other information considered by a clinician as part of a comprehensive medical assessment. Learn more at GeneSight.com.

About Myriad Genetics

Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and wellbeing for all, empowering individuals with vital genetic insights and enabling healthcare providers to better detect, treat and prevent disease. Myriad discovers and commercializes genetic tests that determine the risk of developing disease, assess the risk of disease progression, and guide treatment decisions across medical specialties where critical genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit the company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, EndoPredict, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries.

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Americans' anxiety impacted by the ongoing pandemic, yet 1 in 5 say they won't seek - EurekAlert

What Can Genetics Tell Us About the Molecular Features of a Bladder Cancer Tumor? – SurvivorNet

Genes are the basic units of inheritance in all living organisms. They provide cells with the necessary information for normal functioning, but they can be altered by the same environmental factors that cause cancer to develop.

Genetic testing helps identify specific genes that have mutated or been altered in a way that causes normal cells to become cancerous. These results are used by healthcare providers to predict responses to various types of treatment and monitor the progress of the disease. Genetic testing can refer to both germline testing (mutations in cells without cancer ) and also somatic testing of a patients tumor (mutations in cells with cancer).

What genetic testing means is understanding in a comprehensive way all the genetic abnormalities that may be present in one patients cancer that may not be present in others.

When examining genetic changes within tumor cells, researchers look for two main things:

These genetic abnormalities are what researchers are beginning to use as biomarkers for predicting patient responses to different forms of treatment.

In some families, bladder cancer occurs at higher rates than in the general population. In these cases, careful examination of the genealogy may reveal specific mutations passed from parent to child that may lead a medical provider to suspect one of the hereditary forms of bladder cancer. Some germline mutations linked to bladder cancer include:

While its possible, inherited gene mutations arent as commonly associated with bladder cancer as they are with other types of cancer, such as breast and ovarian. Sometimes, bladder cancer may occur in families because of toxic chemical or environmental exposures.

There are certain factors that increase an individuals risk for developing bladder cancer even if no family history exists. These include smoking and exposure to specific chemicals over long periods of time.

There are also inherited genetic syndromes that may place an individual at greater risk for developing bladder cancer. These include:

If genetic testing reveals you lack certain genes mutated in bladder cancer, you may be less likely to respond to certain treatments. These include targeted therapies, immunotherapies and chemotherapy drugs.

Genetic testing is not the only factor that determines your response to certain treatments. Even if your bladder cancer has all the genetic mutations that predict response to certain treatments, it still may not respond to them, because genetics is only one factor in determining a treatments effectiveness.

To increase the likelihood of response, bladder cancer treatments need to be combined with interventions designed to help your immune system target and kill cancer cells.

Genetic testing may also inform some decisions you and your medical team make as part of your ongoing care. If you are planning additional treatment after surgery or radiation, genetic testing may help determine the most appropriate treatment to use.

Genetic testing may be beneficial for many people with cancer. However, no guidelines exist to determine who should get genetic testing and the type of testing that should be done.

When I counsel a patient whos now undergoing their first treatment for advanced bladder cancer, Ill often encourage them to undergo genetic testing, mainly because we may find a genetic marker that is present in their cancer that might help me direct them toward a specific clinical trial that involves a drug that is specific for their genetic mutation, explains Dr. Balar.

Dr. Balar also recommends genetic testing for any patient with stage II or greater cancer. I advocate for early testing to have that information available early on so that if its needed, that information is readily available to make treatment decisions.

If youve been diagnosed with bladder cancer, talk to your healthcare team about the benefits and limitations of genetic testing.

Learn more about SurvivorNet's rigorous medical review process.

Lindsay Modglin is a freelance writer. Read More

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What Can Genetics Tell Us About the Molecular Features of a Bladder Cancer Tumor? - SurvivorNet

Genetic Testing Techniques | Lab Tests Online

Everyone has 23 pairs of chromosomes, which include 22 pairs of autosomes and one pair of sex chromosomes. The science that relates to the study of these chromosomes is referred to as cytogenetics. Trained cytogeneticists examine the number, shape, and staining pattern of these structures using special technologies. In this way, they can detect extra chromosomes, missing chromosomes, missing or extra pieces of chromosomes, or rearranged chromosomes.

