Archive for the ‘Genetic Testing’ Category

(TNS) Incoming House Speaker Chris Sprowls had little trouble Thursday convincing members of a House health-care panel to approve legislation that would prohibit life-insurance, long-term care insurance and disability-insurance companies from using customers genetic information in changing, denying or canceling policies.

Florida would become the first state to have such a law if Sprowls proposal is ultimately passed by the Legislature and signed by Gov. Ron DeSantis.

Members of the House Health & Human Services Committee passed Sprowls bill (HB 1189) without any debate, and committee Chairman Ray Rodrigues, R-Estero, praised Sprowls for introducing the bill.

I think our privacy is important. And I think its equally important to be a visionary, to look forward and I 'm happy that Florida is going to be the state that leads the way on this issue, Rodrigues said.

Insurance industry lobbyists, who opposed the measure, sat quietly, agreeing to waive their speaking time.

Curt Leonard, regional vice president for state relations for the American Council of Life Insurers, said his association had expressed concerns on the issue for the past two years.

Weve expressed our concerns with Speaker Sprowls and other interested parties on this issue going back to 2018. So theres no point in repeating the same things over and over again, in the interest of the committee's time, Leonard said. That being said, we do share the speaker-designates (Sprowls) concerns about privacy. I think it's a concern for everybody.

The bill will have to clear the Commerce Committee before it would be ready to go to the full House. Sprowls, R-Palm Harbor, is slated to become speaker after the November elections.

In addition to preventing insurers from using the information in making policy decisions, Sprowls bill also would block the companies from requiring or soliciting genetic information from applicants.

Sprowls said insurance companies have for years been able to sell policies without having access to the genetic data.

Insurance carriers have been successful without access to genetic information. They have been able to provide affordable coverage to consumers without genetic information. Insurance is about spreading risk, not guaranteeing the outcomes or rewards to the (carriers). And affordable life, disability, and health insurance should not be available simply to the genetic elite, Sprowls said.

While Sprowls influence looms large in the House, he must convince the Florida Senate to go along. For that, Sprowls said he will look to Sen. Kelli Stargel, R-Lakeland, to spearhead the issue.

Senate President Bill Galvano, though, told The News Service of Florida that he supports a potential compromise on the issue.

Leonard said a compromise would authorize consumers to use their private information any way they want to. And that might include them wanting to share their genetic science or genetic testing information, he said. So we dont like the idea that consumers will be handcuffed in how they use that information.

2020 The Orlando Sentinel (Orlando, Fla.) Distributed by Tribune Content Agency, LLC.

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Florida Genetic Information Bill Advances in House - Government Technology

Genetics, gene mutations, and cancer risk

Genetics is the field of science that looks at how traits (such as eye color) are passed down from parents to their children through genes.

Genes are pieces of DNA (deoxyribonucleic acid) inside our cells that tell the cell how to make the proteins the body needs to function. DNA is the genetic blueprint in each cell. Genes affect inherited traits passed on from a parent to a child, such as hair color, eye color, and height. They can also affect whether a person is likely to develop certain diseases, such as cancer.

Changes in genes, called mutations, play an important role in the development of cancer. Mutations can cause a cell to make (or not make) proteins that affect how the cell grows and divides into new cells. Certain mutations can cause cells to grow out of control, which can lead to cancer. Still, only about 5% to 10% of all cancers are thought to be strongly related to an inherited gene mutation.

Usually several gene changes or mutations are needed before a cell becomes cancer.

Most cancers start because of acquired gene mutations that happen during a persons lifetime. Sometimes these gene changes have an outside cause, such as exposure to sunlight or tobacco. But gene mutations can also be random events that sometimes happen inside a cell, without a clear cause.

Acquired mutations only affect the cells that grow from the mutated cell. They do not affect all the cells in the persons body. This means all the cancer cells will have the mutations, but normal cells in the body will not. Because of this, the mutations are not passed on to a persons children.This is very different from inherited mutations, which are in every cell in the body even the cells without cancer.

Genetic testing is the use of medical tests to look for certain mutations in a persons genes. Many types of genetic tests are used today, and more are being developed.

Genetic testing can be used in many ways, but here well focus on its use in looking for gene changes linked to cancer.

Predictive genetic testing is the type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer. This type of testing might be advised:

Most people (even people with cancer) do not need this type of genetic testing. Its usually done when family history suggests theres a cancer that may be inherited (see below).

Sometimes after a person has been diagnosed with cancer, the doctor will do tests on a sample of cancer cells to look for certain gene changes. These tests can sometimes give information on a persons outlook (prognosis) and help tell whether certain types of treatment might be useful.

These types of tests look for acquired gene changes only in the cancer cells that are taken from the patient. These tests are not the same as the tests used to find out about inherited cancer risk.

For more about this kind of testing and its use in cancer treatment, see our information on specific types of cancer.

Genetic counseling and testing may be recommended for people who have had certain cancers or certain patterns of cancer

in their family. If you have any of the following, you might consider genetic testing:

If you are concerned about a pattern of cancer in your family, cancer youve had in the past, or other cancer risk factors, you may want to talk to a health care provider about whether genetic counseling and testing might be a good option for you.

You need to know your family history and what kinds of tests are available. For some types of cancer, no known mutations have been linked to an increased risk. Other cancer types may have known mutations, but theres no way to test for them yet.

Family Cancer Syndromes gives you more information on the types of cancers that may be linked to inherited genes.

Its important to find out how useful testing may be for you before you do it. Talk to your health care provider and plan to meet with a genetic counselor before the actual test. This will help you know what to expect. The counselor can tell you about the pros and cons of the test, what the results might mean, and what your options are.

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Understanding Genetic Testing for Cancer

St. Elizabeth Healthcare

If you could take a simple test that would identify your risks of developing a potentially deadly disease so you could prevent it or treat it sooner, wouldnt you?

A proactive genetic test can do just that. Caroline Ewart, Genetic Counselor in the Center for Precision Medicine and Genomic Health at St. Elizabeth Healthcare, says, Understanding your family tree is important for your future health. Genetics play a big role in what diseases we will develop in the future. The more we understand the family, the more you can proactively do to protect your health.

Many people dont consider genetic testing because they think it is too expensive, not accurate enough, or doesnt screen for the diseases that run in their family. Ewart is helping us bust some of the common myths of genetic testing.

Myth #1: Genetic Testing is Too Expensive

When proactive genetic testing started, it was very expensive, and only a few select laboratories across the country performed the testing. Today, genetic testing is very affordable. Many health insurance companies will provide some coverage for testing, and the laboratories now have a limit on what they can charge.

A proactive screening in the Center for Precision Medicine and Genomic at St. Elizabeth Healthcare is just $395. That includes an initial genetic counseling visit, coordination of blood tests, carrier status screening, and a comprehensive consultation discussing your results. Individuals with a Flexible Spending Account (FSA) or Health Savings Account (HSA) may be able to use these funds to pay for the cost of the screening.

Myth #2: Genetic Testing Only Finds Breast Cancers

Its true, when genetic testing was in its infancy, we only tested for BRCA1 and 2 genes which detect breast and ovarian cancers, says Ewart. But the tests today are far more sophisticated. We now test for over 100 different gene mutations looking for a range of diseases and cancers.

Inherited conditions the tests screen for, include:

Breast cancer

Cardiovascular diseases

Colorectal cancer

Cutaneous melanoma

Gastric cancer

Ovarian cancer

Pancreatic cancer

Renal cell cancer

Thyroid cancer

Myth #3: Genetic Testing Doesnt Help the Treatment of Diseases like Cancer

Genetic testing is used not only to proactively screen for certain diseases, but it is used to treat cancer as well.

If you have been diagnosed with cancer, the gene mutation may guide treatment. It can also help your team manage increased risks of developing other types of cancers, says Ewart.

More importantly, the results of proactive genetic testing can guide your healthcare teams recommendations for screenings of cancer and cardiovascular diseases. This may include starting screenings at an earlier age, increasing the frequency of screenings or suggesting more advance screenings.

By screening early, we can find the disease early, when it is most treatable, says Caroline.

Myth #4: Genetic Testing isnt Accurate

Ewart says, Certainly there are limitations to testing, but our process is more than just a blood test. By gathering a thorough family history we can determine your risk factors for developing certain diseases, even if a blood test comes back negative.

At St. Elizabeth Healthcare, if you are found to be at high risk or test positive for genetic cancers, you are referred to the Heredity Cancer Clinic to develop a plan for future cancer screenings. They may also recommend your family members be tested, so you can get a full picture of your familys health. St. Elizabeth has many types of genetic screenings. To find the one that best fits your needs, pleasestelizabeth.com/dna or call 859-301-GENE (4363).

