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Genetic Testing | HealthyWomen

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What Is It?Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. A genetic test is fundamentally different from other kinds of diagnostic tests you might take. Indeed, a whole new field, genetic counseling, has grown up around the need to help incorporate family history and genetic testing into modern health care.

The purposes of genetic tests vary. Some genetic tests are used to confirm a preliminary diagnosis based on symptoms. But others measure your risk of developing a disease, even if you are healthy now (presymptomatic testing), or determine whether you and your partner are at risk of having a child with a genetic disorder (carrier screening).

As the name suggests, a genetic test looks at your genes, which consist of DNA (deoxyribonucleic acid). DNA is a chemical message to produce a protein, which has a specific function in the body. Proteins are essential to lifethey serve as building blocks for cells and tissues; they produce energy and act as messengers to make your body function. In addition to studying genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant gene function.

What do Genetic Tests Test For?

Chromosome AbnormalitiesLong strings of DNA condense together, packaging the DNA in the form of a chromosome. Most people have 23 pairs of chromosomes in the nucleus of each cell. One of each chromosome pair is inherited from the mother and the other is inherited from the father. Some tests look at chromosomes for abnormalities such as extra, missing or transposed chromosomal material. The chromosomes hold 20,000 to 25,000 genes, meaning that each chromosome is densely packed with genes. Extra or missing pieces of chromosomes can have a significant impact on the health of an individual. Also, sometimes pieces of chromosomes become switched, or transposed, so that a gene ends up in a location where it is permanently and inappropriately turned on or off. The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies.

If something goes wrong with an essential protein, the consequences can be severe. For example, a protein called alpha-1 antitrypsin (AAT) clears the lungs of a caustic agent called neutrophil elastase. If the body has an alteration in the gene that makes the protein AAT, the AAT protein may not be made correctly or at all. Then neutrophil elastase will build up in the lungs, and the individual can develop emphysema and other complications.

MutationsMost genetic conditions are the result of mutations in the DNA, which alter the instructions for making a given protein. Some mutations are inherited on genes passed down from parents, while others occur during an individual’s lifetime. These mutations can lead to diseases ranging from those we think of as “genetic diseases,” such as cystic fibrosis or AAT deficiency, to those we think of as degenerative diseases, such as heart disease. In the case of diseases like heart disease, asthma or diabetes, a combination of factorssome genetic, some related to environmental or lifestylemay work together to trigger the disease.

It’s possible to have a mutation, even one for a severe disease, such as cystic fibrosis (CF) and never know it. Almost all humans have two copies of each chromosome and therefore have two copies of each gene, one inherited from the mother and the other from the father. If only one copy of a given gene has a mutation, you are a healthy carrier of the disorder. You “carry” the mutation but do not have the disease. If both copies of a gene have a mutation, you will have the disease. Such disorders are called autosomal recessive. If you are a carrier, the unaltered gene in the pair retains the function. Those who are diagnosed with a recessive disease have inherited two copies of a gene, both carrying a mutation. Therefore, since one of those copies came from the mother and the other from the father, both parents must have at least one copy of the gene with a mutation. If two carriers of the same disease-causing gene have children, each pregnancy has a 25 percent chance of having the disease (because of a 25 percent chance of inheriting both the mother’s and the father’s mutated copies of the gene), a 50 percent chance of being a carrier and a 25 percent chance of not inheriting the mutation at all.

Some disorders, such as Huntington disease, are autosomal dominant. If a person has one mutated gene, its effects will cause the disease, even if the matching gene is normal. Thus, each child of a parent with Huntington disease has a 50 percent chance of inheriting the gene causing the disease. Osteogenesis imperfecta, which causes brittle bones, is another example of a dominant disorder.

Chromosomes can be one of two types: sex chromosomes or autosomes. Sex chromosomes are X and Y. Most men have an X and a Y, and most women have two Xs. If each parent contributes an X chromosome, the child is a girl; if the father passes on his Y chromosome, the child is a boy. Because girls have two X chromosomes, and therefore two copies of every X-linked gene, they are less likely than boys to have symptoms from X-linked genetic diseases because boys don’t have a backup copy if an X-chromosome gene has a mutation. Examples of X-linked diseases include forms of hemophilia and fragile X syndrome (the most common inherited cause of mental impairment). Autosomes are the remaining 22 pairs of chromosomes. Therefore, most diseases are autosomal, or due to genes on the autosomes.

What Genetic Tests Can Find

Unclear Results Although genetic testing can be very useful in diagnosis, prevention and medical decision-making, genetic tests do not always provide clear answers. One such result is a “variant of uncertain significance.” All people have differences in their DNA, so if a new DNA alteration is detected, it may be uncertain as to whether it is associated with disease or is part of normal human variation. Another limitation is that not all genetic tests are created as equals. Since genetic testing can be very expensive, some tests only look for the most common disease-causing mutations. Instead of examining the entire gene, these tests only look for specific, common mutations. If you or your family has a mutation in a portion of the gene that wasn’t tested, you will have a negative result, even though you do have a disease-associated mutation. Since genetic tests are not perfect, it is always important that genetic test results be interpreted in combination with medical and family history by a genetic counselor or other genetics-credentialed professional.

The Cost of Genetic Testing

The cost of a genetic test varies dramatically, ranging from $100 to more than $3,200. The difference stems largely from the variation in labor intensity of different tests. Some tests look for a limited number of mutations (sometimes only one) known to cause a disease. This type of test may only look at one piece of DNA code, for one specific mutation. Other genetic tests require sequencing of the entire gene, where they examine each piece of DNA code comprising the gene, which can be thousands of pieces of code.

The explosion of genetic research now taking place is expected to bring prices down and dramatically increase the number of tests available. Tests are becoming available to predict your genetic risk of more common disease, such as heart disease and diabetes. This information will help you and your health care professional develop specific strategies for prevention. Preventive efforts can include changing your lifestyle or perhaps taking certain medications, which may be tailored to your specific genetic profile, and early screening to head off the worst complications should you develop the disease.

Facts to Know

A genetic test examines some aspect of a person’s genetic makeup, either directly through gene sequencing or indirectly through the measure of marker chemicals. Such a test usually aims to determine whether a person has, is at above-average risk of having or is a carrier of a disease-causing genetic mutation.

Because the nature of genetic testing is so complex, with implications for both the person being tested and his or her family, genetic counseling is desirable before taking any genetic test and essential for proper interpretation of test results.

Genetic counselors are committed to protecting your privacy. They will not contact other family members without your permission, though they may encourage you to share results that might affect your relatives.

A maternal serum screening test indicates whether a fetus is at above-average risk of being born with certain genetic disorders, most notably Down syndrome, trisomy 18 and open neural tube defects. The test is not diagnostic and a positive result is usually followed up with a diagnostic amniocentesis or chorionic villus sampling test. Out of 1,000 serum screening tests, 50 will suggest increased risk for open neural tube defects, but only one or two of the fetuses will have such a defect. Likewise 40 of 1,000 will test positive for increased risk of Down syndrome, but only one or two will fetuses will actually have the disease.

Some genetic disorders are recessive and X-linked, which means they are caused by a mutation in a gene that resides on the X chromosome. Females have two X chromosomes, but males have only one. If a mother has a disease-linked recessive gene mutation in one of her X chromosomes, she is a carrier of the disorder but will have no or minimal symptoms herself. If she has a son, he will have a 50 percent risk of inheriting the disorder; a daughter will have a 50 percent chance of being a carrier.

In addition to disorders that have surfaced in your family, you may want to consider carrier testing for genetic conditions that occur with greater frequency in your particular ethnic group. For example, Caucasians have a higher risk of cystic fibrosis, while those of African descent are at high risk of carrying a mutation that can cause sickle cell disease. A battery of tests exists for those of Ashkenazi (Eastern European) Jewish descent. Remember that the best time for carrier testing is before a pregnancy.

Children should not be screened for carrier status or for diseases that won’t trouble them until much later in life because the information is not relevant to their health care. Most geneticists and genetic counselors consider such testing unethical, since children are not in the position to make their own decisions as to whether or not they want the test (known as informed consent).

Within a family, two or more incidences of the same type of cancer or related cancers, or one at under age 50 may indicate a hereditary pattern. A genetic counselor can take a closer look at your family history to determine whether an inherited mutation appears to be responsible for the cancers in your family and can advise you as to whether testing is available.

The best-known cancer predisposition tests look for mutations in the BRCA1 and BRCA2 genes. Women with a BRCA mutation face a lifetime breast cancer risk of up to 88 percent, compared to about 13 percent in the general population, and lifetime ovarian cancer risk of up to 60 percent, compared to a population risk of about 1.4 percent.

If your family has a history of colorectal and related cancers, you may want to consider genetic counseling and risk assessment. Several colorectal cancer syndromes can be responsible for hereditary cancer risk. One such syndrome is Lynch Syndrome. The syndrome increases lifetime risk of colorectal cancer to 80 percent vs. a 5.4 percent population risk, but also boosts risk of endometrial cancer (to 60 percent), ovarian cancer (to 12 percent) and gastric cancer (to 13 percent). Those with Lynch Syndrome also face a higher risk of cancers of the kidney and ureter, brain and small bowel.

Questions to Ask

Review the following Questions to Ask about genetic testing so you’re prepared to discuss this important health issue with your health care professional.


Could my symptoms be caused by a genetic disorder? Is testing available?

Are you experienced in diagnosing and treating genetic disorders? If not can you make a referral?

How accurate is this test?

What are the risks of the test?

What information will come out of the test?

What will a positive or negative result tell me?

Is an uncertain result possible, and what would that mean?

What are my options for preventing or treating the disease if a mutation is found?

What other family members might be affected?

How do I broach the subject with them?

Could this disorder affect my children before they’re grown? Should they be tested?

What measures are in place to protect my privacy?

How often have you performed the test?

How experienced is the lab in performing this test?

How long will it take to get results back?

How could this test affect my health care?

Cancer Predisposition Testing

Does my family history suggest a pattern of inherited cancer?

Is there a test available to determine which family members are most at risk?

What are my chances of developing cancer if I test positive for a mutation?

How does my risk change with age?

What are my options if I test positive?

How frequently should I have screenings?

Are preventive measures such as surgery or pharmaceuticals available?

Carrier Screening And Preconception Counseling

Based on family history and ethnicity, which carrier tests should my partner and I consider?

What criteria are you using to determine which tests are right for us?

Would other centers recommend a different lineup of tests?

What are the options if a result suggests the possibility of having a child with a genetic disorder?

Prenatal Testing

How early or late in my pregnancy can this test be performed?

What are the risks of the test?

Is this a risk screening test or a diagnostic test?

What are the options if the test finds a problem?

Key Q&A

What is genetic testing?

A genetic test looks at a particular aspect of your genetic makeup, either directly through gene sequencing or indirectly through measure of marker chemicals. Testing may be done for a variety of purposes:

Diagnosis, to determine if a person has a genetic disorder (often performed in conjunction with analysis of symptoms)

Risk screening, to determine if a person is at increased risk of having a genetic disorder (with follow-up diagnostics usually called for if a test is positive)

Predisposition testing, to determine if a person is at higher risk of developing a particular disease later in life

Carrier testing, to determine if a person is a carrier of a disease-causing mutation and may be at risk of having a child with the disease

What does it mean if I’m a carrier for a disease?

Genes come in pairs, and a carrier of a recessive disease has one mutated, disease-causing gene and a corresponding normal gene. The normal gene compensates for the mutated copy and the person never develops the disease. If two carriers of the same disease-causing gene have a child, however, that child has a 25 percent chance of having the disease (because of a 25 percent chance of inheriting two mutated copies of the gene), a 50 percent chance of being a carrier and a 25 percent chance of not inheriting the mutation at all.

If my partner and I have carrier testing, will the results tell us whether or not our children will be affected?

In most cases, the test will provide only guidance as to your child’s risk for being born with a particular disorder or being a carrier of the disease. Because you contribute only one of the two copies you have of each gene, each child has a 50 percent chance of inheriting any particular mutation from you. Each child likewise has a 50 percent chance of inheriting any particular mutation your partner has. Thus, if you are both carriers of the same autosomal recessive disorder, each child has a 25 percent risk of being born with the disease, a 50 percent risk of being a carrier and a 25 percent chance of not inheriting a mutation at all. A genetic counselor can help you sort through the possible combinations in your situation and describe options for pregnancy planning and prenatal testing.

Why do I need a genetic counselor in addition to my doctor?

Most counselors and geneticists have extensive training and certification specifically related to genetics and genetic testing. Additionally, most physicians do not have time to spend an hour or more providing education, information collection, risk assessment and informed consent. Hence, many physicians make referrals when the issue arises. Genetic counselors usually work with geneticists (MDs or PhDs), particularly for more complex cases.

If I have a test, will I face job or insurance discrimination if the result is positive?

The Genetic Information Nondiscrimination Act of 2008 (GINA), a new federal law that protects Americans from being treated unfairly because of genetic diseases and mutations that may affect their health, was recently passed. This law specifically addresses protections in regard to health insurance and the workplace.

Why are some genetic tests so much more expensive than others?

Some tests look for mutations by actually sequencing the entire gene; these tests, which may cost more than $3,000, look for mutations by determining the exact order of the chemicals that comprise the gene and compare the order to that of a normal gene. Other, less expensive tests look for individual, commonly known disease-causing mutations. It’s like going to a grocery store. If you have never been to that store before and you are looking for a bottle of ketchup, you may go through every aisle. This is the equivalent of sequencing; looking through the entire gene for the mutation. If you have been there before and know where the ketchup is, you can go directly to the location in the store, which is like specific point mutation testingyou know exactly where the mutation is located.

A relative has canceram I at risk, too?

Your family history provides the best clues. Two or more relatives with early onset (before age 50 or 60, depending on the cancer) of related cancers or diagnosis of two or more related cancers in the same person suggest the possibility of a genetic link that could put you at risk. Related cancers are not always as obvious as you might think. For example, colon cancer and endometrial cancer can be caused by the same genetic mutation. Talk to a genetic counselor to get a better idea of your risk and find out whether predisposition testing is available.

Isn’t my health my own business? Why should my extended family be involved?