Chromosome Analysis (Karyotyping)

Karyotyping begins with placing cells on glass slides and separating whole chromosomes from thenucleiof the cells. The slides are stained with special dyes and examined under a microscope. Then, pictures are taken of the chromosomes on the slides, and the picture is cut into pieces, so the chromosome pairs can be arranged and matched. Each chromosome pair is assigned a special number (from 1 to 22, then X and Y) that is based on its staining pattern and size.

Examining a persons whole chromosomes, called karyotyping, can diagnose a wide array of disorders.Down syndrome, in which an individual has an extra chromosome 21, can be determined by karyotyping studies. When there are three chromosomes in one group instead of a pair, it is referred to as a trisomy. Missing chromosomes can also be detected, as in the case ofTurner syndrome, in which a female has only a single X chromosome. When there is only one chromosome instead of a pair, it is referred to as a monosomy.

Sometimes, a piece of a chromosome will break off and attach to another chromosome. When this happens, it is referred to as a translocation or rearrangement. For example,chronic myelogenous leukemia (CML)is a disease caused by a translocation in which a part of chromosome 9 breaks off and attaches itself to chromosome 22 (BCRABL-1 fusion gene). Another example is Burkitt lymphoma, in which a piece of chromosome 8 attaches to chromosome 14. These chromosomal translocations cause disease because the broken piece usually attaches to the new chromosome near a special gene that then becomes activated and helps to produce tumor cells. Translocations can sometimes be seen under the microscope if a special stain is used via karyotyping.

Fluorescence in situ hybridization (FISH)

A special technique commonly called FISH for short can be used to view changes in chromosomes that result from genetic variations. A gene segment in a chromosome can be made to light up or fluoresce when it is bound by a special probe. By using more than one probe at once, cytogeneticists can compare to see if the probes are located in their normal positions or if they have moved to a new location on a different chromosome, or if there are more or fewer copies of a probe than in a normal cell.

Genetic changes in some cancers can be detected using this method. For instance, FISH is one of the methods used to determine increased copy number (amplification) of the gene ERBB2 (also known asHER2) in breast cancer. There are many other applications of FISH technology as well, such as detecting chromosomal deletions, in which a certain part of a chromosome is completely missing. In this case, the chromosome segment will not fluoresce compared to a normal set of chromosomes.

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Genetic Testing Techniques | Lab Tests Online

Top 10 DNA Testing of 2021 | ConsumersAdvocate.org

Helpful information about DNA TestingDNA 101: What Is DNA?

DNA stands for deoxyribonucleic acid, the name of a chemical chain that carries the genetic information of our parents and their parents, and so on. It contains the information needed to build different types of proteins that control different things in the body.

DNA is extremely complex.The rungs on the chemical chainstructured as a double helixare called base pairs, and theres over 3 billion of them across the 23 chromosome pairs in the nucleus of each cell in the human body (for a total of 6 billion over the 46 chromosomes). These base pairs make up about 20,000-25,000 genes, which instruct cells on how to build at least 90,000 proteins throughout all 30 trillion cells in the human body.

A single chromosome, therefore, contains hundreds to thousands of genes. A single gene can have anything from 27,000 to 2 million base pairs.

Chromosomes come in two types of pairs: autosomes, which are identical, as found in chromosomes 1-22), and allosomes, which can be different (as found in the 23rd pair). Allosomes determinethe organisms sex (everyone has one pair of these, either YX for males or XX for females).

DNA that comes from chromosomes is found in the nucleus of every cell, but this isnt the only type of DNA direct-to-consumer companies can use to identify ancestry. The mitochondria in cells also carry DNA. Unlike most nuclear DNA, mtDNA is passed practically unchanged from mother to child.

A common misconception is that DNA is like a blueprint for a human body. Instead, DNA chains are a coded list that instructs cells on how to build proteins. One of our interviewees, Professor Simon Fisher from the Max Planck Institutes Department Language and Genetics, sent us this handy explanation.