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Healthy Headlines: Four common myths about genetic testing and why they are not accurate - User-generated content

Published: February, 2020

It's tempting to try a direct-to-consumer (DTC) genetic test kit that predicts your risk for developing certain diseases, like Alzheimer's or Parkinson's. The kit is shipped to your home, where you collect cells (typically with a cheek swab or a saliva collection tube) and then send them to a lab for DNA analysis. But a report from British researchers, published in The BMJ on Oct. 16, 2019, warns that the tests commonly produce misleading predictions of high or low genetic risk for disease. In other words, a positive result for a particular gene doesn't necessarily mean you'll develop a related health problem, and a negative result doesn't automatically mean you'll dodge a particular condition. Study authors say that interpreting genetic data is complex and depends on the context of your individual and family medical history. If you want to try a DTC test, bring the results to your physician for more insight. If your doctor determines that further investigation is warranted, he or she can refer you for genetic testing that's more comprehensive than DTC tests, performed by an accredited laboratory. Those test results may be combined with genetic counseling to help you understand what to expect and what the information might mean for your health or the health of your family members.

Disclaimer:As a service to our readers, Harvard Health Publishing provides access to our library of archived content. Please note the date of last review on all articles. No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.

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Genetic test kits don't have all the answers - Harvard Health

For people like Cassandra Madison, direct-to-consumer genetic testing services from companies like 23andMe and Ancestry.com have proven revolutionary in filling gaps about their family history.

But connecting with biological relatives in cases of adoption or conception through sperm and egg donation doesnt come with a rule book forcing both parties to make difficult, emotional decisions, often on the fly.

Madison, who now lives in Virginia Beach, Va., was adopted as an infant in 1988 from the Dominican Republic by a white American couple. Throughout her life, Madison had little information about her biological family. My mom told me as much as she knew, which was just that they were very poor and couldnt afford to keep me anymore, Madison, 31, said.

Attempts to find more information on her own always proved fruitless. The lawyer in the Dominican Republic who handled Madisons adoption falsified paperwork and lied to adoptive parents about their childrens biological relatives, Madison said. It always became a dead end, Madison said.

Then one Christmas, Madisons mother gifted her with a 23andMe genetic test, so she could learn about her heritage. When she got her test results last January, she was surprised. I didnt know you could find people, she said.

Here is Cassandra Madison meeting her biological family:

When Madison clicked on her results to see her relatives, she found over 1,000 family members had taken the DNA test, which involves spitting in a test tube, including a cousin who lived in Connecticut.

She quickly went about researching him on Facebook FB, +0.17% and soon made contact. Low and behold, 20 minutes later everyone and their brother was messaging me on Facebook, Madison said. Months later, she made the trip down to the Caribbean country, meeting her relatives for the first-time in person.

Also read: 23andMe revealed that my daughter is not mine can I claim back child support from the biological father?

Genetic testing is fast becoming ubiquitous. As of 2018, around 60% of Americans with European heritage were likely identifiable from their DNA via searches of consumer websites from companies like 23andMe and Ancestry.com, regardless of whether they had ever taken a genetic test. One study estimated that around 100 million people will have their DNA mapped by one of these companies by 2021.

In situations where people were adopted or conceived with the assistance of a sperm or egg donor, the services from companies like 23andMe and Ancestry.com have removed the veil of secrecy that long existed over these relationships.

Dont miss: 23andMe can open a Pandoras Box of a familys medical secrets: As hard as it is knowing, not knowing is much worse

Consumer DNA tests have changed whos in power of the information, said Brianne Kirkpatrick, a certified genetic counselor and founder of the counseling firm Watershed DNA.

Historically, mothers typically were the only ones who knew the biological origins of their children. For decades, most adoptions were closed, meaning communication between the biological parents and their child was restricted. In many circumstances, their identities were also hidden.

Until recently, most sperm and egg donors made their donations under the expectation of anonymity.

For those who went through these procedures in the last few decades with the understanding that the donors would be anonymous the rules of the game have changed dramatically and donors are being identified and, in some cases, contacted whether or not they want to be, said Kim Kluger-Bell, a psychotherapist who specializes in infertility counseling. None of the fertility clinics or sperm banks I know of really anticipated this happening.

With so many people having taken tests already, it can be easy for some to find biological relatives. But that, too, can lead to awkward circumstances, particularly when someone connects with a relative other than their biological mother or father or vice-versa.

Ive heard stories of the parents of a sperm donor going on Ancestry.com and identifying a biological grandchild they never knew about it turned out their son had anonymously and privately donated sperm to a friend and agreed not to discuss the matter with anyone else, Kluger-Bell said. The parents of the donor wanted to contact the bio-grandchild and the parents of that child felt that this was completely inappropriate.

Ancestry.com and 23andMe have created resources for people who find themselves in these positions. There are certainly cases where a discovery might be quite unexpected. We take our responsibility towards our customers and the potential impact of complex discoveries very seriously, said Dana Chinnici, communications manager at Ancestry.

Both companies said they have experts on staff who can help customers work through some of the unexpected results they may encounter. 23andMe has a support page for customers and their family to navigate unexpected relationships, a company spokeswoman told MarketWatch.

Additionally, with both companies, customers can opt in or out of being listed as a match with other people.

When Madison was faced with the choice of reaching out to the relatives she connected with via DNA testing, she didnt hesitate. As kids we dont ask to be here, Madison reasoned.

Of course, that approach may not work for everyone. Experts who deal with situations involving adoption, and sperm or egg donation advised patience and caution when reaching out to relatives, but noted that theres not one correct approach.

There is no one size fits all scenario, said Amy Johnson Crow, a certified genealogist. Its important for the person making the contact to realize that the contact might not be welcomed. Although we all have a right to know our genetic history, we cannot force that biological parent to talk or to have a relationship.

Read more: I discovered through Ancestry.com that my biological father is someone else can I claim an inheritance as his heir?

Heres expert advice on the etiquette surrounding establishing contact:

Give the other person space: These revelations can have major ripple effects for other people, and so it may take time for the person to respond. Remember contact starts with knowing very little of each other and, like any other relationship, needs to grow and build over time. Genetics confers relatedness but not relationships, Braverman said.

Understand potential legal ramifications: Reaching out to a biological relatives through 23andMe or Ancestry.com could violate the terms of an adoption or sperm/egg donation agreement. One woman was threatened with a $20,000 fine after reaching out to the biological grandmother of her daughter who was born via sperm donation.

Establishing contact could leave you vulnerable to lawsuits, so before doing so its important to review the terms of these agreements in advance.

Consider hiring a professional: DNA tests are far from the only route toward discovering ones biological relatives. Genetic counselors and genealogists can assist in uncovering a persons family without these services. Moreover, these professionals can serve as an intermediary in establishing first contact with ones biological family. Kirkpatrick has served as an intermediary for clients in the past and said it can help slow down the process. Creating that buffer of space and time can ultimately lead to things going well in the end, she said.

An intermediary can also help in retrieving information from a biological relative, such as a family medical history, in instances where they do not desire further contact. Of course, this can come with trade-offs. Using an intermediary removes the pressure of an immediate response but also removes the real voice that is reaching out, Braverman said.

Keep your expectations in check: Having too high of expectations from the outset can easily lead to disappointment. To that end, experts suggested doing some self-reflection to understand what an adoptee or individual conceived via sperm or egg donation wants out of a possible connection, whether it be a relationship or something more simple like a family medical history.

Avoid making assumptions about what this biological relationship may mean to the other person, said Andrea Mechanick Braverman, a clinical professor of obstetrics and gynecology at Thomas Jefferson University.

When Madison eventually made contact with her biological family in the Dominican Republic, joy was quickly met with sadness. She found out that her birth mother had already passed away. Additionally, she also found that some of her relatives were more interested in how much money she had than in forming more meaningful relationships with her. For those and other reasons, Madison said she would not have been able to handle this whole experience without the support of a therapist.

Despite this, Madison said she doesnt regret taking the DNA test or establishing contact with her biological family. Im learning a whole other side of me and can embrace it, she said. It was the best thing to go down there and to have people say, Oh my God, you look just like your mother.

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Everyone and their brother was messaging me on Facebook. DNA tests reveal long-lost relatives, but the rest is a minefield - MarketWatch

CHICAGO (CBS) Despite exhaustive work by detectives, the murder of Pamela Maurer was left unsolved for more than four decades. Last year, a relatively new form of genetic sleuthing began to put together the pieces of the mystery in a matter of days.

DuPage County investigators provided genetic material preserved from the Maurer crime scene to Maryland-based Parabon NanoLabs. Pamelas body was found in Lisle in January of 1976. She had been sexually assaulted and strangled. She was last seen alive the night before her body was found, when she told friends she was going to a restaurant to buy a soft drink.

First, Parabon, led by chief genetic genealogist CeCe Moore, used the DNA to create a snapshot genotypewhich predicts a persons physical traits, such as eye, skin and hair color, and even the shape of a face.

The composite created from that test looks remarkably similar to Bruce Lindahl, a suspected serial killer who police now say killed Maurer. Lindahl died in 1981.

But the testing didnt stop with just a picture. The hard work had only just begun.

Moores team used the DNA to reverse engineer Lindahls family tree.