By their very nature, genetic diseases are a family affair, with mutations passed on to multiple generations. When a disease is clearly hereditary, testing positive for a disease-causing mutation or being diagnosed with the disease provides knowledge that other family members may be at risk. A genetic counselor can help you identify who may be at risk and should be notified and can help you handle the situation if there is estrangement between relatives.

What’s the difference between amniocentesis and chorionic villus sampling? How do I decide which is right for me?

Both procedures provide for diagnosis of specific chromosomal and genetic disorders in the fetus. Amniocentesis is more likely to be offered as a follow-up to an abnormal maternal serum screening test because results of the screen are obtained too late in pregnancy for CVS. However, CVS, which is done at 10 to 12 weeks gestation, or amniocentesis, are offered in the following situations:

You will be 35 or older at delivery.

A genetic disorder has surfaced on either side of the family.

You or your partner has had a previous child with a birth defect.

You and your partner are carriers of the same recessive disorder.

Both chorionic villus sampling (CVS) and amniocentesis can cause cramping, and a small number of women have miscarriages following the procedures (the risk is higher with CVS). It takes one to two weeks to get results from either test.

Amniocentesis is performed more frequently and should be the choice if you’re at risk having a child with neural tube defects. The procedure is performed at 15 to 18 weeks of pregnancy.

CVS can be performed earlier, at 10 to 12 weeks, and is popular with parents who would like to know results before the pregnancy starts to show. The procedure is not available everywhere, however.

If I get a negative result from a cancer predisposition test, can I still develop that particular kind cancer?

Yes. Your lifetime risk for breast cancer, even in the absence of a gene mutation, is about 12 percent. At least 90 percent of breast cancer is not due to a single, inherited cancer predisposition gene. A negative BRCA test result simply means you don’t face a higher-than-average risk for the disease due to a hereditary cancer syndrome.

Genetic Counseling

What Is Genetic Counseling?

Because the nature of genetic testing is so complex, with implications for both the person being tested and his or her family, genetic counseling is an important part of pre- and post-genetic testing. Unlike most medical appointments, a counseling session may be a family affair, with participation of all concerned relatives.

Read more:
Genetic Testing | HealthyWomen

Prenatal Genetic Screening Tests – ACOG


Prenatal genetic testing gives parents-to-be information about whether their fetus has certain genetic disorders.

Genetic disorders are caused by changes in a persons genes or chromosomes. Aneuploidy is a condition in which there are missing or extra chromosomes. In a trisomy, there is an extra chromosome. In a monosomy, a chromosome is missing. Inherited disorders are caused by changes in genes called mutations. Inherited disorders include sickle cell disease,cystic fibrosis, TaySachs disease, and many others. In most cases, both parents must carry the same gene to have an affected child.

There are two general types of prenatal tests for genetic disorders:

Both screening and diagnostic testing are offered to all pregnant women.

Screening tests can tell you your risk of having a baby with certain disorders. They include carrier screening and prenatal genetic screening tests:

First-trimester screening includes a test of the pregnant womans blood and an ultrasound exam. Both tests usually are performed together and are done between 10 weeks and 13 weeks of pregnancy:

Second-trimester screening includes the following tests:

The results from first- and second-trimester tests can be combined in various ways. Combined test results are more accurate than a single test result. If you choose combined screening, keep in mind that final results often are not available until the second trimester.

Cell-free DNA is the small amount of DNA that is released from the placenta into a pregnant womans bloodstream. The cell-free DNA in a sample of a womans blood can be screened for Down syndrome, trisomy 13, trisomy 18, and problems with the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy. It takes about 1 week to get the results. A positive cell-free DNA test result should be followed by a diagnostic test with amniocentesis or CVS.

The cell-free DNA screening test works best for women who already have an increased risk of having a baby with a chromosome disorder. For a woman at low risk of having a baby with a chromosome disorder, conventional screening remains the most appropriate choice. Cell-free DNA testing is not recommended for a woman carrying more than one fetus.

Results of blood screening tests for aneuploidy are reported as the level of risk that the disorder might be present:

Diagnostic testing with CVS or amniocentesis that gives a more definite result is an option for all pregnant women. Your obstetrician or other health care professional, such as a genetic counselor, will discuss what your screening test results mean and help you decide the next steps.

With any type of testing, there is a possibility of false-positive results and false-negative results. A screening test result that shows there is a problem when one does not exist is called a false-positive result. A screening test result that shows there is not a problem when one does exist is called a false-negative result. Your health care professional can give you information about the rates of false-positive and false-negative results for each test.

It is your choice whether to have prenatal testing. Your personal beliefs and values are important factors in the decision about prenatal testing.

It can be helpful to think about how you would use the results of prenatal screening tests in your pregnancy care. Remember that a positive screening test tells you only that you are at higher risk of having a baby with Down syndrome or another aneuploidy. A diagnostic test should be done if you want to know a more certain result. Some parents want to know beforehand that their baby will be born with a genetic disorder. This knowledge gives parents time to learn about the disorder and plan for the medical care that the child may need. Some parents may decide to end the pregnancy in certain situations.

Other parents do not want to know this information before the child is born. In this case, you may decide not to have follow-up diagnostic testing if a screening test result is positive. Or you may decide not to have any testing at all. There is no right or wrong answer.

Amniocentesis: A procedure in which a needle is used to withdraw and test a small amount of amniotic fluid and cells from the sac surrounding the fetus.

Aneuploidy: Having an abnormal number of chromosomes.

Carrier Screening: A test done on a person without signs or symptoms to find out whether he or she carries a gene for a genetic disorder.

Cell: The smallest unit of a structure in the body; the building blocks for all parts of the body.

Chorionic Villus Sampling (CVS): A procedure in which a small sample of cells is taken from the placenta and tested.

Chromosomes: Structures that are located inside each cell in the body and contain the genes that determine a persons physical makeup.

Cystic Fibrosis: An inherited disorder that causes problems in digestion and breathing.

Diagnostic Tests: Tests that look for a disease or cause of a disease.

DNA: The genetic material that is passed down from parents to offspring. DNA is packaged in structures called chromosomes.

Down Syndrome: A genetic disorder that causes abnormal features of the face and body, medical problems such as heart defects, and intellectual disability. Most cases of Down syndrome are caused by an extra chromosome 21 (trisomy 21). Many children with Down syndrome live to adulthood.

Fetus: The stage of prenatal development that starts 8 weeks after fertilization and lasts until the end of pregnancy.

Genes: Segments of DNA that contain instructions for the development of a persons physical traits and control of the processes in the body. It is the basic unit of heredity and can be passed down from parent to offspring.

Genetic Counselor: A health care professional with special training in genetics and counseling who can provide expert advice about genetic disorders and prenatal testing.

Genetic Disorders: Disorders caused by a change in genes or chromosomes.

Inherited Disorders: Disorders caused by a change in a gene that can be passed down from parent to children.

Monosomy: A condition in which there is a missing chromosome.

Mutations: Permanent changes in genes that can be passed on from parent to child.

Neural Tube Defects: Birth defects that result from incomplete development of the brain, spinal cord, or their coverings.

Nuchal Translucency Screening: A test in which the size of a collection of fluid at the back of the fetal neck is measured by ultrasound to screen for certain birth defects, such as Down syndrome, trisomy 18, or heart defects.

Obstetrician: A physician who specializes in caring for women during pregnancy, labor, and the postpartum period.

Placenta: Tissue that provides nourishment to and takes waste away from the fetus.

Screening Tests: Tests that look for possible signs of disease in people who do not have symptoms.

Sex Chromosomes: The chromosomes that determine a persons sex. In humans, there are two sex chromosomes, X and Y. Females have two X chromosomes and males have an X and a Y chromosome.

Sickle Cell Disease: An inherited disorder in which red blood cells have a crescent shape, causing chronic anemia and episodes of pain. It occurs most often in African Americans.

TaySachs Disease: An inherited birth defect that causes intellectual disability, blindness, seizures, and death, usually by age 5 years. It most commonly affects people of Eastern and Central European Jewish, Cajun, and French Canadian descent, but it can occur in anyone.

Trimester: One of the three 3-month periods into which pregnancy is divided.

Trisomy: A condition in which there is an extra chromosome.

Trisomy 13 (Patau Syndrome): A chromosomal disorder that causes serious problems with the brain and heart as well as extra fingers and toes, cleft palate and lip, and other defects. Most infants with trisomy 13 die within the first year of life.

Trisomy 18 (Edwards Syndrome): A chromosomal disorder that causes severe intellectual disability and serious physical problems such as a small head, heart defects, and deafness. Most of those affected with trisomy 18 die before birth or within the first month of life.

Ultrasound Exams: Tests in which sound waves are used to examine internal structures. During pregnancy, they can be used to examine the fetus.

Read the rest here:
Prenatal Genetic Screening Tests – ACOG

Genetic testing – About – Mayo Clinic


Genetic testing involves examining your DNA, the chemical database that carries instructions for your body’s functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease.

Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you’re a healthy person, a positive result from genetic testing doesn’t always mean you will develop a disease. On the other hand, in some situations, a negative result doesn’t guarantee that you won’t have a certain disorder.

Talking to your doctor, a medical geneticist or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.

When genetic testing doesn’t lead to a diagnosis but a genetic cause is still suspected, some facilities offer genome sequencing a process for analyzing a sample of DNA taken from your blood.

Everyone has a unique genome, made up of the DNA in all of a person’s genes. This complex testing can help identify genetic variants that may relate to your health. This testing is usually limited to just looking at the protein-encoding parts of DNA called the exome.

Genetic testing plays a vital role in determining the risk of developing certain diseases as well as screening and sometimes medical treatment. Different types of genetic testing are done for different reasons:

Generally genetic tests have little physical risk. Blood and cheek swab tests have almost no risk. However, prenatal testing such as amniocentesis or chorionic villus sampling has a small risk of pregnancy loss (miscarriage).

Genetic testing can have emotional, social and financial risks as well. Discuss all risks and benefits of genetic testing with your doctor, a medical geneticist or a genetic counselor before you have a genetic test.

Before you have genetic testing, gather as much information as you can about your family’s medical history. Then, talk with your doctor or a genetic counselor about your personal and family medical history to better understand your risk. Ask questions and discuss any concerns about genetic testing at that meeting. Also, talk about your options, depending on the test results.

If you’re being tested for a genetic disorder that runs in families, you may want to consider discussing your decision to have genetic testing with your family. Having these conversations before testing can give you a sense of how your family might respond to your test results and how it may affect them.

Not all health insurance policies pay for genetic testing. So, before you have a genetic test, check with your insurance provider to see what will be covered.

In the United States, the federal Genetic Information Nondiscrimination Act of 2008 (GINA) helps prevent health insurers or employers from discriminating against you based on test results. Under GINA, employment discrimination based on genetic risk also is illegal. However, this act does not cover life, long-term care or disability insurance. Most states offer additional protection.

Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis.

The amount of time it takes for you to receive your genetic test results depends on the type of test and your health care facility. Talk to your doctor, medical geneticist or genetic counselor before the test about when you can expect the results and have a discussion about them.

If the genetic test result is positive, that means the genetic change that was being tested for was detected. The steps you take after you receive a positive result will depend on the reason you had genetic testing.

If the purpose is to:

Talk to your doctor about what a positive result means for you. In some cases, you can make lifestyle changes that may reduce your risk of developing a disease, even if you have a gene that makes you more susceptible to a disorder. Results may also help you make choices related to treatment, family planning, careers and insurance coverage.

In addition, you may choose to participate in research or registries related to your genetic disorder or condition. These options may help you stay updated with new developments in prevention or treatment.

A negative result means a mutated gene was not detected by the test, which can be reassuring, but it’s not a 100 percent guarantee that you don’t have the disorder. The accuracy of genetic tests to detect mutated genes varies, depending on the condition being tested for and whether or not the gene mutation was previously identified in a family member.

Even if you don’t have the mutated gene, that doesn’t necessarily mean you’ll never get the disease. For example, the majority of people who develop breast cancer don’t have a breast cancer gene (BRCA1 or BRCA2). Also, genetic testing may not be able to detect all genetic defects.

In some cases, a genetic test may not provide helpful information about the gene in question. Everyone has variations in the way genes appear, and often these variations don’t affect your health. But sometimes it can be difficult to distinguish between a disease-causing gene and a harmless gene variation. These changes are called variants of uncertain significance. In these situations, follow-up testing or periodic reviews of the gene over time may be necessary.

No matter what the results of your genetic testing, talk with your doctor, medical geneticist or genetic counselor about questions or concerns you may have. This will help you understand what the results mean for you and your family.

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Aug. 09, 2017

Excerpt from:
Genetic testing – About – Mayo Clinic

Genetic Testing in San Antonio, Texas | Start Center for …

More and more, the leading edge of modern cancer care is about targeted and individualized therapies treatments that are designed around the unique characteristics of each cancer patient and his or her cancer. Put simply, different people respond differently to certain treatments, and the same goes for their cancer.

At the START Center for Cancer Care, we are the first cancer-treatment provider in South Texas to offer comprehensive genetic testing of tumors, which is the key to providing state-of-the-art, individualized treatment. Through this genetic testing, our board certified and highly trained cancer specialists are able to look for specific genetic markers that are associated with existing data about the appropriateness and effectiveness of the various treatments.

Through research and genetic profiling of tumor tissue from prior patients, weare now able to see that one anti-cancer drug is likely to work better (or worse)for you than another. For instance, a particular genetic marker is associated with better results with anti-cancer Drug A, while anti-cancer Drug B has shown much lower effectiveness.

In this way, we are able to skip treatments that are likely to have a lower chance of benefiting you. Also, knowing that cancer treatment is itself challenging and burdensome, looking for and finding these genetic markers can spare you many weeks of treatment and side effects with a therapy that isnt going to work. Instead, genetic testing helps us go straight to treatments that have a higher probability of working for you or your loved one.

At START, we provide comprehensive genetic testing of patients tumors. Genetic tumor testing is an invaluable resource in cancer care because of its ability to direct cancer doctors in the informed, science-based selection of targeted therapies, whether for conventional therapies or investigational drugs via clinical trials. With the help of a leading East Texas pathology reference laboratory, we are proud to help our patients as part of our commitment to both world-class care and a new era in cancer treatment.