The human genomethe complete set of nuclear DNAis 99.9 percent identical for all humans. Its the 0.1 percentthat contains enough differences to make us into unique individuals. Understanding how information is passed on through genes, how genes instruct proteins, and how proteins translate into specific processes in the human body, can help us know ourselves better.

Scientists have identified that certain proteins are linked to specific conditions, diseases, or health risks. Certain proteins, for example, are responsible for the production of thehormone insulin. Mutations, changes, and variations in the genes that instruct cells to build this protein can cause a variety of disorders.

Different direct-to-consumer DNA companies have developed algorithms based on these variations. None of them analyze a persons entire, complex genome. Instead, they focus on markers or locations on the gene code that have been associated with certain populations or conditions.

Most commercial DNA kits offer two kinds of tests: ancestry and health.

Analyzing DNA is not as easy as reading a history book. Its not even as easy as reading science-heavy articles about the chemical composition of DNA.

In order to determine a persons ancestry, companies offer different types of tests:

Autosomal tests: these tests focus on autosomes 1-22 plus the X chromosome.

Y-DNA tests: these tests focus on the Y chromosome (if male), which is used to trace patrilineal ancestors because its passed practically unchanged from fathers to sons.

mtDNA tests: these tests focus on mitochondrial DNA, which is used to trace matrilineal ancestors because its passed practically unchanged from mothers to their children.

The autosomal DNA passed on by our parents is a mix of their DNA, and their parents DNA, and so on. The amount of ancestors doubles with each previous generation. That means DNA from only the last two hundred years can already be a mixture of 510 people (less if ancestors appear multiple times in a family tree).

Most ancestry testing, however, compares specific DNA markers (alleles) against those of existing, contemporary populations determined to have remained, historically, in the same place for a long time (each companys reference panel). A company like Ancestry, for instance, uses algorithms to find which ethnicity assignments return the highest probability matches.

This statistical matching, however, is limited by the natural genetic mixing that has historically occurred throughout many populations. Europeans, for example, are historically comprised of mixtures of populations from the region now known as Turkey, the ancient Roman Empire, and Northern Africa. Within the last 2,000 years, Britain alone has experienced immigration and genetic mixing from the Romans, various Germanic tribes, and the Middle East.

In a 2015 article, Jonathan Kahn, a law professor at Northeastern University who has written extensively on genomics and race, writesThe estimates provided by diverse commercial enterprises [...] are premised on a notion of static populations that have not migrated or mixed over time. [...But] the idea that there are somehow pure types of African, European, or Asian DNA is a ction [...]

This article in the American Journal of Human Genetics echoes that--[O]nly a small fraction of ancestors are represented by each given genomic segment in an individual, [...] so one can only ever have limited information on the origins of a given individual's ancestors. This is why some experts, like Professor Troy Duster from UC Berkeley, question the usage of admixture percentages, "Heres the problem in a nutshell. In order to have something called 'percent admixture'percent white, percent black, percent whatever, percent Italian, percent Jewishyoud have to have something called one hundred percent.

Direct-to-home DNA testing companies often use the term ethnicity when providing reports and statistical probability breakdowns for ancestry, health, and traits. Their usage of the term, however, varies, and it is often left undefined. AncestryDNAs White Paper, for example, does not define ethnicity in its glossary, but in its usage throughout, the term is synonymous with regions, populations, or even nationalities.

However, some have questioned the wisdom and utility of the term ethnicitya socially constructed concept based on self-identificationwhen discussing a biological component, DNA, especially in health contexts. Part of the difficulty arises from the often-contradictory nature of available definitions and its overlap with other socially-constructed and controversial terms like race.

This is further complicated by the facts that 1. there are no clear-cut ethnicities because most populations in the world are mixed to some degree, 2. socially constructed concepts like ethnicity and race have, historically, resulted in bias and discrimination, and 3. an overlap between modern ethnicity labels might not correspond to historical population names or locations.

DNA can certainly reveal a lot of information about where our genes come from. However, its important to understand that companies are only providing estimates based on DNA similarities to other contemporary populations. When an ancestry report says a person is 2% Scandinavian, it does not mean a specific, unique chunk of their DNA can come only from Scandinavia. Instead, what this percentage means is that certain portions of their genes have been statistically similar to those from contemporary Scandinavian populations.