Parabon loaded the DNA sample from the Maurer crime to a website called GEDmatch and began a form of genetic treasure hunting. GEDMatch is a site where users can upload their genetic testing results, done by companies like 23AndMe and Ancestry.

Typically, Moore said, they find similar DNA from distant cousins of a suspect and build back from there.

We are looking just for people who are second, third, fourth, fifth cousins and beyond, Moore said. Typically we are not getting close matches to close family members.

Basically, Parabon is reverse engineering the family tree of the suspect based on who they are sharing DNA with, Moore said.

Moore said she found multiple distant cousins that led to Lindahl, up to 20 matches and put those puzzle pieces together.

It is almost never a single match that leads to an identity. Its a group of matches to see how they all connect to each other.

My work, and my teams work is really about providing answers to these families for years and decades, Moore said.

She said part of the hunt is luck. In this case, the data allowed them to find a suspected match to Lindahl in a few days.

But Parabons work didnt solve the case. Detectives still needed more proof. So, they got a court order to exhume Lindahls body and extract DNA from his remains.

The result was a match.

The odds of the DNA belonging to somebody else are 1 in 1.8 quadrillion, DuPage County States Attorney Robert Berlin said this week.

This was the second case Parabon has done in Illinois, but the first in the Chicago area.

Last year, Moores work led to murder charges against Michael Henslick, who police say killed Holly Cassano. She was found fatally stabbed in her home in Mahomet, Ill., on Nov. 2, 2009.

That case is expected to go to trial next month, Moore said. Parabon has so far worked on 93 cases with police across the country in the past two years. The most famous charges against the suspected Golden State Killer, Joseph James DeAngelo.

Critics find the practice controversial and a potential invasion of private DNA data. Moore says the benefit to the public, ensuring that killers are put behind bars, and the fact that families get some resolution, far outweigh those concerns.

I feel that the good that has been done is really immeasurable to public safety, Moore said.

Lindahl died at age 28 in 1981 after he bled to death while stabbing another victim, Charles Huber. The coroner said his knife wounds were accidentally self inflicted.

RELATED: Those Who Remember Lindahl Say He Gave Them The Creeps

Police now say he may have killed at least two other women.

Lindahl was charged with raping Deborah Colliander, who manged to escape from the attack. However, two weeks before Lindahls trial, Colliander disappeared after leaving her job at a hospital.

The case against Lindahl was dropped.Collianders body was found on April 28, 1982in a field on Oswego Township.

Investigators also think Lindahl may have something to do with the disappearance of Deborah McCall, a student at Downers Grove North. She was last seen alive in November 1979. Photos of her were found in one of Lindahls residences.

And there may be other victims in the 1970s and before his death, police said. The new evidence will be used to open additional investigations.

Investigators set up two tip lines: (630) 407-8107 (DuPage States Attorney) and (630) 271-4252 (Lisle police).

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The Case Of Pamela Maurers Murder Went Cold For Decades, Then Genetic Sleuthing By Parabon Helped Crack It - CBS Chicago

The personal, the political, and the science of ancestry tests.

Palestinian-American cartoonist and illustrator MargueriteDabaiespat into a test-tube and sent her DNA off to the genetic testing company, 23andMe.

To her surprise the results told her somethingsignificantlydifferent to what she understood about herself and her family.

Then, two years later, 23andMe sent her an update, andthe resultsradicallychanged.

Whats going on? And, with what consequences?Is genomic science way too white?

This is one of your and our favourite Science Friction features from the year for ABC RN's Summer Season.

One of your and our favourite Science Friction programs from 2019 for the RN Summer Season.

GUESTSMargueriteDabaieCartoonist and illustrator, New YorkDr Joanna MountainSenior Director of Research23andMe, USAProfessor SarahTishkoffDavid and LynSilfenUniversity Professor in Genetics and BiologyUniversity of Pennsylvania, USA

FURTHER INFORMATION23andMe doesnt know what makes a PalestinianCartoon by MargueriteDabaie(The Nib, 2019)

23andMes Global Genetics Project

The missing diversity in human genetics studiesGiorgioSirugo, Scott M. Williams, Sarah A.TishkoffCell,177, March212019

Presenter:Natasha Mitchell

Producers:Natasha Mitchell and Jane Lee

Sound engineer:Ariel Gross

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Do genetic ancestry tests know if you're Palestinian? A cautionary tale of race and science - ABC News

The autopsies didn't offer any clues. The children's hearts appeared normal. The family had what they referred to as "the curse of sudden death." And medical examiners couldn't figure out why.

After the deaths of the first two children, a medical examiner who conducted the autopsies got in touch with researchers at the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory in 2004. Researchers at the lab had pioneered the concept of molecular autopsy, using genetic testing to understand the cause of death in sudden unexplained cases, and the examiner wanted to see if they could shed light on the mystery affecting the Amish community.

The team suspected that a gene called RYR2 could be the culprit -- mutations of the gene can cause a cardiac arrhythmic disorder that can lead to exercise-fainting spells, seizures or even sudden cardiac death. But when they analyzed the gene to check for mutations, nothing turned up.

The case remained cold for more than a decade. As the years went by, pediatric cardiologists and genetic counselors from other parts of the country reached out to the lab about other Amish families whose children had also died sudden deaths -- all looking for answers about this heartbreaking phenomenon.

"As we started building out the family structure, it became apparent to us that this was most likely a recessive disorder," David Tester, the lead scientist on the case, told CNN. "With more information and more technological advancement in terms of being able to look at genes, we were able to put this puzzle together."

The children likely had a common ancestor

Turns out, it was RYR2 -- the gene the researchers had suspected all along. But there wasn't just one mistake in the gene. More than 300,000 base pairs in the gene had been duplicated.

"We finally figured it out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose," Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, told CNN.

To develop the duplication that causes sudden death, a child has to inherit a mutated gene from each parent -- the chances of which are 25 percent. That four children in one family inherited the mutation and died sudden deaths is incredibly unfortunate, Ackerman said.

The Amish may be more vulnerable to recessive inherited conditions because they are descended from a small number of ancestors and tend to intermarry, Tester said. The two families studied in the report are seemingly unrelated, but because the children all had the exact same duplication in a gene inherited from both parents, Ackerman said that it's likely that they have a common ancestor.

The discovery can help prevent sudden death

Now that researchers know about this genetic marker, there are steps that medical professionals can take to prevent sudden deaths from occurring in other Amish children, Tester said.

"Having this genetic biomarker, we can now very easily test any individual for the presence of the mutation," he said. "Having that ability can potentially save lives."

Knowing who has the mutation and who doesn't is the first step to preventing tragedies like the ones experienced by the families in the study, Ackerman said. If adults who are carriers for the mutation know that they have it, they can make informed decisions about whether or not they should marry another person who is also a carrier.

There are still challenges ahead. For children who have inherited the mutation and are at risk of sudden death, the only solution to prevent it is an implantable cardioverter defibrillator (ICD), which can be extremely expensive. Ackerman said his team is working on understanding more about what causes the duplication in the gene so that a medication to prevent it can be developed, a treatment that would be much more accessible.

"We're going fast and furious to try to get this figured out for this Amish community," he said.

But for now, Ackerman hopes the discovery will provide some closure to the families who have lost their loved ones.

"We finally have figured out the curse of sudden death for the Amish community and they now have peace of mind as to the reason," he said.

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No one knew why the kids in 2 Amish families were dying suddenly. Now researchers have some answers - CNN

By Ashleigh Stewart, Cronkite News | Wednesday, Jan. 15, 2020

PHOENIX Every two minutes, a woman in the U.S. is diagnosed with breast cancer, according to the National Breast Cancer Foundation, but thanks in large part to early detection, breast cancer death rates have dropped 40% since 1989.

Genetic testing has emerged as an invaluable tool in the early detection of breast cancer, which is hereditary in 10% to 15% of cases. A genetic marker was identified in the 1990s: mutations in BRCA genes 1 and 2, which produce tumor suppressor proteins.

According to the National Breast Cancer Foundation, an estimated 41,760 women died of breast cancer in the U.S. in 2019. The final number has not yet been released.

Many generations and many with the same type of cancer, that should set off an alarm bell in that family, said Dr. Donald Northfelt, oncologist at the Mayo Clinic Breast Clinic in Phoenix.

People inherit BRCA gene mutations from either the mother or father, and those changes are implicated in breast and ovarian cancers. Any cell in the body can be tested for that mutation. Its typically done by taking a blood or saliva sample and sending it to a laboratory for panel testing.

Patients at the Mayo Clinic are referred to a genetics counselor as the first step in obtaining BRCA testing. Northfelt wants patients to be fully informed of the circumstances that may arise from the test result.

HonorHealth, a health care system based in Phoenix, takes a similar approach.

Its going to have implications for your family members because we might still want to test other people that could be at risk for genetic mutation even if you tested negative, said Madison Lafleur, a genetics counselor at HonorHealth.

She said HonorHealth has patient assistance programs and can help cover the cost of the appointment. However, the biggest barrier to accessibility is the lack of genetic counselors and the waiting list that creates.