For more information about genetic testing and how it can improve the efficacy of your individual cancer treatment or to schedule an appointment call the START Center at 210-745-6841. Also, feel free to request an appointment using our easy online form.

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Genetic Testing in San Antonio, Texas | Start Center for …

Genetic Testing UNM Comprehensive Cancer Center


The expanding field of genetics and growing research linking mutations in specific genes to increased risk of cancer (cancer susceptibility genes) have led to an interest in predictive genetic testing. This testing may help identify people who are at an increased risk for developing certain types of cancer. While predictive genetic testing may provide information and benefits for some people, it also carries many limitations and risks. People considering undergoing genetic testing need to fully understand the process and its implications.

Genetics and Cancer

A gene is a hereditary unit of DNA that occupies a specific location on a chromosome. Genes carry directions to cells and tell them to make specific proteins that perform and regulate all body functions. Genes are capable of replicating themselves at each cell division. A mutation is a change in the usual DNA sequence of a particular gene. Mutations can be beneficial, harmful, or neutral. Many diseases, including cancer, begin in the genes. The genetic mutation that causes cancer can be inherited from a parent or it can be a random mutation that occurs as a result of a mistake during cell division or in response to environmental factors.

Current research suggests that only 5-10% of cancers are inherited. This hereditary influence begins with the genes that are passed from parent to child. Genes come in pairs, with one copy inherited from each parent. Parents can pass on a normal copy or, if they have one, an abnormal or mutated copy of a gene. Determining the probability of inheriting a gene mutation and/or of developing cancer as a result of a gene mutation is a complicated process that requires an understanding of heredity, genetics and the role of genes.

Predictive Genetic Testing

Modern technology has enabled us to identify relationships between specific genetic mutations and some cancers. As we continue to learn more about genetic mutations and identify additional mutations, the role of genetic testing will continue to grow.

Predictive genetic testing is used to determine if an individual has a genetic that may predispose him/her to developing cancer. An accurate test will reveal a genetic mutation, but cannot guarantee that a person will develop cancer. Likewise, a genetic test that does not find a specific mutation cannot guarantee that an individual will not develop cancer. These tests only suggest that a person may or may not be at some level of increased risk.

Genetic Counseling: Genetic counseling is crucial to the entire process of genetic testing. Individuals considering undergoing genetic testing should first meet with a genetic counselor. The genetic counselor has a multi-faceted role. Prior to testing, the genetic counselor can address individuals needs and concerns and educate people about what to expect from genetic testing. The genetic counselor also can help people to understand their family history and their genetic risks. In addition, the genetic counselor informs people of the risks, limitations and benefits of undergoing testing, so that they can make informed choices about whether genetic testing is appropriate for them. Should an individual choose to undergo the testing, genetic counselors then help him/her evaluate and understand the results and make informed choices about future health care.

Family History: Prior to undergoing genetic testing, it is important to develop a complete family history. The family history should include information from both the biologic mother and father and all of their close relatives. In addition, geographical heritage and ethnicity may prove to be key factors influencing genetic risk. The family history needs to include information about cancer, as well as any other significant health problems in the family. Once a complete family history is developed, a genetic counselor can develop a pedigree, which is a graphic representation of family relationships that shows patterns of disease. The genetic counselor can then analyze the pedigree to determine whether a cancer susceptibility syndrome is present in the family and to determine the most likely pattern of inheritance. The pedigree can also provide clues regarding the risk of cancer.

Testing: If a pedigree indicates that a hereditary genetic mutation could exist in a family, a patient may choose to undergo genetic testing. Many experts recommend undergoing genetic testing only when a pedigree analysis suggests the presence of an inherited cancer syndrome for which a specific mutation has been identified. Other guidelines suggest that genetic testing should be pursued only when the test will impact future medical care and decisions. Predictive genetic tests provide the most useful information when a living family member who is affected with the cancer is tested first. If a mutation is found, then other family members may wish to be tested for the presence or absence of this mutation. However, if no mutation is found in the affected family member, there is no reason to test unaffected family members because the test will be considered uninformative. There are many different types of genetic tests that are used to test for different mutations; therefore, it is important that the genetic counselor carefully examines the pedigree and selects the appropriate genetic test.

Evaluating the results: After the test, an individual may still choose not to receive the results because with a greater understanding of the implications of the test, they may have decided that they would prefer not to know the results. The genetic counselor plays an important role in this decision process and should ensure that the individual knows the limitations of the test and the implications of the results before committing to seeing the results. If an individual does decide to view the results, the genetic counselor can help to explain the results and what they mean.

If a result is positive, the genetic counselor can help the person to understand the risk of developing cancer. In addition, the counselor can help the person develop a plan of action for notifying family members of their potential risk for carrying an inherited mutation. At this point, the counselor can also discuss potential preventive measures and screening procedures that the person can undergo in order to prevent or detect the cancer early, should it develop.

It is important to understand that if an individual does test positive for a mutation that is not present in an affected family member, it is difficult to interpret the risk posed by this mutation. In such cases, it is unlikely that the mutation was inherited. Rather, it was probably the result of mistakes during cell division in their lifetime. While such results would be of interest to the individual, they do not indicate risk for other family members.

If the result is negative, the genetic counselor can help the patient interpret what this means. A negative test result is not a guarantee that a person will not develop cancer. In fact, a genetic counselor should discuss the difference between a false negative and a true negative. A false negative means that the person does indeed carry a genetic mutation, but the test missed it. In addition, there is always the chance that the individual has a different genetic mutation that cannot be identified by the specific test that was used.

Implications of Predictive Genetic Testing

There are not only benefits, but also limitations and risks involved with undergoing predictive genetic testing. People considering these tests need to understand the limitations before they commit to undergoing the procedure.

Limitations: Perhaps the greatest limitation of predictive genetic testing is that it is predictive, not definitive. The test results provide few black and white answers. A negative test result does not mean that a person will not develop cancer, just as a positive test result does not mean that a person will develop the disease. In addition, the results are not modifiable, so if a person is found to be at an increased risk for developing cancer and pursues preventive strategies, there is no way to measure the impact of these strategies. Despite technological advances, no tests are 100% accurate. A test may fail to identify an existing cancer-causing mutation (false negative) or it may incorrectly identify a gene as mutated (false positive.) Testing techniques vary, therefore, it is important to know which method is being used and what the chances are of finding an existing mutation.

Benefits: Predictive genetic testing can identify the cause for cancer in a family and, as a result, could help to identify family members who are at a high risk for developing cancer. This would allow people to take preventive measures and to undergo more frequent screening procedures to detect cancers at early stages when they are most treatable. In addition, genetic testing could identify that a person is not at an increased risk for developing cancer and, as a result, eliminate uncertainty or anxiety. This would also eliminate the need for more frequent screening procedures and would prevent unnecessary preventive measures.

Risks: The potential that the results of these tests could be placed in medical files poses risks for discrimination. People identified as high-risk for developing cancer could be discriminated against in terms of obtaining health, life and disability insurance and employment. On the other hand, if people identified as high-risk manage to withhold the results from their insurance company, they may not be able to justify their need for frequent screening procedures. There are also psychological risks associated with genetic testing. Some people may experience increased anxiety regarding their chance of developing cancer. Others may experience guilt as a result of learning that they did not inherit a mutation while other family members did. These situations can cause tension within family relationships as well.

Current Status

It is important for people to understand all of the issues surrounding genetic testing before committing to undergoing the procedure. Genetic testing can be valuable if people can use the information to make medical and lifestyle decisions that could help to decrease their risk of developing cancer, or at least assist them in detecting the cancer early when it is most treatable. Anyone considering genetic testing should first determine if there is a test designed to identify a mutation for the specific cancer in which they are interested. If so, it will be important to study the information about the tests and the groups in which it has been used. A genetic counselor can play a vital role in advising people and helping them through this process.

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Genetic Testing UNM Comprehensive Cancer Center

23andMe – Official Site

DNA Genetic Testing & Analysis – 23andMe

23 pairs of chromosomes. One unique you.

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Buy 2 or more kits and celebrate your family’s genetic connections.

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Experience your ancestry in a new way! Get a breakdown of your global ancestryby percentages, connect with DNA relatives and more.learn more

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We hear from thousands of customers around the world who write in to tell us abouttheir 23andMe experienceand the impact it has had on their life.

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You are made of cells. And the cells in your body have 23 pairs of chromosomes. Yourchromosomes are made of DNA, which can tell you a lot about you. Explore your 23 pairstoday.

Find out what your 23 pairs of chromosomes can tell you.

Your DNA analysis is performed in US laboratories that are certified to meet CLIAstandardsthe Clinical Laboratory Improvement Amendments of 1988.

A CLIA-certified lab must meet certain quality standards, including qualificationsfor individuals who perform the test and other standards that ensure the accuracyand reliability of results.

We use leading technology to genotype your DNAa custom Illumina HumanOmniExpress-24format chip.

Learn more about our process.

Provide your saliva sample from home. Mail it back to our lab in the same kit itcame inthe postage is pre-paid.

We bring your genetics to you.

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23andMe was founded in 2006 to help people access, understand and benefitfrom the human genome.

We have more than two million genotyped customers around the world.

In 2015, 23andMe was granted authorization by the US Food and DrugAdministration (FDA) to market the first direct-to-consumer genetic test.

23andMe offers two Personal Genetic Services: Health + Ancestry and Ancestry. Both services require submittinga saliva sample using our saliva collection kit that you send to the lab for analysis.

Our Health + Ancestry Service provides insights on your genetic health risks*, carrier status*, traits,wellness and ancestry. We analyze, compile and distill the information extracted from yourDNA into 75+ reports you can access online and share with family and friends.See full list of reports offered.

Our Ancestry Service helps you understand who you are, where your DNA comes from and your family story. Weanalyze, compile and distill your DNA information into reports on your Ancestry Composition,Maternal & Paternal Haplogroups, NeanderthalAncestry, Your DNA Family and provide a DNA Relatives tool to enable you to connect with relatives who sharesimilar DNA.

*The 23andMe PGS test uses qualitative genotyping to detect clinically relevant variants in the genomic DNA of adultsfrom saliva collected using an FDA-cleared collection device (OrageneDX model OGD-500.001) for the purpose ofreporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose anydisease. The relevance of each report may vary based on ethnicity. Each genetic health risk report describes if aperson has variants associated with a higher risk of developing a disease, but does not describe a person’s overallrisk of developing the disease. These reports are not intended to tell you anything about your current state ofhealth, or to be used to make medical decisions, including whether or not you should take a medication or how much ofa medication you should take. Our carrier status reports can be used to determine carrier status, but cannotdetermine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anythingabout your risk for developing a disease in the future or anything about the health of your fetus, or your newbornchild’s risk of developing a particular disease later in life. For Gaucher Disease Type 1, we provide a single reportthat includes information on both carrier status and genetic health risk.The Parkinson’s Disease genetic health risk report (i) is indicated for reporting of the G2019S variant in the LRRK2gene, and the N370S variant in the GBA gene, (ii) describes if a person has variants associated with an increased riskof developing Parkinson’s disease, and (iii) is most relevant for people of European, Ashkenazi Jewish, and NorthAfrican Berber descent.




Get a breakdown of your global ancestry, connect with DNA relatives and more.



Learn how your genetics can influence your risk for certain diseases.


Health +Ancestry Service

Receive 75+ online reports on your ancestry, traits and health -and more.

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2 variantsinthe ARMS2 and CFH genes;relevant for European descent

2 variantsinthe SERPINA1 gene;relevant for European descent

2 variantsnearthe HLA-DQA1 and HLA-DQB1 genes;relevant for European descent

2 variantsinthe HFE gene;relevant for European descent

2 variantsinthe F2 and F5 genes;relevant for European descent

1 variantinthe APOE gene;variant found and studied in many ethnicities

2 variantsinthe LRRK2 and GBA genes;relevant for European, Ashkenazi Jewish, North African Berber descent

1 variant in the SACSgene; relevant for French Canadian descent

1 variant in the SLC12A6gene; relevant for French Canadian descent

3 variants in the PKHD1gene

10 variants in the HBBgene; relevant for Cypriot, Greek, Italian, Sardinian descent

1 variant in the BLMgene; relevant for Ashkenazi Jewish descent

3 variants in the ASPAgene; relevant for Ashkenazi Jewish descent

2 variants in the PMM2gene; relevant for Danish descent

28 variants in the CFTRgene; relevant for European, Hispanic/Latino, Ashkenazi Jewish descent

2 variants in the HSD17B4gene

1 variant in the DLDgene; relevant for Ashkenazi Jewish descent

1 variant in the IKBKAPgene; relevant for Ashkenazi Jewish descent

3 variants in the FANCCgene; relevant for Ashkenazi Jewish descent

1 variant in the BCS1Lgene; relevant for Finnish descent

3 variants in the GBAgene; relevant for Ashkenazi Jewish descent

1 variant in the G6PCgene; relevant for Ashkenazi Jewish descent

2 variants in the SLC37A4gene

3 variants in the ALDOBgene; relevant for European descent

3 variants in the LAMB3gene

1 variant in the LRPPRCgene; relevant for French Canadian descent

1 variant in the SGCAgene; relevant for Finnish descent

1 variant in the SGCBgene; relevant for Southern Indiana Amish descent

1 variant in the FKRPgene; relevant for European descent

3 variants in the ACADMgene; relevant for Northern European descent

2 variants in the BCKDHBgene; relevant for Ashkenazi Jewish descent

1 variant in the MCOLN1gene; relevant for Ashkenazi Jewish descent

1 variant in the CLN5gene; relevant for Finnish descent

3 variants in the PPT1gene; relevant for Finnish descent

3 variants in the SMPD1gene; relevant for Ashkenazi Jewish descent

1 variant in the NBNgene; relevant for Eastern European descent

2 variants in the GJB2gene; relevant for Ashkenazi Jewish, European descent

6 variants in the SLC26A4gene

23 variants in the PAHgene; relevant for Northern European descent

1 variant in the GRHPRgene; relevant for European descent

1 variant in the PEX7gene

1 variant in the SLC17A5gene; relevant for Finnish, Swedish descent

1 variant in the HBBgene; relevant for African descent

1 variant in the ALDH3A2gene; relevant for Swedish descent

4 variants in the HEXAgene; relevant for Ashkenazi Jewish, Cajun descent

4 variants in the FAHgene; relevant for French Canadian, Finnish descent

1 variant in the PCDH15gene; relevant for Ashkenazi Jewish descent

1 variant in the CLRN1gene; relevant for Ashkenazi Jewish descent

1 variant in the PEX1gene

when you buy 2+ Ancestry Service kits,savings based on regular price per kit

Health + Ancestry $199

2 variantsinthe ARMS2 and CFH genes;relevant for European descent

2 variantsinthe SERPINA1 gene;relevant for European descent

2 variantsnearthe HLA-DQA1 and HLA-DQB1 genes;relevant for European descent

2 variantsinthe HFE gene;relevant for European descent

2 variantsinthe F2 and F5 genes;relevant for European descent

1 variantinthe APOE gene;variant found and studied in many ethnicities

2 variantsinthe LRRK2 and GBA genes;relevant for European, Ashkenazi Jewish, North African Berber descent

1 variant in the SACSgene; relevant for French Canadian descent

1 variant in the SLC12A6gene; relevant for French Canadian descent

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23andMe – Official Site

Genetic Panel Test May Help ID Optimal Opioid Dose Needs – Monthly Prescribing Reference (registration)

September 06, 2017

Some pain patients may require higher doses for pain control due to genetic variations found in their pain receptors

According to results of a study presented at PAINWeek 2017, a high percentage of severe chronic pain patients had genetic variations in dopamine receptors and a low variation in opioid receptors, possibly explaining why some patients may require increased doses of opioids for pain control.