This is why an individual can take multiple DNA tests from different companies or multiple tests with the same company, and get different results, and why identical twins have also been documented as having received slightly different reports.

The size of the databases also has to be taken into account. As Scientific American explains, several companies use both preexisting datasets as well as some reference populations that they have recruited themselves. ScienceNews.org cites anthropological geneticist Deborah Bolnick, saying, Who the companies say you aredependsin large parton those reference populations, Bolnick says. For instance, you may carry a pattern of SNPs found in people in both southern France and in Italy. If, by chance, the French people a company sampled had that SNP pattern but none of the Italians in the companys database did, they may infer that you have French ancestors and not Italian because of who they do and do not have in their database.

The Genetic Resource Center for the National Congress of American Indians explains the limitations of making probability estimates based on database comparison and the problem of using this to identify certain ethnic groups. [T]hese results are limited by the information in current databases, many of which do not contain a lot of information for particular groups (AI/ANs among them). This limitation in the data can produce problems for tribes and individuals seeking information as results may not be accurate or even possible to generate given limited availability of comparative data.

Companies like HomeDNA and African Ancestry are currently trying to address some of these limitations for African and Asian populations. As ScienceNews.org comments, some groups, including aboriginal populations in Australia and big parts of Africa and Asia, are mostly absent from companies databases.

Y-DNA and mtDNA are currently the most authentic and useful tests for ancestry, according to Dr. Troy Duster, professor of sociology at UC Berkeley. They are, as he told us, definitive and replicable. However, research suggests that lineage-based genetic estimates [...] reflect only a fraction of any person's total genetic ancestry.

Y-DNA tests can only trace one patrilineal ancestor at each generation because only one ancestor (a father) passed the Y chromosome to the next (his son). That means that, increasingly, at each further past generation, an individual has more and more ancestors that contributed to their genetic makeup, but which can't be reliably identified by tracing their genes.

Mitochondrial DNA tests are similarly limited; only the mothers mothers mothers mothers (etc.) mitochondrial DNA was passed on, meaning only one line can be traced. The paternal grandmothers line for any individual cannot be traced.

Like with ancestry testing, interpreting DNA in order to understand an individuals health risks, is a complicated business. Amy Sturm, president of the National Society of Genetic Counselors, explained how genetic analysis takes place."There is a reference for the normal human DNA code and, based on research that has been done looking at people with certain traits or conditions or diseases, we know that there are certain genes, that if they have a change in them a genetic variant that it would be associated with a certain trait or condition or disease. And so, with the DNA being analyzed in the laboratory, the scientists are looking for changes in the normal DNA code that they know is associated with a trait or condition."

She warns, however, that its usually not a simple 1-1 correlation because there are other genetic factors and environmental factors that likely play a role in that complexity, and we dont have all of those even have those figured out yet. Thus, whether a person takes a direct-to-consumer DNA test or a full test with a genetic counselor, its important they understand that it is more of a risk conversation.

The American Journal of Human Genetics highlights that the scientific claims of companies that choose not to disclose the contents of their proprietary databases cannot be assessed; therefore, the reliability of the information they provide to consumers cannot be verified. This is problematic because, as professor Duster told us in our interview, replicability is the key element in scientific study. However, some direct-to-consumer DNA testing companies are not opening this up to investigation by other scientists saying ok, you can come in and look at our data and see if you can do a replication study.

Ruth Saunders, a law graduate from Queen Mary University of London, echoes Dusters concerns in her 2010 article on the legal implications of DTC genetic testing and the lack of regulatory agencies enforcing scientific validity:The lack of regulation governing the quality of the genetic testing services is a serious concern because a genetic test is only useful to health when its analytical and clinical validity and clinical utility is assured.

Moreover, consumers should be aware that false-positive results can and do occur.

Commercial DNA testing companies often promote themselves through commercials that feature customers with uplifting stories and extremely happy results. Unexpected positive results are certainly one of the biggest draws of this industry, but its important to remember that they are not necessarily the norm.

One common thread across all of our interviewees was that it took a while for the interesting results to come up.