How will this testing affect family members, and what can we do to hopefully put them at ease? Lafleur asked. If they get a positive result, how can we work with them to get them through the initial shock and make sure they are getting the correct screening that they need?

Genes arent the only risk factor for cancer, the National Cancer Institute said. Changes in lifestyle particularly quitting smoking and eating habits also help to prevent cancer.

Follow Cronkite News on Twitter.

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Genetic testing helps in the early detection of breast cancer - Cronkite News

Over the past two decades, the field of medical genomics underwent nothing less than a revolution in terms of both technological advancement and accumulated knowledge. This revolution holds the promise of changing the entire medical practice, and while the industrycontinues to improve genome sequencing technologies and decrease the price of sequencing a genome, other challenges are lurking that hinder the prospects of this revolution and undermine the efforts of wide-scale integration of genomics into mainstream medicine.

To emphasize this point further, even though the technologies to help diagnose patients with rare genetic diseases exist, the rate of underdiagnoses and misdiagnoses is still alarmingly high, and patients who receive diagnoses end up waiting too long for them, sometimes years. These extensive diagnostic journeys directly impact the ability to recruit patients for clinical trials, and thus the ability to develop more treatments for rare diseases. To date, only 5% of more than 7,000 known rare genetic diseases have FDA-approved treatments.

At my company, a leading digital health company, our mission is to end the diagnostic odyssey for undiagnosed pediatric patients with rare diseases. I've seen that the main contributors to this state of affairs are the excruciatingly long wait times for genetics appointments, coupled with the significant workforce shortage of experts in the field.

To reach more than 400 million patients globally (50% of whom are estimated to be young kids) with earlier intervention to improve outcomes and help many of them live relatively healthy and productive lives, the diagnosis must shift from the geneticists clinic to the primary point of care, or at least it must be initiated much earlier by primary care physicians.

Without adopting technological solutions that will support the integration of genomics into mainstream medicine, genomics will never live up to its promise and become a standard of care. In my opinion, realizing that vision will be a balancing act between the affordability for payers, accessibility for providers and actionability for patients, and it will depend on technological solutions combining AI-based phenotyping, as well as connecting front-line providers with human experts in genetics, alongside the most advanced genome sequencing technologies.

High Throughput Genetic Testing

As noted, genome sequencing technologies have made huge strides over the last two decades. The affordability of genomics is now increasingly dependent on the ability to sift through and interpret vast amounts of data produced from a genome, and to determine which data is pertinent for a medical diagnosis and for disease treatment a task fitting for AI.

Indeed, in the last few years, we have witnessed many AI-driven solutions sprouting to address this problem. Some of these solutions are home-grown, in leading laboratories such as Invitae, GeneDx and PerkinElmer Genomics. (Full disclosure: PerkinElmer Genomics uses FDNA's technology in its genetic analysis.) Others are developed as software platforms by vendors such as Sophia Genetics, Fabric Genomics, Congenica and Emedgene.

Harnessing AI to perform data analysis challenges has proven to be very successful and is a direct contributor to the affordability of genetic testing today, as well as the gradually increasing rate of reimbursement by payers. I believe AI will continue to play a key role in driving down prices to the $100 range, which will make genomics extremely affordable, both for health systems and for individuals paying out-of-pocket.

Phenotyping Driven By AI

AIs impact goes far beyond applying machine learning algorithms that sift through genetic variations and proprietary knowledge bases of pathogenicity. As more OMICS technologies stack up with genomics, and more AI modalities like natural language processing and computer vision image analysis are integrated directly into the genome analysis pipeline, we will see an increasing standardization of data across disparate data silos and a closing of the genotype-phenotype gap between the clinic and the lab. This trend will drive genomic data to become more actionable for patients and allow them to make informed decisions about their health.

Much of todays phenotyping is performed by humans and is inherently subject to biases such as age, gender and ethnicity. If we approach this problem with legal and ethical rigor, care and are cautious of patient privacy, and with respect to the providers and their workflow, AI could enhance human skills and capabilities. I think that helping primary care providers collect, structure and analyze phenotypic information of patients with rare diseases is an area worth prioritizing.

Connecting The Expert Community

Finally, technology is more than AI. Technology is also an enabler for fostering connections and interactions between humans. Some tasks in practicing medicine must be left to humans, but even then, technology can assist. An alternative abbreviation of AI (augmented intelligence) is my preferred one. It implies a symbiotic relationship between people and machines, making each other stronger, rather than threatening to replace each other.

Tailoring a solution combining all three components (genomics, AI-based phenotyping and community connection) like the one described above is not an easy task, and it depends on the ability of stakeholders from many disciplines to work together, share data and collaborate on research and development.

To achieve this, a best-of-breed approach should be taken, and not only should data be shared, but a global collaboration between commercial companies, academic research institutions and caregivers should occur. The integrity of the data, ethical and privacy policies, and trust in workflow should be established. This requires an open dialogue between all parties involved, as well as a fast-pace framework to allow developers to move quickly in building these tools.

Certainly, working with different stakeholders with sometimes conflicting interests is challenging, but the one common goal we all have is helping patients, especially kids with rare and undiagnosed genetic diseases.

Read more here:
Access And Actionability Are Key For Genetic Testing And Precision Medicine - Forbes

Users pay 100 to the Silicon Valley company 23andme for a breakdown of their ancestryALAMY

The ancestry company 23andme has become the worlds first genetics testing firm to create a drug created from its customers DNA samples.

The Silicon Valley company has developed and sold a drug designed to treat inflammatory diseases such as psoriasis. It is based on its database of around 10 million DNA samples it has collected since it was founded in 2006.

23andme has sold the rights to the drug to the Spanish pharmaceutical company Almirall for an undisclosed sum.

The companys chief executive is Anne Wojcicki, whose sister, Susan, is the chief executive of YouTube and whose ex-husband Sergey Brin is the co-founder of Google.

It is one of several genetics companies that offers home testing kits which allow people to get a breakdown of

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Genetic testing firm 23andMe is first to create a drug using its customers' DNA - The Times

By Jacob Passy

Published: Jan 15, 2020 12:49 pm ET

Cassandra Madison (second from right) is shown here with her biological father and some of her biological siblings. She met them for the first time last year after taking a 23andMe DNA test.

For people like Cassandra Madison, direct-to-consumer genetic testing services from companies like 23andMe and Ancestry.com have proven revolutionary in filling gaps about their family history.

But connecting with biological relatives in cases of adoption or conception through sperm and egg donation doesnt come with a rule book forcing both parties to make difficult, emotional decisions, often on the fly.

Cassandra Madison, 31, who used 23andMe to find her biological family

Madison, who now lives in Virginia Beach, Va., was adopted as an infant in 1988 from the Dominican Republic by a white American couple. Throughout her life, Madison had little information about her biological family. My mom told me as much as she knew, which was just that they were very poor and couldnt afford to keep me anymore, Madison, 31, said.

Attempts to find more information on her own always proved fruitless. The lawyer in the Dominican Republic who handled Madisons adoption falsified paperwork and lied to adoptive parents about their childrens biological relatives, Madison said. It always became a dead end, Madison said.

Then one Christmas, Madisons mother gifted her with a 23andMe genetic test, so she could learn about her heritage. When she got her test results last January, she was surprised. I didnt know you could find people, she said.

Here is Cassandra Madison meeting her biological family:

When Madison clicked on her results to see her relatives, she found over 1,000 family members had taken the DNA test, which involves spitting in a test tube, including a cousin who lived in Connecticut.

She quickly went about researching him on Facebook FB+0.66%and soon made contact. Low and behold, 20 minutes later everyone and their brother was messaging me on Facebook, Madison said. Months later, she made the trip down to the Caribbean country, meeting her relatives for the first-time in person.

Also read: 23andMe revealed that my daughter is not mine can I claim back child support from the biological father?

Cassandra Madison describing what happened after she conducted a DNA test and contacted a relative

Genetic testing is fast becoming ubiquitous. As of 2018, around 60% of Americans with European heritage were likely identifiable from their DNA via searches of consumer websites from companies like 23andMe and Ancestry.com, regardless of whether they had ever taken a genetic test. One study estimated that around 100 million people will have their DNA mapped by one of these companies by 2021.

In situations where people were adopted or conceived with the assistance of a sperm or egg donor, the services from companies like 23andMe and Ancestry.com have removed the veil of secrecy that long existed over these relationships.

Dont miss: 23andMe can open a Pandoras Box of a familys medical secrets: As hard as it is knowing, not knowing is much worse

Consumer DNA tests have changed whos in power of the information, said Brianne Kirkpatrick, a certified genetic counselor and founder of the counseling firm Watershed DNA.

Historically, mothers typically were the only ones who knew the biological origins of their children. For decades, most adoptions were closed, meaning communication between the biological parents and their child was restricted. In many circumstances, their identities were also hidden.