The study performed genetic testing on 70 patients with severe chronic pain that were unresponsive to standard medical therapy and required >100mg/day of morphine equivalence for pain control. Buccal swab was used to obtain test samples and 16 single nucleotide polymorphisms (SNP) were analyzed. The 4 categories of genetic markers included in the panel were receptor binding and activity (including dopamine, opioid, serotonin, and galanin receptors), neurotransmitter transporters, central nervous system (CNS) enzymes, and cytochrome P450 enzymes.

Results of the study found that genetic variations in the 3 dopamine receptors tested (DRD1, DRD4, DOR) were observed in 97 to 100% of patients included in the analysis. The study authors also reported that only 17 to 30% of patients were found to have genetic variations in the opioid receptors tested (OPRK1, OPRM1, and MUOR). Additionally, it was found that only the dopamine receptor makers had >90% genetic variation, suggesting that potent stimulation of the opioid receptors was required to obtain pain relief for these patients.

These results suggest that since the dopaminergic pathway was defective, these pain patients relied on potent stimulation of their opioid receptors to obtain adequate pain relief, the study authors add.

Based on the results of this study, some severe chronic pain patients may require higher doses of opioids for pain control due to genetic variations found in pain receptors. The study authors add, These findings need to be investigated in other groups of pain patients who require high dose opioids to determine if dopaminergic defects are an underlying, genetic cause of high dose opioid requirements in some chronic pain patients.

Read more ofMPR’s coverage of PAINWeek 2017 by visiting theconference page.

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Genetic Panel Test May Help ID Optimal Opioid Dose Needs – Monthly Prescribing Reference (registration)

Pregnancy and the issue of genetic tests – 06-Sep-2017 – NZ … – NZCity

Increasingly sophisticated genetic testing available to would-be parents is likely to raise thorny ethical issues, according to a New Zealand Law Foundation report.

Lead author and Otago University bioethicist Dr Jeanne Snelling, says pregnant women now face a bewildering world of genetic testing.

She says expanded screening and testing is likely to affect not only reproductive outcomes, but also women’s experiences of conception and pregnancy in the future.

“Genetic testing in the reproductive context is a particularly high-stakes endeavour,” she said.

“It directly affects a woman’s experience of pregnancy, and may contribute to a decision not to transfer an embryo or to terminate an established pregnancy.”

The report looks at a number of rapidly-evolving genetic technologies.

They include prenatal genetic testing as early as 10 weeks into a pregnancy and preimplantation genetic testing of IVF embryos.

Dr Snelling said a common feature of all the tests was that they enabled an increasing amount of information to be gleaned, compared with traditional prenatal tests.

“All are associated with particular technical, ethical and legal challenges,” she said.

The report examines the implications of new technology for women.

It considers the potential for expanded screening and testing programmes becoming more routine, and the implications for informed consent.

It also looks at concerns over the effects of extended reproductive genetic testing on people with disabilities.

Dr Snelling says there is a “common assumption” that more information is always better.

“That is not always borne out in the empirical studies of women’s experiences,” she said.

“One recurring theme is the pressing need to ensure women and their partners have a genuine choice to accept or decline expanded screening or testing.”


See more here:
Pregnancy and the issue of genetic tests – 06-Sep-2017 – NZ … – NZCity

Genetic testing may benefit this population – ModernMedicine

In the Ashkenazi Jewish population, the mutation profile ofBRCA1andBRCA2is distinctive, with three ancient founder mutations in these two genes. Combined, these three mutations are responsible for 10% of invasive breast cancer among Ashkenazi Jewish women.

The relatively high frequency of the Ashkenazi Jewish founder mutations inBRCA1 andBRCA2has enabled the effective use of cancer genetics services by Jewish women, according to research published online July 20, 2017, in JAMA Oncology.

For Ashkenazi Jewish patients with breast cancer who do not carry one of these three founder mutations, the chance of carrying some other pathogenic mutation inBRCA1orBRCA2, or a pathogenic mutation in a different breast cancer gene, is not known. This information, however, would be valuable to patients and their families for cancer prevention and treatment.


A group of researchers, led by Mary-Claire King, PhD, Department of Medicine, University of Washington in Seattle, conducted a study to determine the frequency of cancer-predisposing mutations other than theBRCA1andBRCA2founder mutations among patients of Ashkenazi Jewish ancestry with breast cancer.

Should Ashkenazi Jewish women with breast or ovarian cancer who have negative results for the three founder mutations obtain complete sequencing ofBRCA1andBRCA2so as not to miss some other mutation? Should these patients also be tested for mutations in other breast cancer genes?

We addressed these questions by sequencing all known breast and ovarian cancer genes in genomic DNA, which was provided by participants of the New York Breast Cancer Study (NYBCS), a longstanding cohort of Ashkenazi Jewish women with a primary diagnosis of invasive breast cancer, the authors said.

The result, they said, is that Ashkenazi Jewish patients with breast cancer can benefit from genetic testing for all breast cancer genes. Comprehensive sequencing would provide complete relevant genetic information.

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Genetic testing may benefit this population – ModernMedicine

New genetic testing lab development to improve DNA test turnaround – Sheep Central

Processing time for sheep DNA tests is set to improve through Neogens new genomic testing laboratory in Queensland.

AUSTRALIAN sheep DNA testing turnaround times are expected to be more reliable and up to 40 percent faster with Neogen Corporations decision to establish a genomic testing laboratory in Queensland.

GeneSeek Australasia, a wholly owned subsidiary of United States-based parent company Neogen, has acquired the assets of the Animal Genetics Laboratory, based at the Gatton campus of the University of Queensland.

The Neogen facility in Australia will be its fourth animal genomics laboratory, joining locations in the US, Scotland, and Brazil.

Chief executive officer of the Cooperative Research Centre for Sheep Industry Innovation (Sheep CRC) Professor James Rower expected reliable turnaround times for DNA could be reduced from four to three weeks.

Todays announcement is a major development which will help consolidate the use of DNA technologies and support accelerated genetic improvement in our flocks.

The Cooperative Research Centre for Sheep Industry Innovation (Sheep CRC) has led the development of DNA testing within the Australian sheep industry and has worked in collaboration with Neogens GeneSeek laboratories since the start of the Information Nucleus program in 2007.

GeneSeek has always provided competitive pricing and excellent quality control but until now all tests had to be shipped to the US for processing, Sheep CRC chief executive James Rowe said.

While the range of DNA test products we have developed has proven to be immensely valuable to sheep breeders, the turnaround time from taking blood samples to receiving results has been the biggest single factor limiting wider uptake of genomic technologies within the Australian sheep industry.

Professor Rowe didnt expect the development would change the price of DNA testing initially.

The real story is that we wont need to send our samples to the United States in the future, which is one step that has been variable and quite frustrating.

Every now and then you get a batch that is held up in US Customs or goes walkabout with the courier system, and when that happens it pushes our turnaround time out to about 10 weeks.

Prof. Rowe said the new lab would result in faster and more consistent turnaround time and combined with the new GeneSeek technical platform would also mean fewer repeat analyses.

At the moment we are operating pretty much on a 4-5 week turnaround, unless you get a glitch, which throws everyone into turmoil, he said.

But Professor Rowe said there would be a transition period while Neogens new Queensland laboratory is set up, but within six months, DNA test turnaround times could drop to three weeks.

Thats a game-changer.

Quicker turnaround would be particularly valuable for terminal ram breeders wanting to make earlier selection decisions after taking weaning weight, muscle and fat scan measurements, he said.

Neogens vice president of corporate development and cirector of GeneSeek AustralAsia, Dr Jason Lilly, said that as Neogens business in Australia had grown, the company had recognized the importance of improving its presence in the local market and its service to strategic partners such as the Sheep CRC.

Combining AGLs complementary expertise and local support with GeneSeeks animal genomic capabilities, will provide Australian sheep producers with the utmost in local service, turnaround time, and technical support, Dr Lilly said.

The lab will feature the latest equipment and will be compatible with the recent developments in the parentage and 15k multi-trait genotyping tests for the Australian sheep industry.

This will mean that breeders will be able to plan their genotyping around the best possible combination of parentage and multi-trait genotyping testing to minimise the costs of double testing and maximise the information from multi-trait genomic predictions, Prof. Rowe said.

GeneSeek has always provided excellent technical support in the design and development of the Sheep CRCs DNA testing systems and being based in Australia is likely to further enhance what has been a very productive working relationship.

Read more here:
New genetic testing lab development to improve DNA test turnaround – Sheep Central

Controversial Genetic Testing Company in Receivership – Pain News Network

In June, FBI agents raided the companys headquarters in Irvine, California. Former and current employees who were interviewed by STAT said the agents were focused on possible kickbacks to doctors who encouraged patients to take Prooves DNA tests. Physicians reportedly could make $144,000 a year in kickbacks that were called research fees.

In July, PNN reported that Proove was linked to a Medicare fraud case, in which three Indiana healthcare providers allegedly caused Proove Bioscience to falsely and fraudulently bill various health care programs for genetic tests… that were not medically necessary and never interpreted.”

Proove was not named as a defendant in the Indiana case. In an email to PNN, Meshkin said Proove had cooperated with investigators.

Proove has cooperated with both the FBI and US Attorneys office on this case,” said Meshkin. “With regards to tests being ‘medically necessary’, Proove received written and signed determinations of medical necessity supporting the tests ordered and billed to insurance carriers just like every other laboratory which requires such a determination on a test requisition form. Thus Proove operated appropriately and consistent with usual and customary practices.”

Meshkin also defended Proove research, published in the Journal of Addiction Research & Therapy, which claimed to show the effectiveness of its genetic tests.The publisher of the journal, OMICS International, has been accused by the Federal Trade Commission (FTC) of deceiving researchers and readers about the true nature of its publications and peer review process.

“Proove can only speak to its experience with this particular journal, Meshkin said in an email to PNN. “Specifically for papers submitted to this journal, our R&D team and academic collaborators engaged in documented, extensive peer-review, received suggested edits and provided responses to the suggested edits to the manuscripts submitted for review and publication. Thus, Proove would certainly consider the publications accepted from Proove-affiliated authors in that journal to be ‘peer-reviewed’.”

According to the FTC complaint filed last August, OMICS has created hundreds of “open access” online medical journals that publish articles with little or no peer review. Researchers are also charged significant fees to get their articles published by OMICS, a “pay to play” policy that some consider unethical because it diminishes the quality of academic journals and the peer review process.

Proove has aggressively promoted its genetic tests with healthcare providers around the country. A pain clinic in Montana, for example, had a Proove patient engagement representative employed on site at the Benefis Pain Management Center in Great Falls.

We had a meeting one day and here are these people from Proove Biosciences. They told us they were doing a research project, said Rodney Lutes, a physician assistant who was later fired by Benefis. They wanted to come to Benefis, into the pain department, and test our patients. We were told this would be at no cost to the patient. My understanding was that they werent going to charge anybody, but I found out afterwards they were charging insurance companies.

They said providers who participated in this would get some form of payment for participating in the program and for filling out all the paperwork.

Lutes supervising physician at the clinic was Katrina Lewis, MD, a pain management specialist at Benefis who is listed as a member of Prooves Medical Advisory Board. Lewis apparently plays a significant role at the clinic, even though she only works there part time. Benefis has denied that Lewis or any of its employees received kickbacks from Proove for referring business to them.

STAT reported that Prooves restructuring was apparently ordered by Mike Leavitt, a Proove board member, who also served as Utah governor and secretary of the Department of Health and Human Services. Leavitts investment firm, Leavitt Equity Partners, provided about $7 million in funding to Proove, according to Meshkin.

A former Proove manager told STAT that she initially felt good about going to work for the company, but soon had misgivings about Proove’s research and billing practices.

It sucked the life out of me, on an integrity level, said Rhonda Frantz-Smith. It got more and more corrupt.

Read the original post:
Controversial Genetic Testing Company in Receivership – Pain News Network

NorthShore University HealthSystem now gives patients option for genetic testing during annual checkups – FierceHealthcare

To better manage patient health, healthcare systems are looking for innovative ways to managehealth risk.And to better manage patient health, NorthShore University HealthSystem is encouragingpatients to add a genetic test to their annual physical.

While NorthShore gauges patient interest in taking the test and helps patients choose what types of screening they may want, patients must pay for any testing themselves, according to an article in Business Insider. The hospital uses an algorithm that scans a patients EHR information to determine the appropriate tests. Because those tests tend to be relatively specific and the science behind the testing changes constantly, the hospital expects such testing to be done annually, rather than as a one-time screening.