[At first], we just had the estimate genetics. And it was just like that for a while. And every once in a while, somebody would pop up, and it was a cousin that everybody knew, said Erin Dull, who found her half-sister through AncestryDNA.

Adam Lind, one of our employees, similarly described his own experience with AncestryDNA:

I got my results back at the beginning of March 2018. And at first, I was like, 0 for 1 there was no Native American, which is what I wanted to know. But there was a lot of UK DNA, like Irish and I didnt know that the Irish, specifically but there was English, Scottish, and some Western European. And I knew that I had a grandfather from Belgium. So, everything seemed copacetic.

Amy Sturm, president of the NSGC, gave us the following advice regarding managing expectations:

"There are many things people need to think about. You might learn something that youre not prepared to learn. You need to be prepared for this going in. You need to think through for yourself Am I the type of person that would prefer ignorance is bliss? Do I really not want to have family secrets unraveled or unveiled to me? And if so, you might not want to take one of these tests. It depends on the person. Its just something you really have to think about before you spit in that tube."

We spoke to three people who discovered that they had a half-sister, that their father was not their biological father, and that they were at risk of developing breast cancer. These are life-altering scenarios. That said, all three of our interviewees were happy to be aware of these truths about their DNA.

Erin Dull, who discovered her half-sister through AncestryDNA, told us: My life changed. Its the best thing that ever happened to me. Meeting my niece and nephew and having a sister is the greatest thing that ever happened to me.

Similarly, our colleague Adam describes his experience of finding his biological father positively: Hes as excited to know me as I am him. Theres this feeling of make up for the lost time. Im absolutely elated.

Our colleague Sara Altchule, who tested positive for the BRCA 2 gene mutation associated with breast cancer, said to us that, although it was a traumatic experience, she considered it to be the best decision I could have ever made. She documented her experience over several blog posts here.

Although we interviewed three people who experienced amazing or life-changing results, ranging from discovering close family members to a high predisposition towards conditions, this is not necessarily the common outcome. For example, another one of our employees who used 23&Me also commented that hed yet to receive any surprising or unexpected results despite having used the service several months ago.

Two common thread we found through our interviews were either the dont open that can of worms warning, or the if the connection is beyond 1st counsin, Im not interested admission. For example, Erin, one of our interviewees, told us of a friend who had used Ancestry to find her dad. Although he was glad to connect with her, some in the extended family were not, essentially saying we dont know you; youre not a part of this family; we dont want to talk about it.

Theres only one member of the family whos interested; the rest dont even want to talk about it. [One even warned] not to open that can of worms.

This warning is often associated with the potential discovery of family secrets or information that can create an "epistemological crisis,"as professor Duster put it. Not all biological parents want to be found, explores this article on the identity impact these tests can have and many are wary of. Indeed, Ancestrys support center has threads on managing surprising family members and regretting using the service.

On the other hand, some matched family might not want to reply or form a relationship because the connection is vague to them. Adam described his own experience:

The only reason I reached out was because it said father. I think, anything above 'first cousin,' and I would eventually reach out, but other than that, Im not interested. Like, someone who has an ancestor that neither of us has ever met? Im not interested. If someone reached out to me, I would email them back, but I had no interest in reaching out to anybody.

Personal identity is a complex concept influenced by many different factors. But concerns have been raised by experts in bioethics, sociology, anthropology, and genetics about the marketing claims of some DNA testing companies. Some ads for testing companies reinforce the link between DNA and identity, writes ScienceNews.org. For example, AncestryDNAs main page claims You could be Irish; 23&Me promises theyll help customers discover what makes you, you; MyHeritage boasts you can discover where you really come from.

Hina Walajahi, from the National Institute of Health, warns:

While this hyperbolic 'it-will-change-your-life' marketing strategy is not unique to DTC genetic ancestry companies, it is distinct in the way it draws upon public faith in science and scientific authority to validate a causal relationship between genetic ancestry and personal identity.

Prof. Duster explores the powerful draw of these claims:

People have a thirst to believe; theres a real desire to know ones ancestry. For example, because of the history of slavery and because their history was erased, many African Americans in particular have a strong interest in tracing their ancestry back to Africa, in ways people from Europe dont quite have that because they had grandmothers and grandfathers to tell tales about what percent ancestry there is and so on."