Kim Kluger-Bell, a psychotherapist who specializes in infertility counseling

Until recently, most sperm and egg donors made their donations under the expectation of anonymity.

For those who went through these procedures in the last few decades with the understanding that the donors would be anonymous the rules of the game have changed dramatically and donors are being identified and, in some cases, contacted whether or not they want to be, said Kim Kluger-Bell, a psychotherapist who specializes in infertility counseling. None of the fertility clinics or sperm banks I know of really anticipated this happening.

With so many people having taken tests already, it can be easy for some to find biological relatives. But that, too, can lead to awkward circumstances, particularly when someone connects with a relative other than their biological mother or father or vice-versa.

Ive heard stories of the parents of a sperm donor going on Ancestry.com and identifying a biological grandchild they never knew about it turned out their son had anonymously and privately donated sperm to a friend and agreed not to discuss the matter with anyone else, Kluger-Bell said. The parents of the donor wanted to contact the bio-grandchild and the parents of that child felt that this was completely inappropriate.

Ancestry.com and 23andMe have created resources for people who find themselves in these positions. There are certainly cases where a discovery might be quite unexpected. We take our responsibility towards our customers and the potential impact of complex discoveries very seriously, said Dana Chinnici, communications manager at Ancestry.

Both companies said they have experts on staff who can help customers work through some of the unexpected results they may encounter. 23andMe has a support page for customers and their family to navigate unexpected relationships, a company spokeswoman told MarketWatch.

Additionally, with both companies, customers can opt in or out of being listed as a match with other people.

Amy Johnson Crow, a certified genealogist

When Madison was faced with the choice of reaching out to the relatives she connected with via DNA testing, she didnt hesitate. As kids we dont ask to be here, Madison reasoned.

Of course, that approach may not work for everyone. Experts who deal with situations involving adoption, and sperm or egg donation advised patience and caution when reaching out to relatives, but noted that theres not one correct approach.

Cassandra Madison, who was adopted as an infant, met her biological father (pictured here) for the first time last March after connecting with other blood relatives through 23andMe.

There is no one size fits all scenario, said Amy Johnson Crow, a certified genealogist. Its important for the person making the contact to realize that the contact might not be welcomed. Although we all have a right to know our genetic history, we cannot force that biological parent to talk or to have a relationship.

Read more: I discovered through Ancestry.com that my biological father is someone else can I claim an inheritance as his heir?

Heres expert advice on the etiquette surrounding establishing contact:

Give the other person space: These revelations can have major ripple effects for other people, and so it may take time for the person to respond. Remember contact starts with knowing very little of each other and, like any other relationship, needs to grow and build over time. Genetics confers relatedness but not relationships, Braverman said.

Understand potential legal ramifications: Reaching out to a biological relatives through 23andMe or Ancestry.com could violate the terms of an adoption or sperm/egg donation agreement. One woman was threatened with a $20,000 fine after reaching out to the biological grandmother of her daughter who was born via sperm donation.

Establishing contact could leave you vulnerable to lawsuits, so before doing so its important to review the terms of these agreements in advance.

Consider hiring a professional: DNA tests are far from the only route toward discovering ones biological relatives. Genetic counselors and genealogists can assist in uncovering a persons family without these services. Moreover, these professionals can serve as an intermediary in establishing first contact with ones biological family. Kirkpatrick has served as an intermediary for clients in the past and said it can help slow down the process. Creating that buffer of space and time can ultimately lead to things going well in the end, she said.

An intermediary can also help in retrieving information from a biological relative, such as a family medical history, in instances where they do not desire further contact. Of course, this can come with trade-offs. Using an intermediary removes the pressure of an immediate response but also removes the real voice that is reaching out, Braverman said.

Keep your expectations in check: Having too high of expectations from the outset can easily lead to disappointment. To that end, experts suggested doing some self-reflection to understand what an adoptee or individual conceived via sperm or egg donation wants out of a possible connection, whether it be a relationship or something more simple like a family medical history.

Avoid making assumptions about what this biological relationship may mean to the other person, said Andrea Mechanick Braverman, a clinical professor of obstetrics and gynecology at Thomas Jefferson University.

When Madison eventually made contact with her biological family in the Dominican Republic, joy was quickly met with sadness. She found out that her birth mother had already passed away. Additionally, she also found that some of her relatives were more interested in how much money she had than in forming more meaningful relationships with her. For those and other reasons, Madison said she would not have been able to handle this whole experience without the support of a therapist.

Despite this, Madison said she doesnt regret taking the DNA test or establishing contact with her biological family. Im learning a whole other side of me and can embrace it, she said. It was the best thing to go down there and to have people say, Oh my God, you look just like your mother.

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Everyone and their brother was messaging me on Facebook. DNA tests reveal long-lost relatives, but making contact is a minefield - MarketWatch

By Caitlin O'Hara for UCSB Arts & Lectures | January 15, 2020 | 9:00 a.m.

UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara co-present Understanding Genetics and Cancer, a free community event featuring Mary-Claire King, the scientist who discovered the BRCA1 gene,7:30 p.m. Thurs., Feb. 6, at UCSB Campbell Hall.

King's lecture will be followed by a panel of experts discussing genetics, cancer and you, providing resources and answering pertinent questions

UCSB Arts & Lectures and the Santa Barbara Cancer Foundation will present a free community event Understanding Genetics and Cancer, featuring a lecture by human geneticist Mary-Claire King, the scientist who discovered the BRCA1 gene.

Her talk, at 7:30 p.m. Thursday, Feb. 6, at UCSB Campbell Hall, will be followed by a panel of experts discussing genetics, cancer and you.

King discovered the genetic mutation responsible for breast cancer, a finding that has revolutionized the course of cancer research and transformed the way patients are diagnosed and treated.

A recipient of the National Medal of Science for her bold, imaginative and diverse contributions to medical science and human rights, Dr. King will discuss the genetics of inherited cancers.

Following the talk, a panel of experts will address genetics, cancer and you, including the following topics:

Lifestyle and cancer risk reductionFamily history and ethnicity risk factorsGenetic testing as cancer preventionPrivacy of genetic testing resultsBenefits and perils of ancestry testingLocal resources for cancer risk assessment and counseling

King is American Cancer Society professor in the Department of Medicine and the Department of Genome Sciences at the University of Washington in Seattle. She was the first to show that breast cancer is inherited in some families, as the result of mutations in the gene that she named BRCA1.

In addition to inherited breast and ovarian cancer, her research interests include the genetic bases of schizophrenia, the genetic causes of congenital disorders in children, and human genetic diversity and evolution.

King pioneered the use of DNA sequencing for human rights investigations, developing the approach of sequencing mitochondrial DNA preserved in human remains, then applying this method to the identification of kidnapped children in Argentina and subsequently to cases of human rights violations on six continents.

King grew up in Chicago. She received her bachelor's degree cum laude in mathematics from Carleton College in Northfield, Minn.; her doctorate in genetics from the University of California at Berkeley; and her postdoctoral training at UC San Francisco.

Her Ph.D. dissertation with Allan Wilson was the demonstration that protein-coding sequences of humans and chimpanzees are 99 percent identical. She was professor at UC Berkeley from 1976-95 and at the University of Washington in Seattle since 1995.

King has served on multiple councils and study sections of the N.I.H. and the U.S. National Academy of Sciences. She was consultant to the Commission on the Disappearance of Persons of the Republic of Argentina and carried out DNA identifications for the United Nations War Crimes Tribunals.

She is past president of the American Society of Human Genetics and a past member of the Council of the National Academy of Sciences. King has been elected to the American Academy of Arts and Sciences, the National Academy of Medicine, American Philosophical Society, and as a foreign member of the French Academy of Sciences.

Understanding Genetics and Cancer is co-presented by UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara in association with Breast Cancer Resource Center, Ridley-Tree Cancer Center at Sansum Clinic, Santa Barbara Neighborhood Clinics and UCSB Department of Molecular, Cellular and Developmental Biology.

Sponsored by the Cancer Foundation of Santa Barbara, supporter of the Ridley-Tree Cancer Center and its Genetic Counseling Program.

For more, call UCSB Arts & Lectures, 805-893-3535 or visit http://www.ArtsAndLectures.UCSB.edu.

UCSB Arts & Lectures acknowledges Community Partners the Natalie Orfalea Foundation & Lou Buglioli and Corporate Season Sponsor SAGE Publishing for their support of the 2019-20 season.

Caitlin O'Hara for UCSB Arts & Lectures.

Continued here:
Scientist Who Discovered BRCA1 Gene to Give Free Talk on Cancer And Genetics - Noozhawk

The "Gene Panel Market by Product and Geography - Forecast and Analysis 2020-2024" report has been added to ResearchAndMarkets.com's offering.