As healthcare providers take on more risk for patient health in the context of value-based care, facilities like NorthShore feel a need to be more proactive about keeping patients healthy, rather than focusing solely on treating them when they become ill, Peter Hulick, M.D., the facilitys director of the Center for Personalized Medicine, told the publication

Some analysts have already dubbed the advent of consumer genetic testing a turning point for the practice of precision medicine, which uses genetic data to attempt to predict conditions to which patients may be prone, such as cancers that carry a known hereditary risk. Whether precision medicine warrants the positive buzz remains an open question, however, especially as labs responsible for genetic testing have come under scrutiny for aggressive marketing efforts and alleged kickback schemes.

Some of the questions surrounding the efficacy of genetic testing stem from the relative novelty of the field, so part of NorthShores mission in adding the tests lies in fleshing out the type of value such tests may have, according to the article.

Scientific data aside, the tests have been good for patient satisfaction, according to Hulick. He says offering the option of genetic testing has generated positive feedback, even among patients whose histories did not indicate a need to do any testing.

The rest is here:
NorthShore University HealthSystem now gives patients option for genetic testing during annual checkups – FierceHealthcare

I Tried a Bunch of DNA Tests and All I Got Was a Bunch of Useless Data – Gizmodo

Illustration by Sam Woolley/Gizmodo Media

As a young child, every morning at sunrise I would wake up to tap dance on the patio outside my moms bedroom door, much to my poor moms chagrin. These sunrise salutations became an enduring family story, as did my habit of getting up with the sun.Imagine my surprise, then, when a DNA test recently suggested that I am, in fact, a night owl.

This personal insight came to me via SlumberType, a new DNA analysis app that looks at 10 different genetic variants associated with sleep in order to model your genetic chronotype, or, as the company puts it, where you fall along a spectrum of morningness to eveningness. SlumberType is one of more than a dozen new DNA products in the new DNA app store recently launched by the consumer genetic testing startup Helix. The apps, which rely on DNA sequencing results the user purchases from Helix, range in purpose from the simply entertaining to those intended to helping people sleep, eat and exercise better. But as you might imagine, the secret to a good nights sleep is a little more complicated than DNA alone.

The idea behind SlumberType, Ron Andrews, the CEO of its parent company, Exploragen, told me, is to help people get a better nights sleep by understanding what genetics might say about their natural tendencies. The companys scientists combed through dozens of studies on sleep, and chose genetic variants most strongly associated with sleep to build a formula for modeling peoples individual chronotypes. Andrews said his test helped him realize that hes a bee, (a morning person) and adjust his sleep patterns accordingly. My own results had suggested I am at the far end of the spectrum, my peak activity hours falling in the wee hours of the night. I am typing these words, by the way, at 5:00 a.m., after falling asleep at my laptop working at the oh-so-late hour of 9:00 p.m.

In the past decade, DNA sequencing has gotten really, really cheap, paving the way for an onslaught of direct-to-consumer genetic testing companies that purport to offer the answers to everything from what wine you might like to the type of exercise optimized for your body.

Typically consumer DNA tests require that you spit in a tube, send your saliva into a lab, and a few weeks later get back a one-time report. Helix, though, has a different vision. For an initial fee of $80, the company sequences whats known as the exome, the 20,000 or so most important genes of the human genome. Its a far more extensive test than the genotyping companies like 23andMe and perform. Customers can then pick and choose what pieces of information they might like from their genome, purchasing third-party DNA apps from the Helix store. These apps include those labeled entertainment, like Insitomes ancestry app designed to determine what percentage of your DNA is from Neanderthals. It includes health apps from partners like the Mayo Clinic to help inform people what genetic diseases they may carry. And it includes app advising people on lifestyle choices like exercise and nutrition, the category of testing that has received the most criticism from scientists. The idea is that customers will return to the DNA app store again and again throughout their lives.

Ive previously reported on the pseudoscientific nature of many lifestyle DNA tests. The premise easily inspires skepticisma simple spit test that tells you how to best live your life? Many tests rely on either incomplete science, or an incomplete understanding of how much your genetics relate to who you are.

But I was still curiouscould I glean something useful from these tests, something Id never considered? I tested out a handful of DNA wellness apps from Helixs app store, as well as from Orig3n, another consumer genetic testing company that offers lifestyle DNA tests. On the whole, I found myself besieged by so much (often conflicting) information that it was hard to make any sense of what it really meant. I was sold on the promises of unlocking a whole new level of information, for a truly personalized approach to my health, but what I unlocked instead was a data-driven headache.

One gene in Orig3ns Bliss test confirmedthat I am indeed a morning person, reassuring me that SlumberType had been wrong. Other tests contradicted facts I know to be true, such as the test that told me I have naturally high levels of B12; earlier this year, I started taking vitamin B supplements after a blood test at my doctors office revealed my levels of vitamin B were extremely low. Individual tests also seemed to sometimes contradict themselves, as did the test that informed me I was both not at risk for obesity (hooray!) and prone to obesity (damn) based on different genes.

One genetic variant suggested I may have lower levels of the bad kind of cholesterol. Another indicated higher cholesterol levels than the recommended levels. One test said I metabolized caffeine and alcohol normally. Another said I was fast to metabolize caffeine and slow to metabolize alcohol. While there seemed to be no agreement on whether I can taste bitterness in food, my taste buds assure me that I can.

In 2008, an European Journal of Human Geneticsarticlesuggested that direct-to-consumer genetic tests are often little better than horoscopes that tell people information they were already predisposed to believe. Like a horoscope, I found myself nodding along to information that already fit into my pre-conceived notion of self, and tossing aside anything that didnt.

Most of this stuff is bogus, Eric Topol, a geneticist at Scripps Research Institute, told me as he scrolled through Helixs DNA app store on the other end of the line. I can find hardly any science that backs most of this up. Its going to give genomics a bad name.

There are plenty of explanations for the inconstancies I found in my tests. In some cases, the science was simply shaky, based on studies that were too small, too few or too narrow to extrapolate for the general population. When it comes to nutrition, several experts told me that there is simply not enough research to back up the majority of the many nutrigenomics tests now on the market. (There are a few exceptions. For example, the genomics behind genes that result in lactose intolerance are well-studied.) Different tests look at different genes to tell you the same piece of information. And methods of interpretation vary. SlumberType, for example, built an algorithmic model of my chronotype based on several genetic variants. Orig3n, on the other hand, simply tells users about all of the individual genes they have and what each variant might mean, which is why some of the results seemed contradictory.

The other hitch is that we are, of course, more than the sum of our genetic partsmy tendency towards sunrise is based on more than just the As, Ts, Cs and Gs that comprise my DNA code. Children and elderly people generally rise early; teens stay up late at night. Gender, diet, ethnicity, exercise and other environmental factors can all play a role.

Ive been worried for many years that in the public discourse there is this message that we are our DNA, UC Berkeley geneticist Rasmus Nielsen told me. The biggest problem is that this stuff is marketed as actionable and there is no evidence of that. If theyre selling snake oil, its because of this implicit claim that you can somehow improve your health.

Test that give consumers information about disease must go through the FDA approval process, but otherwise consumer genetic testing has so far evaded regulatory approval. The biggest risk in getting a genetic palm reading is likely to your bank account. But critics point out other troubling possibilities. For one, the growing market of pseudoscientific tests might give consumers a misunderstanding of genetics.

The privacy you give up when giving out your genetic information is a concerna court of law could compel companies to hand over your DNA. And, as all genetic testing companies point out in their fine print, while the Genetic Information Non-Discrimination Act protects against health insurers requesting your genetic data, it does not prevent providers of life, disability or long-term care insurance from doing so when a test has already been done.

Nielsen also told me tests doling out fitness and dietary advice could wind up encouraging people to adopt lifestyle habits that are not really right for them. Many tests suggest that users seek out the advice of a doctor before making lifestyle changes, but often its in the fine print, or somewhere equally easy to miss.

Even if the information is useful, some studies have suggested consumers dont actually change their behavior based on genetic tests anyway.

Its hard to know if these tests are safe without knowing how people are really using them, said Neilsen. In general, you have to ask if its really good to have more information if you dont really have the skills to use that information?

For me, utility was the biggest sticking point. I had a deluge of data about my health and fitness, but there were so many data points I had no idea how to make sense of them. Some results were intriguing, such as the suggestion that a deleted GSTM1 gene means I need to eat more cruciferous vegetables to help my body make up for a lacking enzyme that helps with detoxification. Most of the time, though, the information just wasnt useful.

This isnt to say there are no genetic tests that are worthwhile. Tests like that for the BRCA gene, for example, can help a woman make important decisions about her own health, and parents-to-be often benefit from finding out whether they are carriers for serious genetic disorders.

Some of these things have value, said Topol, pointing to the hereditary cancer test set to debut in the Helix marketplace soon. But cholesterol, you dont need a genetic test for that. It doesnt matter if you have a gene variant. Either you have high cholesterol or you dont.

Robert Green, a Harvard geneticist and advisor to Helix, told me that while he doesnt think every DNA app on the market is useful or scientifically valid, he does think that the explosion of the consumer genomics market will help to educate consumers and ultimately to democratize DNA.

There is a tension between building on legitimate science and marketing things that stray so far from the science or imply lifestyle utility that hasnt been proven, he told me. There is an explosion going on in personalized genomics and its not going to slow down. I dont think we can stop it, so I think we have to start going in the other direction.

Green said he anticipates the field being messy for a while. In the end, though, he sees lifestyle products like those Helix and Orig3n offer as relatively harmless ways to start learning about genetics.

James Lu, co-founder and chief science officer of Helix, was upfront about the limitations of what his companys genetic testing can tell you.

Historically there has been this perspective that DNA is this book of all answers, a Magic 8 ball, per se, he said. Science has categorically proven thats untrue.

His hope, though, is that as the field progresses, the apps in the Helix app store will be able to do a better job contextualizing information to help consumers make sense of what all that data means.

Were going to have to merge DNA and other information together to provide complete answers, he said. Its still the early days. I think a lot of the problems we see in the field will resolve themselves.

Some of the products I tried did give me useful information about how to read my results. DNAFit offers several fitness and nutrition products through the Helix app store. When you get your results, before revealing them the company guides you to a page that explains everything about who we are is comprised of the interaction between two factors how we are born (our genetics), and what we do (our environment and lifestyle). Understanding your genetics, it says, can help you to change the second part and achieve a happier, healthier you.

In the end, though, information is only valuable if we can make sense of it.

DNAFits fine-print reveals something that reads closer to the truth: Genetic Information is subject to significant limitations; some of the interpretations that we provide may not be applicable;Genetic Information reported has not been clinically validated.

In the end, what use did learning I have genes that indicate I am a night owl really do? My genes are part of who I am. But who I am is not a night owl, no matter what any DNA test might say.

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I Tried a Bunch of DNA Tests and All I Got Was a Bunch of Useless Data – Gizmodo

Liverpool Women’s Hospital to increase genetic testing of babies – Liverpool Echo

Liverpool Womens Hospital is to expand its ability to genetically test newborn babies 12-fold.

The NHS Foundation Trust will be able to screen all infants for inherited conditions or illnesses and plan for early treatment as part of a major new IT project.

IT firm Novosco will introduce the computing system which also contribute to a major population health programme in Liverpool – analysing genetic information by location, identifying and enabling work to prevent localised health issues.

The role of genetics in healthcare is one of the most rapidly expanding areas of development for Liverpool Womens.

It provides a regional clinical genetics service covering a population of around 2.8 million people from across Merseyside, Cheshire and the Isle of Man.

Chief executive Kathryn Thomson posted on the trusts website: To discover that you or any child you have or plan to have may be at risk of a genetic disorder which could cause disability or a rare condition is traumatic.

People are sometimes shocked and anxious and wonder what the future might hold.

They need as much information and support as possible to help them cope.

That is why the often unsung work of our clinical genetics team is so important, providing diagnosis and supporting families when they need it most.

Novosco managing director Patrick McAliskey said: We are delighted to secure this contract which will enable the trust to take genetic testing to the next level and play an important role in the identification and prevention of conditions and illnesses in new-born babies and the wider population.

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Liverpool Women’s Hospital to increase genetic testing of babies – Liverpool Echo

Genetic Testing | Epilepsy Foundation

Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing.

Genetics is the study of heredity or how different characteristics (traits) are passed from a parent to a child. A person inherits these traits from their parents. Each person has several thousand genes that are made up of DNA. Genes are packaged into larger structures called chromosomes. Chromosomes are present in almost every human body cell. Genetics play a part in many types of epilepsy.

Advances in science and technology can help identify molecular defects (for example, deletions or mutations) that contribute to the genetics of some types of epilepsy. Genetic testing helps scientists and physicians better understand how various genes may interact to produce a specific epilepsy syndrome. This genetic information may give people with epilepsy and their families more detail about their specific epilepsy syndrome. Several epilepsies have a genetic component and we know that epilepsy can run in families.

Usually, genetic testing requires a blood or salivasample to be taken from the person with epilepsy. The sample is then sent to a laboratory for genetic testing. The test looks at the DNA in the persons blood or saliva. The sample is analyzed for mutations or changes in a subset of genes that have a known association with different types of epilepsy.

There are five types of genetic disorders:

The inheritance of epilepsy is frequently complex. Genetic disorders can cause epilepsy alone or may cause a syndrome that affects various parts of the body as well as epilepsy. Some epilepsy syndromes are known to have a genetic basis, but the gene or genes that cause the syndrome have not yet been identified. Finally, some genetic disorders arise spontaneously through new gene mutations.

More than 20 different syndromes with epilepsy as a main feature have been mapped to specific genes. Many more single gene disorders that cause brain abnormalities or metabolic disorders have epilepsy as a primary symptom. Also, scientists have identified mutations in genes that control sodium, potassium, and calcium channels that can also cause epilepsy.