But some people are anxious and thirsty for this kind of information, so theyre inclined to believe it as true because thats what they want to believe. This can lead to epistemological crises about who they are.

These crises are not uncommon, as this testimony demonstrates. However, some, like Prof. Duster, challenge placing nature (DNA) above nurture, arguing that:

This notion that, somehow, the DNA that you discover your 'real' biological mother or father is who you really are is an extraordinary leap away from the idea that you are, in part, the social networks that brought you up and that are around you.

Our CEO, Greg Powel, puts it best:

"I think the notion of your self-conception evolves over the course of your life. Youre shaped by a combination of your experiences and the people around you and your genetic make-up and who you are. I think thats who we are as people."

As Amy Sturm from the National Society of Genetic Counselors wisely told us: DNA is not destiny.

Most major direct-to-consumer DNA testing companies have clauses in their Privacy Terms intended to assure customers that their genetic data will not be shared or sold without their consent. In an effort to ensure this, these companies anonymize customers DNA samples, removing identifiable information like name and address when the sample is sent to the lab.

However, experts warn that genomic data is highly distinguishable, and that even a sequence of 30 to 80 SNPs [single-nucleotide polymorphisms, a.k.a. markers or variations] could uniquely identify an individual. In other words, anonymized genetic data can be re-identified:

"[A]s demonstrated by multiple recent studies, the risk of re-identification is strongly present. It was shown, in multiple independent studies, that it is possible to learn the identities of people who participate in research studies by matching their data with publicly available data. Fida K. Dankar, et al. in Human Genomics."

In addition, many DNA matching services are unavailable or limited if consumers do not willingly give up some of their privacy. For example, Ancestrys DNA Matches reminds customers that if you choose not to see your DNA matches or be listed as a match, some of the features included in your Ancestry subscription may not be available.

Privacy and data security concerns have been raised by other consumers, the media, politicians, and experts. These range from genetic data being sold or shared with pharmacological companies for the development of pharmaceuticals, to the potential risks of health or life insurance companies obtaining consumers genetic information and using it to raise their premiums or deny them services. This is because genetic data provides sensitive information about genetic conditions and predispositions to certain diseases such as cancer, Alzheimer's, and schizophrenia.

In her article Privacy of Information and DNA Testing Kits,Shanna Mason points that that submitting to genetic tests are not only exposing themselves to the risk of their genetic information getting into the wrong hands, but are also exposing information about shared familial risk. Masons article explores topics like genetic discrimination, and where the HIPAA and GINA privacy laws come into play.

Nonetheless, consumers are responsible for keeping up-to-date with how privacy terms and conditions are changed or modified over time, and continuing to use the services is treated as acceptance of these changes.

Screenshot from 23andme.com's Terms of Service. August 20, 2019.

Screenshot from 23andme.com's Terms of Service. August 20, 2019.

Additional concerns have also been raised concerning several aspects of law enforcement, including, but not limited to, the use of DNA databases to potentially racially profile suspects, the use of DNA databases in forensics, laws that allow police and federal officials to retain DNA samples even from non-charged suspects or acquitted individuals, and the general wide misunderstanding in legal situations of the limits of genomics.

Consumers also should be aware that DNA companies are legally obligated to submit data and documentation if faced with a warrant or subpoena. Moreover, some companies are openly working in tandemwith law enforcement institutions, and there arent any regulations to stop it.

Many direct-to-consumer DNA kits have expiry dates because of the stabilizing solution they contain. This solution or buffer is what prevents bacterial contamination during the shipping process.

Expiry dates are different for different companies, be it because theyre being overly cautious, or because their kits have longer lifespans than others. Of the ones we used with our DNA volunteers, only AncestryDNA did not have a clear expiry date on the kit itself. Those that did had very different dates, even though we requested them all at the same time:

We recommend that customers mail in their DNA samples at least within a year of receiving their kits in the mail.

Read more:
Top 10 DNA Testing of 2021 | ConsumersAdvocate.org

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