Global Gene Panel Market: About this market

The gene panel market analysis considers sales from small panel testing and large panel testing products. Our study also finds the sales of gene panels in Asia, Europe, North America, and ROW. In 2019, the small panel testing segment had a significant market share, and this trend is expected to continue over the forecast period. Factors such as the rising need to identify a known gene mutation will play a significant role in the small panel testing segment to maintain its market position. Also, our global gene panel market report looks at factors such as the growing use of gene panels in cancer-targeted therapies, increasing the number of people with genetic disorders, and decreasing the cost of NGS gene panel tests. However, challenges in implementing large NGS gene panels, lack of effective treatment for several genetic mutations, and the growing complexity of gene panel tests may hamper the growth of the gene panel industry over the forecast period.

Global Gene Panel Market: Overview

Growing use of gene panels in cancer-targeted therapies

Pharmaceutical companies are investing heavily in research activities to develop targeted therapies for the treatment of cancer. This is driving the demand for gene panels as they are used in the development of targeted therapies for cancer. Gene panel testing provides a wide range of benefits such as providing the genetic basis of an individual's response to therapy. NGS-based gene panel tests are becoming popular as the first choice for cancer care as they are cost-effective, provide genomic data in a brief time, and examine only clinically important genes. This is driving the use of gene panels to evaluate effective treatments for cancer, which will lead to the expansion of the global gene panel market at a CAGR of about 18% during the forecast period.

Rising use of direct-to-consumer tests

The global gene panel market is expected to benefit from the increase in the use of direct-to-consumer tests. In this method, commercial laboratories provide genetic testing directly to consumers without the involvement of a healthcare professional or an authorization for payment by a third-party payer. The easy access and the increasingly affordable options associated with direct-to-consumer genomic testing have helped the technique gain significant popularity over the recent years. This development is expected to have a positive impact on the overall market growth.

Key Topics Covered:

PART 01: EXECUTIVE SUMMARY

PART 02: SCOPE OF THE REPORT

PART 03: MARKET LANDSCAPE

PART 04: MARKET SIZING

PART 05: FIVE FORCES ANALYSIS

PART 06: MARKET SEGMENTATION BY PRODUCT

PART 07: CUSTOMER LANDSCAPE

PART 08: GEOGRAPHIC LANDSCAPE

PART 09: DECISION FRAMEWORK

PART 10: DRIVERS AND CHALLENGES

PART 11: MARKET TRENDS

PART 12: VENDOR LANDSCAPE

PART 13: VENDOR ANALYSIS

For more information about this report visit https://www.researchandmarkets.com/r/xlv30k

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Global Gene Panel Market Expected Expansion with a CAGR of Around 18% During the Forecast Period, 2020-2024 - ResearchAndMarkets.com - Yahoo Finance

When you grow up without a dad; just imagine theres no daddy-daughter dance, theres no walking you down the aisle, theres no dad protecting you. Its just something thats been a huge part of my life.

April Ciarlones mother gave her a 23andMe DNA genetic testing kit last year, hoping it would lead Ciarlone to her birth father. The present turned into an even larger gift a close relationship with her dad, 47 years after her birth.

April Ciarlone, second from left, has even more to love: her brother, Chase Oldham, left; her father, Barry Oldham; and her sister, Alicia Neely.

The Ocoee woman never knew her father, and James Barry Oldham never knew he had a daughter. But all that changed last April when she received her DNA test results and discovered a familial match. With trepidation, Ciarlone reached out and learned the match was her paternal aunt.

This led to the discovery that she has a big family, including her dad, a half- brother and -sister and a bonus mom, in Decatur, Alabama.

YOUNG LOVE

Ciarlones mother, now Donna Hirst, of Milton, was living in Alameda, California, when she met Oldham. She was a high school student; he was about five years older and stationed at the Naval Air Station Alameda. They met in the neighborhood, where she lived at home with her parents and he lived with a roommate in an apartment across the street.

They struck up a conversation, which led to a friendship, which led to something more. When Hirst discovered she was pregnant with Oldhams child, he already had been sent to Vietnam and she had no way of contacting him.

Hirst was 19 when April was born in 1972. Oldham was fighting in a war and didnt know he had a daughter and he wouldnt learn of her existence for more than four decades.

Hirst moved on, met and married another man and gave birth to a son.

Ciarlone grew up with her mother and brother, Rick Snurkowski. As an adult, though, she knew something was missing, and she wanted to know more about her father.

ITS A MATCH

Oldham had a 23andMe testing kit, but he had yet to submit his DNA. After his sister and Ciarlone were matched, he immediately sent it in but had to anxiously wait more than a week for the results.

During that time, my emotions were everywhere, he said. My family was very supportive during that time. When the final results arrived, I opened it up to see a beautiful, brunette female that looked like my sisters! Beside it was the word DAUGHTER! My wife and I looked at each other because we had already decided that if this was true, it was Gods will.

April Ciarlone celebrated her birthday with her father, Barry Oldham, for the first time last summer.

While Oldham, now 70, is upset to have missed out on a good portion of her life, he said he understands the situation. Ciarlone said he was more upset that she didnt have her dad in her life growing up.

MORE TO LOVE

With all that behind them, the new family has been meeting frequently and getting to know one another. She spent her first Thanksgiving with them in November.

Ciarlone said she talks to her stepmother, Connie Oldham, several times a week and is grateful for her acceptance. More importantly, the family has formed a bond with Ciarlones daughter, Giannah, who is 12 and has autism.

Connie Oldham is a retired special-needs teacher who worked with children with autism for 40 years another gift, Ciarlone said.

Shes so great with Giannah, she said. Jesus was watching.

Giannah is having fun getting to know her cousins and grandparents.

Barry Oldham and Hirst had not been in contact since he left for Vietnam, but he had one simple message for his daughters mother: I just want you to know youve raised a wonderful woman.

The more the father and daughter talk, the more they realize they have in common.

April Ciarlone, left, and her father, Barry Oldham, favor each other in their second grade photos.

April and I both have a Type A personality, were neat and organized, love music and enjoy an occasional cocktail, Barry Oldham said. All three siblings are health conscious and work out on a regular basis like me. Each of them also likes to have the last word!

Ciarlone said she has noticed small similarities, too, besides the strong physical resemblance to her dad and younger siblings, Alicia Neely and Chase Oldham, such as their tendency to be bullheaded, the way she and her brother like their coffee and their affinity for pickles.

When the family isnt together, there are frequent texts, calls and FaceTime sessions.

April and I are very comfortable in our relationship, Barry Oldham said. I feel that we will continue to grow closer as time goes by. Its like my family has come full circle. April and Giannah complete that circle.

For Ciarlone, her circle now is complete, too.

23andMe changed my life, Ciarlone said. My prayers of finding my father (have) come true. I get to say Dad every day. ... This is my miracle.

Barry Oldham finally has his three children together: April Ciarlone, Chase Oldham and Alicia Neely.

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DNA test connects Ocoee resident with father - West Orange Times & Windermere Observer

New Jersey, United States, The Direct-To-Consumer (DTC) Genetic Testing Market is exhaustively researched and analyzed in the report to help market players to improve their business tactics and ensure long-term success. The authors of the report have used easy-to-understand language and uncomplicated statistical images but provided thorough information and detailed data on the global Direct-To-Consumer (DTC) Genetic Testing market. The report equips players with useful information and suggests result-oriented ideas to gain a competitive edge in the global Direct-To-Consumer (DTC) Genetic Testing market. It shows how different players are competing in the global Direct-To-Consumer (DTC) Genetic Testing market and discusses about strategies they are using to distinguish themselves from other participants.

Direct-to-Consumer (DTC) Genetic Testing Market was valued at USD 789.92 Million in 2018 and is projected to reach USD 2,361.12 Billion by 2026, growing at a CAGR of 14.59% from 2019 to 2026.

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Top 10 Companies in the Global Direct-To-Consumer (DTC) Genetic Testing Market Research Report:

The researchers have provided quantitative and qualitative analysis along with absolute dollar opportunity assessment in the report. Additionally, the report offers Porters Five Forces analysis and PESTLE analysis for more detailed comparisons and other important studies. Each section of the report has something valuable to offer to players for improving their gross margin, sales and marketing strategy, and profit margins. Using the report as a tool for gaining insightful market analysis, players can identify the much needed changes in their operation and improve their approach to doing business. Furthermore, they will be able to give a tough competition to other players of the global Direct-To-Consumer (DTC) Genetic Testing market while identifying key growth pockets.

Global Direct-To-Consumer (DTC) Genetic Testing Market: Segment Analysis

This section of the report includes segmentation such as application, product type, and end user. These segmentations aid in determining parts of market that will progress more than others. The segmentation analysis provides information about the key elements that are thriving the specific segments better than others. It helps readers to understand strategies to make sound investments. The Global Direct-To-Consumer (DTC) Genetic Testing Market is segmented on the basis of product type, applications, and its end users.

Global Direct-To-Consumer (DTC) Genetic Testing Market: Regional Analysis

This part of the report includes detailed information of the market in different regions. Each region offers different scope to the market as each region has different government policy and other factors.