Its important to note that genetic testing in some epilepsy syndromes has already played a significant role in clinical practice. This has been particularly true for people with epileptic encephalopathies that begin in infancy and early childhood. For example, this may include:

More challenging at this time are the subgroup of genetic generalized epilepsies (GGE) that include childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, photosensitive epilepsy, and generalized tonic-clonic seizures. GGE has a complex genetic inheritance pattern. This subset of epilepsies present a challenge, and currently we have little information about the genes that are implicated in GGE.

However, genetic testing still may have a key role to play. Over time, as more information is collected, the cause of these epilepsies will be better understood. Knowing the cause may improve testing, diagnosis, clinical treatment, and family counseling.

Below are listed some of the epilepsy syndromes that may result from genetic disorders. New genes involved in epilepsy are being identified regularly, and the genetics of epilepsy spectrum continues in a period of rapid growth.

Single Gene Epilepsy Syndromes

Other Single Gene Disorders that Can Manifest as Epilepsy

Other Inherited Metabolic Conditions that May Cause Seizures

Multifactorial Disorders

Mitochondrial Disorders

Chromosomal Disorders

Visit link:
Genetic Testing | Epilepsy Foundation

Hospital to boost genetic testing for newborn babies – ITV News

One of the UK’s largest women’s hospitals is to increase its ability to genetically test newborn babies 12-fold.

Liverpool Women’s NHS Foundation Trust will be able to screen all infants for inherited conditions or illnesses and plan for early treatment as part of a major new IT project.

It will also contribute to a major population health programme in Liverpool analysing genetic information by location, identifying and enabling work to prevent localised health issues.

IT firm Novosco will introduce the computing system.

Novosco managing director Patrick McAliskey said: “We are delighted to secure this contract which will enable the trust to take genetic testing to the next level and play an important role in the identification and prevention of conditions and illnesses in new-born babies and the wider population.”

This role of genetics in healthcare is one of the most rapidly expanding areas of development for Liverpool Women’s.

It provides a regional clinical genetics service based at Alder Hey Hospital, covering a population of around 2.8 million people from across Merseyside, Cheshire and the Isle of Man, chief executive Kathryn Thomson posted on the trust’s website.

She added: “To discover that you or any child you have or plan to have may be at risk of a genetic disorder which could cause disability or a rare condition is traumatic.

“People are sometimes shocked and anxious and wonder what the future might hold.

“They need as much information and support as possible to help them cope.

“That is why the often unsung work of our clinical genetics team is so important, providing diagnosis and supporting families when they need it most.”

Liverpool Women’s NHS Foundation Trust specialises in the health of women and their babies – both within the hospital and in the community. It is one of only two such specialist trusts in the UK – and the largest women’s hospital of its kind.

Novosco is an IT infrastructure and managed cloud computing company and employs over 150 people. It has its headquarters in Belfast, with offices in Manchester, Dublin, and Cork.

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Hospital to boost genetic testing for newborn babies – ITV News

When a Genetic Test Brings Bad News – ChicagoNow (blog)

The Ancestry commercials are right. Genetic testing can launch us on rewarding paths of self-discovery. Last year, using a common test kit, I found out exactly how Polish I was. My mother was 100%, and I inherited 51% of those genes in total, edging out the Scots-Irish portion of my genetic inheritance by a hair. I thought that was pretty cool, as I have many fond memories as a child visiting Grandma Wanda at her walk-up apartment on the 4000 block of Milwaukee Avenue, next to the big furniture sign.

Besides offering the gift of claiming a heritage, genetic tests can help us mitigate the damage of diseases lurking over the horizon. When a rather common form of cancer afflicted my sister Nancy, and returned unexpectedly with a vengeance, I chose to get tested specifically for genetic mutations myself. And not just for me; Nancy and I have three sisters and a brother to think about. Men are affected too by mutations, as I was to learn.

I thought I was prepared for any news, but I hadnt anticipated the steep learning curve ahead. It seems the field of predictive genetic analysis is moving at breakneck speed. Id assumed that breast cancer-associated gene mutations were limited, basically, to two: BRCA 1 and BRCA 2. But no. There are several others, including something called CHEK 2 mutation, which I unfortunately carry. Considering the giant RED HIGH RISK ALERT on my report, I did some research within the medical literature on this one. Turns out its most prevalent in women of eastern European or Polish ancestry. This genetic glitch puts me at high risk of developing breast cancer. If I do, and its effectively treated even if I think I’m cancer free as deemed by a physician using standard methods of analysisthe chances of recurrence are about 30%, as opposed to the 4% risk borne by those without this particular genetic malfunction.

Damn. Well, I get regular checkups, and have both competent genetic counseling and good doctors willing to spend time helping me figure things out. For now, things look fine. Im bummed that I felt stressed and strange this week, as if my person had been violated or my place had been robbed. Knowledge is power but in this case, its also pretty depressing. And let us not forget the uncomfortable “alert your other close relatives” phase. Trust me, even with a clear report for your relatives to peruse at their leisure, there is never a good time, or a good way, to share this stuff. Ive moved from the surprise phase to (apparently) deliberately ruffling my own peace of mind. More of us may find ourselves in my situation as genetic testing becomes more common. I suspect that my biggest struggle is with the concept of time. As in, how much left, and can I really affect the odds?

Ive turned over a few options in my mind, sometimes out loud. In the morning, fortified by strong coffee, makeup applied, and fully dressed for the day, I generally assume the best outcome. Most of my family did not suffer cancer. At night, when I’m tired and start washing off the make-up, I figure I best prepare for the worst. (I know, not very rational due diligence is one thing, opening a mental door to disaster, another). Better cut them off now, I sigh.

The other day a physician cautioned me about quick, life-altering decisions that are currently unnecessary. All right then. Should I leave work and retire earlier than planned? The last thought is tempting. I miss my hometown, a place I appreciate more with every visit. But I love being with my students, too. Their enthusiasm is contagious, and together we are on the path to continuous learning. It keeps me young and feeling alive.

Marc, my husband, gently tells me that now isnt the best time to play 52-card pickup with my life. Im here, and well work through everything together a step at a time, he assures me.Recently during one of my melancholy deep dives, the closing lines of Stanley Kunitz poem, The Layers, came to mind.

Though I lack the artto decipher it,no doubt the next chapterin my book of transformationsis already written.I am not done with my changes.

This snippet, in turn, sent me to my jewelry box to dig out a little-worn silver ring I’d had engraved with the words, “It Is Already Written.” Fellow fans of the movie Slumdog Millionaire will recognize the reference.

Im glad my hyper-activated imagination finally turned up something helpful to ward off bad thoughts. Stanley Kunitz, who died weeks shy of his 101st birthday, understood that the imagination can do much more than worry. It can transform any experience. Its sheer force shapes reality and reminds us, wherever we are, whatever we face: we are not done. This is our time to take ownership of our lives as fully as possible, and to live as well as we can.

This was my turning point of the week. In the next blog, Ill talk a little more about coping in gnarly situations like this.

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When a Genetic Test Brings Bad News – ChicagoNow (blog)

Genetic tests are everywhere, but how reliable are they? – The Boston Globe

Illustration by cristina span/for the boston globe

The Greeks asked their oracles to predict future fortunes and future losses. The Romans studied the entrails of sacrificed animals for similar reasons. In modern-day medicine, though, soothsayers come in the form of genetic tests.

Ever since the human genome was sequenced almost 15 years ago, tens of thousands of genetic tests have flooded the marketplace. By analyzing someones DNA, often through a blood sample or cheek swab, these tests promise to foretell whether a patient is prone to certain cancers, blessed with the potential to become a star soccer player, or at an elevated risk of having an opioid addiction.


These types of genetic tests are finding an eager audience. The North American genetic testing market, already the largest in the world, was worth $11.9 billion in 2016, by one estimate, and is expected to grow at more than 15 percent a year for the foreseeable future. Companies such as LabCorp, which offer genetic tests via doctor recommendations, and the healthcare giant Roche have moved aggressively into the field. The company 23andMe, a household name because of its ancestry tests, sells health-related tests directly to consumers.

But for a source of medical information to be legally sold in the United States, just how accurate does it need to be?

Like a prediction from a crystal ball, genetic test results are sometimes wrong. Some tests that predict the likelihood a young pregnant woman will have a child with a genetic condition such as Down syndrome may only be correct only 60 percent of the time. Most genetic tests, and many other lab tests, go unvetted by the Food and Drug Administration. That means these tests may not undergo any independent review to make sure they accurately pick up the disease or genetic conditions they claim to be seeking.

Using the worlds first portable DNA lab to sequence beer is a cool thing to do.

The FDA has been wrestling for years with whether and how to do more. During the Obama administration, the agency proposed a new set of draft limits on a whole class of tests, and then put them on hold immediately after Donald Trumps election. This spring, the FDA gave 23andMe permission to market genetic screenings for susceptibility to Alzheimers, Parkinsons, and other conditions. It was the first time the agency blessed direct-to-consumer tests for genetic health risks.

While the debate over genetic testing often follows a pattern familiar from countless other industries business groups want less regulation, and consumer advocates favor more it also raises more cosmic questions: Is a medical test just a piece of information? Or is it something more, if its result leads to dramatic or irreversible action such as chemotherapy or an abortion? And if a data point is factually suspect, or ripe for misinterpretation, when and how should it be offered to consumers?


Especially if regulators stand aside, Americans may soon be swimming in even more tests that vary greatly in their reliability. Yet for some people contemplating a current ailment or their future well-being, getting an answer even an unreliable one may be better than no answer at all.

Especially for people expecting a baby, genetic tests can be hard to resist. I think we all are wanting to know our child doesnt have something… we want them to be healthy, said Mischa Livingstone, a filmmaker and professor who lives in California. Without asking for it, his pregnant wife, Jessica, was given a genetic test that predicted a 99 percent chance their child would have Turner syndrome, a genetic condition that can lead to short stature, heart defects, and other symptoms. But genetic tests for Turner are more often wrong than right a fact the couple didnt know at the time.

They were devastated, and immediately went for more invasive testing, which showed the fetus was fine. But their sense of dread didnt lift until their daughter, now 2 1/2, was born perfectly healthy.

Despite the heartache a faulty genetic test result caused, Livingstone says hed consider asking for one again. I think it feeds into that need for certainty, he said.

Both individuals and society as a whole are intolerant of the unknown, medical sociologists say.

Long before genetic screenings, there was a critical relationship between lab tests and medical treatment. Doctors often wont prescribe drugs or treatment without a positive test result. Insurance payments are rarely processed without diagnostic codes. The rise of genetic testing wont change, and may even amplify, that dynamic.

While some diagnoses may still carry social stigma think schizophrenia, for example they more often may confer legitimacy. Having a gene for alcoholism, for example, can make people view the problem as biological, as opposed to a character flaw. For patients, genetic tests promote a therapeutic optimism a hope that they can be treated and cured for an immediate problem or a future one, according to Michael Bury, professor emeritus at Royal Holloway, University of London, who studies society and illness.

A test alone can feel like a step forward. Undergoing a screening, said Natalie Armstrong, professor of healthcare improvement research at the University of Leicester, can make people feel that at least they are doing something proactive.

Interestingly, one study indicated that certain direct-to-consumer genetic tests dont affect users behavior or anxiety levels, bolstering the argument that people may use the information as data points, not a surefire prediction of their own fate.

Many bioethicists are unpersuaded. On an individual basis, it is tempting to discount the pitfalls of a little extra information, says Beth Peshkin, an oncology professor and genetic counselor at Georgetown Lombardi Comprehensive Cancer Center in Washington, D.C. But on a population level the implications of inaccurate results can be costly and, sometimes, deadly.

One of the most cited examples of this harm is from a 2008 genetic test for ovarian cancer that misdiagnosed women, some of whom had their ovaries removed unnecessarily before the test was pulled from the market. Because test makers do not have to report when a test turns out to be wrong in fact many people may never know when a test result is a false positive or negative FDA officials have said it has been almost impossible to assess the overall harm from all unregulated tests.

Cost is another concern that may arise from the overuse of genetic tests that proliferate without meaningful oversight. Tests often beget more tests that cost an ever-escalating amount of money. Enough testing, will invariably pick up something abnormal in a patient, even though it may not harm them, some experts believe.

In some ways its easy for us to try and find something definitive and act on that even though it has nothing to do with what is wrong with the patient, said H. Gilbert Welch, a cancer research at Dartmouth College who has written extensively on the dangers of overtesting. Genetics is an amazing tool… but to what extent does that data predict something that you care about? Is it useful knowledge?

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The American Clinical Laboratory Association, the key trade group for genetic test makers, and other advocates of lighter regulation argue that bad tests are rare, and that its more important for the free market to allow innovation. With more tests in place to identify disease, cures come next, they say.

So far, the public has shown little concern about the fallout of genetic testing. While a 2016 poll showed only 6 percent of American adults have undergone genetic testing, 56 percent of them said they would want to if it could predict cancer or a disease like Alzheimers. Most Americans, the poll found, believe genetic tests for predicting disease are mostly accurate and reliable.

Safety advocates best chance to tighten regulation may have already passed. The world of genetic testing becomes more free-wheeling and consumer-driven all the time. By one industry estimate, 10 new genetic testing products enter the market each day. Despite considerable skepticism from medical experts, new apps purport to use data from gene sequencing to develop personalized diet plans and fitness routines.

The FDAs now-shelved rules would have classified genetic and other tests according to how much harm they could cause if their result was wrong. For example, a new genetic test for colon cancer, which requires intrusive and costly treatment, likely would have been subject to full FDA review; the maker of a test that predicts mere baldness might only have had to register it with the agency and report any known problems with it. Under the Trump administration, the agency appears less likely to draw such distinctions or impose new restrictions at all.

People want answers soon, and their inclination is to believe what appears to be solid, unassailable medicine, said Robert Klitzman, a Columbia University bioethicist. Individuals will need to evaluate these tests carefully. The notion of being able to tell your fortune has great lure. But its a little bit of hubris. We still dont know so much.

Genetic testing, still in its infancy, promises a measure of clarity about the future of our bodies. But as genetic science rapidly evolves, that modern-day crystal ball raises vexing new questions and creates its own kind of uncertainty.

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Genetic tests are everywhere, but how reliable are they? – The Boston Globe

Trying to Find a Healthy Diet? Look to Your Genes –

The latest trend in nutrition isn’t a fad diet or newly discovered supplement; it’s your DNA.