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Table of Content

1 Introduction of Direct-To-Consumer (DTC) Genetic Testing Market

1.1 Overview of the Market 1.2 Scope of Report 1.3 Assumptions

2 Executive Summary

3 Research Methodology of Verified Market Research

3.1 Data Mining 3.2 Validation 3.3 Primary Interviews 3.4 List of Data Sources

4 Direct-To-Consumer (DTC) Genetic Testing Market Outlook

4.1 Overview 4.2 Market Dynamics 4.2.1 Drivers 4.2.2 Restraints 4.2.3 Opportunities 4.3 Porters Five Force Model 4.4 Value Chain Analysis

5 Direct-To-Consumer (DTC) Genetic Testing Market, By Deployment Model

5.1 Overview

6 Direct-To-Consumer (DTC) Genetic Testing Market, By Solution

6.1 Overview

7 Direct-To-Consumer (DTC) Genetic Testing Market, By Vertical

7.1 Overview

8 Direct-To-Consumer (DTC) Genetic Testing Market, By Geography

8.1 Overview 8.2 North America 8.2.1 U.S. 8.2.2 Canada 8.2.3 Mexico 8.3 Europe 8.3.1 Germany 8.3.2 U.K. 8.3.3 France 8.3.4 Rest of Europe 8.4 Asia Pacific 8.4.1 China 8.4.2 Japan 8.4.3 India 8.4.4 Rest of Asia Pacific 8.5 Rest of the World 8.5.1 Latin America 8.5.2 Middle East

9 Direct-To-Consumer (DTC) Genetic Testing Market Competitive Landscape

9.1 Overview 9.2 Company Market Ranking 9.3 Key Development Strategies

10 Company Profiles

10.1.1 Overview 10.1.2 Financial Performance 10.1.3 Product Outlook 10.1.4 Key Developments

11 Appendix

11.1 Related Research

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Direct-To-Consumer (DTC) Genetic Testing Market 2020 Brief Analysis by Top Companies- 23andMe, Ancestry, Karmagenes, Color, Genesis HealthCare -...

Nima Sharifi, M.D.

A new Cleveland Clinic study has uncovered a genetic anomaly associated with poor response to a common asthma treatment. The findings, published in Proceedings of the National Academy of Sciences, showed that asthmatic patients with the gene variant are less likely to respond to glucocorticoids and often develop severe asthma.

The research team, led by Nima Sharifi, M.D., of Cleveland Clinics Lerner Research Institute, identified that the gene variant HSD3B1(1245A) is associated with glucocorticoid response and may be clinically useful to identify patients most likely to benefit from other treatments.

Glucocorticoids, which modulate systemic inflammatory response, are commonly prescribed to treat severe asthma. However, until now we have not understood why many patients do not benefit from them, said Dr. Sharifi, senior author of the article. These findings make the case for genetic testing and personalized treatment and provide important information for identifying which patients should be treated using different therapies.

In the study, Dr. Sharifi and his collaborators retrospectively analyzed the association between patient genomes and lung function in more than 500 asthmatic patients who received daily oral glucocorticoids treatment or no glucocorticoids treatment.

Joe Zein, M.D.

They found that a change to the gene HSD3B1 specifically the HSD3B1(1245A) variant is associated with poor lung function and glucocorticoid treatment resistance. The analysis revealed that among patients receiving glucocorticoids, those with the variant had poorer lung function than those who did not have the genetic anomaly, suggesting that it contributes to resistance and helps drive the progression to severe asthma.

Previous studies have shown that HSD3B1 encodes an enzyme that converts less active hormones called androgens into more powerful androgens. While additional research is necessary, the team suspects that HSD3B1(1245A)s effect on lung function may be attributed to inhibition of this process.

This study is the first to provide genetic evidence suggesting that variants related to androgen synthesis affect glucocorticoids treatment resistance in asthma or any other inflammation-related disease, said Joe Zein, M.D., first author on the study and a practicing pulmonologist in Cleveland Clinics Respiratory Institute. These findings provide us with important new information that may lead to more tailored treatments for asthma patients and the ability to prevent the development of severe disease.

Asthma is a chronic condition that causes the airways of the lungs to narrow, the lining of the airways to become inflamed and the cells that line the airways to produce more mucus, making it difficult to take in enough air. According to the CDC, about 25 million people in the U.S. have asthma, including more than six million children. Asthma accounts for nearly two million emergency department visits each year.

Previously, Dr. Sharifis laboratory has extensively studied the role of HSD3B1 in prostate cancer. In 2013, he made the seminal discovery that prostate cancer cells with the HSD3B1(1245C) variant survive androgen deprivation therapy, the first line of defense against prostate cancer, by producing their own disease-fueling androgens. He has spent more than seven years studying and publishing peer-reviewed articles on the variants effect in prostate cancer.

Dr. Sharifi holds the Kendrick Family Chair for Prostate Cancer Research at Cleveland Clinic and directs the Cleveland Clinic Genitourinary Malignancies Research Center. He has joint appointments in the Glickman Urological & Kidney Institute and Taussig Cancer Institute. In 2017, he received the national Top Ten Clinical Achievement Award from the Clinical Research Forum for his discoveries linking HSD3B1(1245C) with poor prostate cancer outcomes.

Dr. Zein is a member of the Cleveland Clinic Asthma Center, which provides a comprehensive approach to asthma management and care along with innovative research, offering patients access to the most advanced diagnostic testing and innovative treatments.

This study was supported by the National Heart, Lung, and Blood Institute and the National Cancer Institute, both of the National Institutes of Health.

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Cleveland Clinic Study Identifies Genetic Anomaly Associated with Poor Response to Common Asthma Treatment - Health Essentials from Cleveland Clinic

A new study has uncovered a genetic anomaly associated with poor response to a common asthma treatment. The findings showed that asthmatic patients with the gene variant are less likely to respond to glucocorticoids and often develop severe asthma.

The research team, led by Nima Sharifi, M.D., of Cleveland Clinics Lerner Research Institute, identified that the gene variant HSD3B1(1245A) is associated with glucocorticoid response and may be clinically useful to identify patients most likely to benefit from other treatments.

Glucocorticoids, which modulate systemic inflammatory response, are commonly prescribed to treat severe asthma. However, until now we have not understood why many patients do not benefit from them, said Dr. Sharifi, senior author of the article. These findings make the case for genetic testing and personalized treatment and provide important information for identifying which patients should be treated using different therapies.

In the study, Sharifi and his collaborators retrospectively analyzed the association between patient genomes and lung function in more than 500 asthmatic patients who received daily oral glucocorticoids treatment or no glucocorticoids treatment.

They found that a change to the gene HSD3B1 specifically the HSD3B1(1245A) variant is associated with poor lung function and glucocorticoid treatment resistance. The analysis revealed that among patients receiving glucocorticoids, those with the variant had poorer lung function than those who did not have the genetic anomaly, suggesting that it contributes to resistance and helps drive the progression to severe asthma.

Previous studies have shown that HSD3B1 encodes an enzyme that converts less active hormones called androgens into more powerful androgens. While additional research is necessary, the team suspects that HSD3B1(1245A)s effect on lung function may be attributed to inhibition of this process.

This study is the first to provide genetic evidence suggesting that variants related to androgen synthesis affect glucocorticoids treatment resistance in asthma or any other inflammation-related disease, said Joe Zein, M.D., first author on the study and a practicing pulmonologist in Cleveland Clinics Respiratory Institute. These findings provide us with important new information that may lead to more tailored treatments for asthma patients and the ability to prevent the development of severe disease.

Reference

Zein et al. (2020) HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma. PNAS. DOI: https://doi.org/10.1073/pnas.1918819117

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Genetic Anomaly Associated With Poor Response to Asthma Treatment is Uncovered - Technology Networks

Twelve Indicted in Kickback Conspiracy, Former CEO Pleads Guilty

TEXARKANA, Texas Twelve individuals from three states have been charged in a federal indictment returned in the Eastern District of Texas, announced U.S. Attorney Joseph D. Brown today.

Nicolas Arroyo, 38, of Newport Coast, CA, pleaded guilty to conspiracy to defraud the United States on Jan. 14, 2020 before U.S. Magistrate Judge Caroline Craven.

According to information presented in court, Arroyo was the CEO of a clinical laboratory when he conspired with others to pay and receive kickbacks in exchange for the referral of and arranging for health care business, specifically pharmacogenetic (PGx) tests. Pharmacogenetic testing, also known as pharmacogenomic testing, is a type of genetic testing that identifies genetic variations that effect how an individual patient metabolizes certain drugs. The illegal arrangement concerned the referral of PGx tests to clinical laboratories in Fountain Valley, California, Irvine, California, and San Diego, California. More than $28 million in illegal kickback payments were exchanged by the defendants and others during the conspiracy. On Dec. 11, 2019, a federal grand jury returned an indictment in which Philip Lamb, 44, of Scottsdale, Arizona; Nicolas Arroyo, 38, of Newport Coast, California; Vincent Marchetti, Jr., 55, of Coronado, California; William Flowers, 55, of Houston, Texas; Steven Donofrio, 45, of Temecula, California; James J. Walker, Jr. a/k/a Jimmy Walker, 46, of Frisco, Texas; Timothy Armstrong, 62, of Frisco, Texas; Virginia Blake Herrin, 54, of Frisco, Texas; Patrick Ridgeway, 50, of Jackson, Mississippi; Chismere Mallard, 39, of McAllen, Texas; Ray W. Ng, 61, of Dallas, Texas; and Ashley Kretzschmar, 34, of Aledo, Texas; were indicted for conspiracy to commit illegal remunerations in violation of the Anti-Kickback Statute. The Anti-Kickback Statute prohibits offering, paying, soliciting, or receiving remunerations in exchange for the referral of or arranging for items or services payable under federal health care programs.