Unlocking the secrets of one’s genetic code used to be confined to the laboratory, but increasingly, the big business of DNA is now going after your eating habits.

Scientists already know that variations in our genes determine how well our bodies metabolize certain compounds for example, people with a variation of the CYP1A2 gene metabolize caffeine more slowly, and are at an increased risk of heart attack and hypertension if they drink more than a couple of cups of coffee a day.

Companies now want to take the buzz over DNA testing one step further and market the tests as a way to determine how peoples bodies handle nutrients. And tech firms are stepping up to fill that demand. More and more genetics startups are getting into nutrition, with tests that claim to help people choose the best food to eat to feel good and even lose weight.

Genetic testing service 23andMe has genotyped more than 2 million customers to determine ancestry and genetic health risks, and Nutrigenomix offers tests designed to help medical professionals make recommendations for a person’s intake of sodium, omega-3 fatty acids, vitamin C, and yes, caffeine.

Ahmed El-Sohemy, a professor of nutritional sciences at the University of Toronto and the founder of Nutrigenomix, points to research that shows the “one-size-fits-all model of nutritional guidance” is not the most effective way for people to eat healthily or lose weight.

“There’s research now showing that people who get DNA-based dietary advice are more likely to follow recommendations. So not only are people getting more accurate dietary advice, but they are more likely to follow it,” said El-Sohemy.

Now, there’s a new kid on the block: Oakland-based personalized nutrition company Habit.

“We think we’re going to disrupt the diet industry,” Habit founder and CEO Neil Grimmer told NBC News. “When you think about moving from a one-size-fits-all approach to food to something that’s highly personalized, it changes everything. It changes the way you shop. It changes the way you eat. And quite frankly, it even changes the way you think about your own health and well-being.”

Habit’s home testing kit containing DNA cheek swabs, three finger-prick blood tests, and a special shake. The bloodwork is designed to show how your body metabolizes the huge amounts of carbohydrates, fats, and proteins in the shake. Chiara Sottile

At Habit, it’s not just DNA data they’re using to make diet recommendations. For $299, Habit sends customers an at-home test kit containing DNA cheek swabs, three finger-prick blood tests, and a “metabolic challenge shake loaded with 950 calories. Users take one blood test prior to drinking the shake, and two more timed blood pricks afterwards. The bloodwork is designed to show how your body metabolizes the huge amounts of carbohydrates, fats, and proteins in the shake.

“You layer in your blood work, your fasting blood work, and you layer in your metabolism, and all of a sudden you have a really clear picture of what’s going on inside yourself,” said Grimmer.

The Habit test kit also asks you to measure your waist circumference and provide information about your weight and activity level. Users send in the DNA swabs and blood sample testing cards sealed in a pre-paid envelope, and then get their results back a couple weeks later.

Health-conscious San Francisco resident Michelle Hillier was introduced to Habit through a friend. When she received her test results, she was surprised to learn she is a diet type Habit calls a “Range Seeker” meaning she should eat about 50 percent of her daily calories in carbohydrates, about 30 percent from fat, and 20 percent from protein.

“You hear so much about how you need so much protein, and I’m a pretty active person so I had been really upping my protein. And to find out that I’m supposed to have more carbs than anything else was really surprising to me,” said Hillier, who is not affiliated with the company.

She also learned that she has genes that are impactful for lactose and caffeine sensitivity, something she had suspected. Like all Habit users get for the $299, after she received her test results, Hillier had a 25-minute phone consultation with a registered dietitian from the Habit team.

Michelle Hillier, pictured, learned she is a “Range Seeker,” which means she should eat about 50 percent of her daily calories in carbohydrates, about 30 percent from fat, and 20 percent from protein. Chiara Sottile

The Habit test kit is now available nationally (except in New York, New Jersey, and Rhode Island, because of regulatory restrictions). In the San Francisco Bay Area, Habit users get an added perk: the company will cook you fresh meals in their Oakland kitchen based on your diet recommendations and deliver them to your door weekly.

Hillier receives about three dinners a week costing between $10 and $15 a meal and she can choose her meals with Habit’s online dashboard.

For Hillier, the Habit meals have been a positive addition to her already healthy lifestyle, though she admits: “The shake was awful,” referring to the metabolic challenge shake. “It was like drinking seven coffees, four avocados, and a scoop of ice cream,” said Hillier with a laugh.

Blood pricks and a “Challenge Shake” that lives up to its name could be barriers for some people but, Hillier says, it was well worth it for her.

“I’ve noticed that my clothes are looser on my body, I feel better. I noticed that I have more energy, honestly, since I started doing the meal plans,” said Hillier in an interview, noting she’s lost about seven pounds since she started receiving the Habit meal plans in May.

Kristin Kirkpatrick is a registered dietitian at the Cleveland Clinic Wellness Institute, where they offer DNA testing kits from Nutrigenomix.

“Many of my patients have mentioned to me that it [nutrigenomics] has truly changed the way that they eat. But I don’t think it’s the first step. I think seeing a professional and going over what those important goals and barriers are is definitely what you want to do first, said Kirkpatrick in an interview with NBCs Jo Ling Kent.

As some urge potential consumers to do their homework and speak with their own healthcare professional before they take the plunge into their genetics, the market for DNA-based products is racing ahead. Just last month, Helix, a personal genomics company, launched the first online “marketplace.”

Customers who have their genome sequenced with Helix get access to a slew of services from other emerging genomics companies ranging from Vinome,which aims to pick wine for you based on your genes, to EverlyWell, which offers food sensitivity and metabolism tests.

“People are very interested to go beyond the generalities that they’ve seen and get more specific to what’s actually impacting their genes,” said Kirkpatrick, though she warns this kind of testing “may not be ready for primetime.”

The Academy of Nutrition and Dietetics agrees, writing in a 2014 opinion paper that, “…the use of nutrigenetic testing to provide dietary advice is not ready for routine dietetics practice.” In the same paper, the Academy did also characterize nutritional genomics as insightful into how diet and genes impact our phenotypes.

“I don’t think it’s going to answer every single question that you may have about your health and it’s definitely not going to answer things that are very specific to health ailments that you may have,” Kirkpatrick told NBC News.

“Will it put you in the right direction towards knowing what foods you need to increase? What foods perhaps you should have less of and what’s the best source of protein or fat related to weight loss? Absolutely,” Kirkpatrick continued.

By 2020, the genomics market is expected to generate a staggering $50 billion globally, and diagnostic tools, health tech, and wireless wearables are expected to boom from $2 billion to $150 billion globally, according to one analysis.

“I think this is the start of a highly personalized future,” said Habit CEO Neil Grimmer. “What we really hope to do is actually dispel a lot of the myths, get rid of the fad diets and actually get something that’s personal to you.”

Michelle Hillier says her Habit “nutrition coach,” a registered dietitian, also advised her that she should consider factors beyond just her test results.

“She said take the results with a grain of salt, because you have to first see how you feel when you eat this way. It’s not meant to be the ‘end all be all,’ but it is a guide like anything else,” said Hillier.

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Trying to Find a Healthy Diet? Look to Your Genes –

Most Women with History of Ovarian or Breast Cancer Are Not Receiving Recommended Genetic Tests, Study Finds – Ovarian Cancer News Today

Genetic screening to detect mutations that can predispose women to the development of breast or ovarian cancer has available since the mid-1990s. However, more than 80 percent of women at risk for these malignancies have not taken the test or discussed it with their physician or healthcare provider, a new study says.

The study National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer was published in the Journal of Clinical Oncology.

In the United States, about 15 percent of ovarian and breast cancers cases are caused by heritable genetic mutations, including those affecting the BRCA1 and BRCA2 genes.

Because these patients are at risk of developing a second cancer, and their relatives also might have higher chances of getting cancer if they share the same mutations, it is important that they undergo genetic testing.Early identification of these risk factors is critical for treatment decisions and preventive care.

Many of these women have inherited genetic changes that put them and their family members at risk for future cancers, Christopher Childers, MD, first author of the study, said in a press release. Childers is resident physician in the department of surgery at the David Geffen School of Medicine at UCLA.

Identifying a mutation is often important for surgical decision-making and cancer therapy, but its importance extends further than that. If individuals are aware that they have these mutations, they can take steps to lower their future cancer risk, Childers said.

Aiming to determine how many patients at risk for these mutations have not been tested, researchers at the UCLA Fielding School of Public Healthanalyzed pooled data from the 2005, 2010, and 2015 National Health Interview Surveys, which are administered by the Centers for Disease Control and Prevention.

To determine women for whom the genetic test would be more beneficial, the team used theNational Cancer Center Network(NCCN)s guidelines for managing care for cancer patients. Women who had had ovarian cancer, or women who had breast cancer at a younger age, or had a mother, sister or daughter who had breast or ovarian cancer, were those for whom a genetic test wouldbe recommended.

Among the 47,218 women included in the surveys,2.7 percent had had breast cancer. Among them, only 29 percent discussed the genetic test with their healthcare provider, and 20.2 percent were advised to be tested; but only 15.3 percent actually took the test.

For the 0.4 percent who had had ovarian cancer, 15.1 percent had discussed the matter with a physician or healthcare provider, and 13.1 percent were advised to undergo genetic testing. But only 10.5 percent were actually tested.

These numbers show that less than one in five women with a history of breast or ovarian cancer who met the NCCN criteria undergo genetic testing.

Many women are not receiving vital information that can aid with cancer prevention and early detection for them and their family, said co-author Kimberly Childers, genetic counselor and regional manager of the Providence Health and Services Southern Californias clinical genetics and genomics program. Thus, we have identified an incredible unmet need for genetic testing across the country.

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Most Women with History of Ovarian or Breast Cancer Are Not Receiving Recommended Genetic Tests, Study Finds – Ovarian Cancer News Today

You can be denied life insurance based on genetic tests and there’s little protection – ABC Online

By Jane Tiller and Paul Lacaze, Monash University

Posted August 25, 2017 17:11:23

A parliamentary inquiry is currently underway into Australia’s life insurance industry, which has raised several issues including discrimination by insurers against people with mental health problems.

In our submission to the inquiry, we argue comparable discrimination is possible based on genetics, with insurers denying applicants life insurance and raising premiums inappropriately based on genetic test results.

There is a concerning lack of regulation over the use of genetic information by the Australian life insurance industry.

Insurance companies are allowed to use genetic test results to discriminate against applicants for life, permanent disability, and income protection insurance (which all come under the life-insurance product category), with little independent oversight or consumer transparency.

This discrimination can deter people from getting genetic tests and being involved in medical research that could prove useful for their future health and scientific understanding of diseases.

Australian insurers can increase premiums, exclude insurance cover for certain conditions such as cancer, or refuse insurance cover altogether purely based on your genetic test results.

Genetic tests look at DNA, the material that contains the instructions for our bodies to grow, develop and function.

Some DNA changes cause diseases such as cystic fibrosis or Huntington’s Disease, while others can make us more susceptible to conditions such as cancer.

Doctors can refer patients to a genetics service if they consider such tests might be of value due to family or personal history.

Although cases of genetic discrimination are difficult to identify, they have been documented in Australia.

In one case, a woman with a BRCA gene, which is known to increase breast cancer risk, elected to have both breasts removed to reduce her risk.

However, the consequent, significant risk reduction wasn’t taken into account by the insurer.

When she applied for death and critical illness cover, the insurer excluded any cancer cover and imposed a 50 per cent premium loading for death cover.

In another case, a man whose mother had bowel cancer was found to carry a gene increasing his risk of also developing bowel cancer.

He was refused cancer cover despite proactively seeking increased surveillance through colonoscopies, which reduced his risk back down to population average.

The man eventually obtained cover, but only after taking a complaint to the Human Rights Commission.

Under Australian law, life insurance applicants must disclose any known genetic test results if requested by the insurer.

This includes results from approved clinical genetic tests, but also less reliable findings from research or direct-to-consumer (DTC) genetic tests, if they are known to the applicant.

Direct-to-consumer genetic tests are a new concept whereby consumers have genes tested directly through a private company without medical consultation.

Although most of these lack evidence of any predictive medical value, the law does not distinguish between types of genetic tests.

Australian life insurance companies are technically required by law to justify decisions based on genetic results.

In practice, however, consumers have no way of requiring insurers to provide information about how decisions are made.

The Australian Government leaves the life insurance industry to self-regulate its policy through the Financial Services Council (FSC).

This essentially means the insurance industry writes its own rules on the use of genetic data, raising obvious conflicts of interest.

Recently the FSC updated its genetic testing policy to suggest that insurance companies ask applicants if they are considering having a genetic test. This is a concerning development.

Many other countries have protected consumers by restricting or banning the use of genetic information for insurance altogether.

In the UK, a moratorium established in 2001 sets out an agreement between the government and the insurance industry not to ask for, or use, genetic test results (except for Huntington’s Disease for policies worth over 500,000).

Canada has just passed legislation prohibiting insurance companies from asking for any genetic test results.

And many European countries such as Belgium, Austria, Denmark, France, Germany, Lithuania, Norway, Portugal, and Sweden have implemented outright bans or other regulation in accordance with the Council of Europe’s Oviedo (human rights and biomedicine) Convention.

In Australia, the situation is very different. Patients considering predictive or family-based clinical genetic testing are frequently advised to review their life insurance situation prior to taking the test, due to the obligation to disclose results to insurers.

The fear of unknown insurance implications deters some of these people from having this testing.

This can sometimes mean passing up critical information that can be used to help prevent cancers and other serious diseases.

For example, one study looked at patients at risk of bowel cancer due to family history.

It found more than double the patients, who had been advised of the possible effect of having a positive test on their insurance claim, declined testing compared with patients who had not been advised of this possible effect.

Some participants are also being deterred from involvement in medical research, which can sometimes involve the return of genetic findings.

Fortunately, this issue only affects life insurance and related policies in Australia, not private health insurance, which is treated differently.

However, this distinction isn’t always understood by consumers, who may mistakenly believe that these issues affect all insurance types.

As genetic testing becomes more widespread in our society and offers increased potential to help manage patient risk, we must find a way of regulating the insurance implications.

The Australian Government must take action towards an immediate ban (moratorium) on the use of genetic test results in insurance, until adequate long-term regulation is in place.

This would bring us in line with other countries.

Jane Tiller is ethical, legal and social adviser in public health genomics at Monash University.

Paul Lacaze heads Monash University’s public health genomics program.

Originally published in The Conversation


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You can be denied life insurance based on genetic tests and there’s little protection – ABC Online

Most Breast-Ovarian Ca Patients Miss Genetic Tests | Medpage Today – MedPage Today

Action Points

Despite the existence of evidence-based guidelines supporting genetic testing for women with a history of breast and/or ovarian cancer, most of these women didn’t get tested, according to researchers.

Based on an analysis of pooled data from three cancer control modules, fewer than one in five women with a history of breast or ovarian cancer meeting National Cancer Comprehensive Network (NCCN) criteria underwent testing, reported Christopher P. Childers, MD, of the David Geffen School of Medicine at UCLA in Los Angeles, and colleagues.

Up to 10% of breast and 15% of ovarian cancers can be linked to heritable gene mutations — most commonly mutations in the BRCA1 and BRCA2 — which suggests that the identification of women with these mutations can direct both cancer treatment and surgical decision-making, they wrote in the Journal of Clinical Oncology.

While the rates of genetic testing in newly diagnosed patients meeting NCCN criteria have been increasing, “there is likely a large cohort of breast and ovarian cancer survivors for whom testing was not offered, pursued, or even available,” Childers’ group wrote.

They used nationally representative samples from the 2005, 2010, and 2015 National Health Interview Surveys (NHIS). Eligible patients included women with a history of breast cancer and/or ovarian cancer who met certain NCCN eligibility criteria based on age of diagnosis and family history:

Outcomes included the percentage of eligible individuals who either discussed genetic testing with a health professional, were advised to undergo such testing, or actually underwent testing.

Of 47,218 women identified from the three surveys, 2.7% had breast cancer. Of those women, about 36% met one or more of the eligibility criteria, and of those, 29% discussed testing with a healthcare professional, 20.2% were advised to undergo testing, and 15.3% underwent testing.

Approximately 0.4% of the women in the survey had ovarian cancer. Of those, 15.1% discussed testing, 13.1% percent were advised to undergo testing, and just 10.5% underwent testing.

Based on the pooled sample, an estimated 1,471,279 women with a history of breast and/or ovarian cancer meet one or more of the eligibility criteria. The authors determined that within this population, the rate of genetic testing was 13.8% (95% CI 10.8% to 17%).

“Using only these five criteria, this generates a population-based estimate of unmet need of genetic testing for breast and ovarian cancer survivors between 1,212,334 and 1,312,381,” they noted.

Furthermore over 70% of eligible patients with breast cancer and 80% of those with ovarian cancer haven’t even discussed genetic testing with a health professional.

“Given the low testing rate and large impact of identifying a heritable mutation, aggressive solutions should be considered,” Childers’ group suggested. “These may include universal testing for women with breast and/or ovarian cancer or other select populations, directed patient education for self-referral, or modified direct-to-consumer testing.”

The study had some limitations, including the fact that NHIS collects self-reported data only, and is not validated against the medical record. Also, recall bias in terms of “advising, discussing, and testing are all possible and are likely magnied as patients become more removed from their treatment,” the authors noted.

In an accompanying editorial, Kevin S. Hughes, MD, of the Avon Comprehensive Breast Evaluation Center at Massachusetts General Hospital in Boston, lamented that while many new strategies involving genetic testing have been adopted and save lives, “we have yet to apply these strategies at the population level where their effect can be generalized beyond a small number of selected patients.”

Hughes wrote that while some reports of the underutilization of genetic testing have been met by calls for more genetic counselors, “there is nowhere near the number of genetic counselors needed to take on population-level testing.”

The problem is that too many mutation carriers are unaware of their status and could develop cancers that could have been prevented or discovered earlier, he stated, adding that healthcare professionals need to take certain steps that will increase the rate of detection of these mutations.

He suggested some steps that can be taken, such as abbreviating pretest counseling sessions to enable more patients to be seen by genetic counselors or educated clinics. “It is time to move to population-level screening for hereditary cancer susceptibility mutations. We have thought about this for 20 years. It might be time to take action,” he wrote.

Childers disclosed funded from the Agency for Healthcare Research and Quality.

Childers and co-authors disclosed no relevant relationships with industry.

Hughes disclosed relevant relationships with Hughes RiskApps, CRA Health, Myriad Genetics, Veritas Genetics, Focal Therapeutics, and Health Beacons.


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Most Breast-Ovarian Ca Patients Miss Genetic Tests | Medpage Today – MedPage Today

Genomic Revolution is Here: What an Insurance Professional Needs to Know – Corporate Wellness Magazine

Genomic Revolution is Here: What an Insurance Professional Needs to Know

Dr. Phil Smalley

Is genetic testing ready for prime time use in employee benefits and insurance products? We think so, albeit with some caveats. Other expert opinions are mixed regarding this question, but one thing is for sure, this field of medicine is growing in leaps and bounds. New genetic discoveries are published weekly leading to new treatments, better disease prevention, less drug side effects, and overall improved public health. And actually, genomics is already being used in clinical practice in certain settings as mandated by various professional association clinical guidelines. Some innovative insurance companies have started to offer genetic testing of various forms to their insurance clients and as part of employee health programs in the US and around the world.

The cost of various genetic tests ranging from USD $200 to $5000 is one of the commonly quoted reasons why doctors and patients avoid needed genetic tests. One study of lung cancer patients showed that 41% of patients did not follow the recommended clinical guidelines for genetic testing. They mention uncertainty regarding cost reimbursement as one of the barriers to ordering these tests. (1) This is where genomic based products can play an important role at the time of cancer diagnosis as an employee benefit.

In these next 10 monthly articles, we will explore the topic of genomics as we discuss genetic basics, use of genetics in cancer management, pharmacogenomics, screening with liquid biopsies and disease risk stratification. Because I am a medical doctor working in the insurance industry and not a geneticist, I hope to present a different point of view on this important topic from a practical insurance perspective. We will show you the benefits of incorporating genetic tests of various types into employee benefits and in other insurance products. The emphasis of our work is more in the post-policy issue space rather than entering the political, ethical and regulatory whirlwind surrounding genetic testing at the time of underwriting. Our goal through these articles is to give the insurance professional 5 or 6 key talking points to make the sale to insurance companies and employers on the benefits of genetic testing services. Equally important, these articles will cover some of the challenges associated with going down this road and discuss ways to overcome these obstacles.

In the spirit of full disclosure, I am writing on behalf of a new genetic testing service intermediary, Wamberg Genomic Advisors (WGA) who stand at the crossroads of the insurance and genetic testing industries. They use their collective knowledge and expertise to guide insurance clients in their successful adaptation of this new genetics technology to improve their employees health, to increase sales, maximize return on investment and improve public health and longevity.

A 2016 Harvard T.H. Chan School of Public Health survey reports that 6% of the US population has had some form of genetic testing done and 81% found the information useful. (2) Presently, clinical doctors mostly order genetic tests in patients who have a strong family history of disease or when the patient has symptoms and the genetic test is performed to diagnose a condition or to help decide upon the most appropriate form of treatment. But with the price of genetic testing falling precipitously, we have seen a rapid increase in public access to genetic testing either through their doctor, employee health programs or via direct to consumer genetic testing kits. Insurance companies will need to adapt to this possible asymmetry of information that could lead to anti-selection.

In next months September article, we will get into the real meat of this topic. We will discuss the basics of genetics, the different types of genetic tests and their accuracy. We will cover the benefits of genetic tests and get into some practical example uses of genomics in corporate wellness programs, voluntary benefits and in other insurance products.

I invite you to answer this anonymous one question online survey and see what others think about genetic testing. Also, post your comments and opinions in the comments section below as we start this open discussion.

Certainly yes2 ( 100 % )

Maybe0 ( 0 % )

Not really sure0 ( 0 % )

Likely not0 ( 0 % )

Certainly not0 ( 0 % )


Dr. Phil Smalley is an Internal Medicine specialist with 27 years of experience in insurance medicine. He recently retired from his position as Senior Vice Presidentand Global Chief Medical Officer for RGA International Corporation. Dr. Smalley received his medical degree from the University of Toronto, Canada. He is aFellow of the Royal College of Physicians and Surgeons of Canada and Past President of the Canadian Life Insurance Medical Officers Association. Dr. Smalleywas also Managing Director of the Longer Life Foundation, the not-for-profit research partnership between RGA and Washington University School of Medicine. Dr. Smalley currently lives in Toronto consulting for the insurance industry and is Chief Medical Director for Wamberg Genomic Advisors.

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Genomic Revolution is Here: What an Insurance Professional Needs to Know – Corporate Wellness Magazine

White supremacists are embracing genetic testing – but they aren’t always that keen on the results – New Statesman

The brutal heatwave affecting southern Europe this summer has become known among locals as Lucifer. Having just returned from Italy, I fully understand the nickname. An early excursion caused the beginnings of sunstroke, so we abandoned plans to explore the cultural heritage of the Amalfi region and strayed no further than five metres from the hotel pool for the rest of the week.

The children were delighted, particularly my 12-year-old stepdaughter, Gracie, who proceeded to spend hours at a time playing in the water. Towelling herself after one long session, she noticed something odd.

Whats happened there? she asked, holding her foot aloft in front of my face.

I inspected the proffered appendage: on the underside of her big toe was an oblong area of glistening red flesh that looked like a chunk of raw steak.

Did you injure it?

She shook her head. It doesnt hurt at all.

I shrugged and said she must have grazed it. She wasnt convinced, pointing out that she would remember if she had done that. She has great faith in plasters, though, and once it was dressed she forgot all about it. I dismissed it, too, assuming it was one of those things.

By the end of the next day, the pulp on the underside of all of her toes looked the same. As the doctor in the family, I felt under some pressure to come up with an explanation. I made up something about burns from the hot paving slabs around the pool. Gracie didnt say as much, but her look suggested a dawning scepticism over my claims to hold a medical degree.

The next day, Gracie and her new-found holiday playmate, Eve, abruptly terminated a marathon piggy-in-the-middle session in the pool with Eves dad. Our feet are bleeding, they announced, somewhat incredulously. Sure enough, bright-red blood was flowing, apparently painlessly, from the bottoms of their big toes.

Doctors are used to contending with Google. Often, what patients discover on the internet causes them undue alarm, and our role is to provide context and reassurance. But not infrequently, people come across information that outstrips our knowledge. On my return from our room with fresh supplies of plasters, my wife looked up from her sun lounger with an air of quiet amusement.

Its called pool toe, she said, handing me her iPhone. The page she had tracked down described the girls situation exactly: friction burns, most commonly seen in children, caused by repetitive hopping about on the abrasive floors of swimming pools. Doctors practising in hot countries must see it all the time. I doubt it presents often to British GPs.

I remained puzzled about the lack of pain. The injuries looked bad, but neither Gracie nor Eve was particularly bothered. Here the internet drew a blank, but I suspect it has to do with the pruning of our skin that were all familiar with after a soak in the bath. This only occurs over the pulps of our fingers and toes. It was once thought to be caused by water diffusing into skin cells, making them swell, but the truth is far more fascinating.

The wrinkling is an active process, triggered by immersion, in which the blood supply to the pulp regions is switched off, causing the skin there to shrink and pucker. This creates the biological equivalent of tyre treads on our fingers and toes and markedly improves our grip of great evolutionary advantage when grasping slippery fish in a river, or if trying to maintain balance on slick wet rocks.

The flip side of this is much greater friction, leading to abrasion of the skin through repeated micro-trauma. And the lack of blood flow causes nerves to shut down, depriving us of the pain that would otherwise alert us to the ongoing tissue damage. An adaptation that helped our ancestors hunt in rivers proves considerably less use on a modern summer holiday.

I may not have seen much of the local heritage, but the trip to Italy taught me something new all the same.

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White supremacists are embracing genetic testing – but they aren’t always that keen on the results – New Statesman

Genesis Healthcare, Pioneer in Genetic Health Testing, Announces … – Markets Insider

TOKYO, Aug. 21, 2017 /PRNewswire/ — Genesis Healthcare Co. has announced the completion of a new share issue worth 1.4 billion yen for allotment to Rakuten Inc. Furthermore, Rakuten’s Chairman and CEO will join Genesis Healthcare’s Board of Directors as an External Board Director. As a result of the new stock offering, Genesis Healthcare’s capital has increased to 2.1 billion yen, one of the largest paid-in-capital levels among genetic testing companies in Japan.

Genesis Healthcare, founded in 2004, already manages one of the largest genetic databases in Asia and Japan, with data of approximately 520,000 individuals as of August, 2017, and plans to increase its database size to one million by 2020. While Genesis Healthcare offers various genetic testing services to the government, medical community, academia, industry and consumers, it also offers healthcare and disease prevention test kits and IT services under the consumer brand “GeneLife” in order to enrich people’s lives through personalized genetic testing.

Genesis Healthcare’s Co-Founder and President, Dr. Iri Sato Baran, commented: “The investment by Rakuten, a Japan leader in Internet services, will allow us to increase awareness of genetic information technology through digital healthcare for the betterment of personalized health and self-medication.”

“Forward-thinking technologies like Genesis Healthcare’s genetic health analysis and a deeper understanding of responsible self-medication are essential to finding innovative responses to increasing health costs and the rising awareness of health issues in Japan,” commented the Rakuten Chairman and CEO, Hiroshi “Mickey” Mikitani. “With this investment, we would like to see Genesis Healthcare take a leading role in furthering the understanding and adoption of genetic health testing in Japan.”

Genesis Healthcare plans to use the new funding mainly to promote genetic testing and investment into IT and R&D. It will also continue to accelerate its marketing programs, as well as strengthening recruiting and training efforts. Genesis Healthcare will continue to contribute to improving the quality of life through genetic diagnostic technologies.

About Genesis Healthcare Co.

Co-Founder and President: Dr. Iri Sato BaranCorporate site:

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Genesis Healthcare, Pioneer in Genetic Health Testing, Announces … – Markets Insider