We continue to see individuals in the healthcare industry creating illegal kickback arrangements, trying to cheat the system and turn healthcare decisions into financial decisions instead of what is best for the patient, said United States Attorney Joseph D. Brown.This must stop, and doctors should be aware of the emphasis that is being put on stopping these practices.

Under federal statutes, Arroyo faces up to 5 years in federal prison at sentencing. The maximum statutory sentence prescribed by Congress is provided here for information purposes, as the sentencing will be determined by the court based on the advisory sentencing guidelines and other statutory factors. A sentencing hearing will be scheduled after the completion of a presentence investigation by the U.S. Probation Office.

This case was investigated by the U.S. Department of Health and Human Services, Office of Inspector General, the FBI Dallas Frisco Resident Agency, and the U.S. Department of Homeland Security, Homeland Security Investigations. It was prosecuted by Assistant U.S. Attorneys Nathaniel C. Kummerfeld and L. Frank Coan, Jr.

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Twelve Indicted in Kickback Conspiracy Former CEO Pleads Guilty - Twelve Indicted in Kickback Conspiracy Former CEO Pleads Guilty TEXARKANA Texas ...

Michael Lee and Angela Peang look like a couple that is head-over-heels in love with each other. The 38-year-olds are often kissing and always together. They're also related. Michael's mom is Angela's dad's sister, making them first cousins. The pair appeared on WeTV's Extreme Love, where they described their history. Since Angela's dad was often stationed overseas for his State Department job, she didn't meet Michael until they were 7 . They claim to have had an instant connection and even shared their first kiss together in a closet at that time when they were 7.

However, with the distance between them, they grew apart, went to different colleges and married their respective first spouses - Angela even had three kids with hers, now ages 17, 16 and 12. Years later, after both Angela and Michael wound up getting divorced, social media brought them together again and when they met in person, the spark was stronger than ever. They wound up getting married and since marrying your first cousin is illegal in their home state of Utah, they got hitched in Colorado.

With so much passion between them, it's no surprise Angela is now pregnant with their first child, however that can get them in a lot of trouble because the baby's existence proves they've had sex, a crime that could cost them $10,000 in fines and put them in prison for five years since intercourse between cousins is illegal in Utah. The reason for that law is because children between cousins have an increased risk of a birth defect (4 to 7% chance as compared to the 3 to 4% for non-related couples).

However, the pair did their due diligence and got genetic testing, which showed it would be okay for them to parent together. Their baby boy is due on May 22nd and is expected to be in good health after further tests ruled out any disabilities.

The couple, who feel people should mind their own business and not worry about their relationship, has also launched a petition to legalize marriage between first cousins in Utah. They've gotten 1,500 signatures so far but will need tens of thousands more to get any traction.

You can check out Extreme Love Fridays at 10 p.m. ET on WeTV.

Photo: YouTube

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Married First Cousins Expecting Baby Could Face Prison Time - iHeartRadio

SAN FRANCISCO, Jan. 12, 2020 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), a leading medical genetics company, announced preliminary unaudited full-year 2019 results, driving strong growth in volume and revenues, signaling continued momentum going into 2020. The company accessioned more than 482,000 samples and generated approximately $216 million in revenue in 2019. The company also announced 2020 guidance of more than 725,000 samples accessioned and more than $330 million in revenue, reflecting a more than 50% annual growth in both volume and revenue. Invitae has now provided in-depth medical genetic sequencing for more than one million patients since launch, including more than 750,000 in the past two years.

"Invitae is proving that genetics is a growth story today and for the future, demonstrated by our nearly 60 percent volume growth, more than 45 percent revenue growth and yet another year of executional excellence. As we look to 2020, with new account growth continuing to soar and strong re-order rates, we are confident in our ability to drive growth and, most importantly, increase the number of patients we can help," said Sean George, co-founder and chief executive officer of Invitae. "Before Invitae began, medical genetics was considered a niche diagnostic offering, available at high prices to the sickest few. We envisioned a world where all patients would have access to in-depth genetic information to inform their healthcare. We are making that vision a reality, having now provided answers to more than one million patients."

Preliminary, unaudited financial results for 2019 and guidance for 2020

Looking ahead to 2020, Invitae anticipates test volume of more than 725,000 samples accessioned generating more than $330 million in revenue for the year, reflecting a more than 50% annual growth rate in both volume and revenue.

Invitae has not completed preparation of its financial statements for the fourth quarter or full year 2019. The preliminary, unaudited results presented in this news release for the quarter and year ended December 31, 2019 are based on current expectations and are subject to adjustment. Actual results may differ.

Invitae will report its full financial results and other metrics during its fourth quarter and year-end 2019 conference call in February.

2019 corporate and scientific highlights

Invitae's network of biopharma partnerships continued to grow throughout the year and now includes more than 80 agreements with more than 45 companies:

Invitae enhanced its technologies and services and advanced medical research to deepen understanding of the use of genetics in clinical care:

Invitae expanded access to its high-quality, in-depth medical genetic testing via insurers and health systems in the United States and internationally:

Webcast informationThe company will present at the 38th Annual J.P. Morgan Healthcare Conference on Wednesday, January 15, 2020 at 7:30 a.m. Pacific followed by a breakout session at 8:00 a.m. Pacific at the Westin St. Francis Hotel in San Francisco. The live webcast of both the presentation and the breakout session may be accessed by visiting the investors section of the company's website at ir.invitae.com. A replay of the webcasts will be available shortly after the conclusion of the presentation and will be archived on the company's website.

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

Safe Harbor StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including the company's preliminary financial results for 2019, including volume, revenue, cash, cash equivalents and restricted cash and cash burn; the company's guidance for 2020, including volume and revenue levels; the company's expectations for 2020 regarding its ability to deliver on its goal to accelerate growth and to increase the number of patients served; the company's beliefs regarding the benefits of its acquisitions; and the company's beliefs regarding the momentum in its business and the drivers of such momentum; the company's announcement regarding new Detect partners; and the company's plans to increase its international presence. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: actual results for the fourth quarter and full year 2019, the year-end close process and audit of the company's financial statements, the company's ability to build on momentum in its business and the drivers of momentum, the company's history of losses; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to compete; the company's ability to develop and commercialize new tests and expand into new markets; risks associated with the company's ability to use rapidly changing genetic data to interpret test results accurately, consistently, and quickly; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the company's ability to successfully integrate acquired businesses, and the benefits to the company of any such acquisitions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

INVITAE CORPORATION

Reconciliation of Net Increase in Cash, Cash Equivalents and Restricted Cash to Cash Burn

(in millions)(preliminary, and unaudited)

Year Ended

December 31, 2019

Net increase in cash, cash equivalents and restricted cash

$

39.4

Adjustments:

Purchases of investments

260.9

Maturities of investments

(34.5)

Proceeds from public offering of common stock, net of issuance costs

(204.0)

Proceeds from issuance of convertible senior notes, net

(339.9)

Proceeds from exercises of warrants

(0.2)

Cash burn

$

(278.3)

1

1 Cash burn for the year ended December 31, 2019 includes $85.6 million of cash paid to settle our obligations under the 2018 Note Purchase Agreement (which includes $1.3 million of accrued interest on the third quarter 2019 quarterly interest payment) and $41 million paid in connection with acquisitions during 2019.

Contact:Laura D'Angeloir@invitae.com(628) 213-3369

1 Miller, Nicole, et al, "Behind the Seizure: A No-Cost 125-gene Epilepsy Panel for Pediatric Seizure Onset Between 24 Years". Presented at the American Society of Human Genetics Meeting: October 1620, 2018, San Diego, CA.

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SOURCE Invitae Corporation

Company Codes: NYSE:NVTA

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Invitae preliminary 2019 financial results demonstrate strong momentum with nearly 60% growth in test volume and more than 45% growth in revenue...

Generate serves families from preconception to post-birth throughout the significant and highly personalized journey of building a family and protecting their children's health. Built upon the pillars of innovation, access, and connection, Generate has already helped grow and protect nearly 1 million families around the world.

Our legacy brands CBR, California Cryobank, and Donor Egg Bank USA are pioneering leaders in their respective fields and continue to set industry standards for innovation, scientific excellence, and customer focus. Generate is furthering the impact of this life sciences platform with the addition of advanced pediatric genetic testing, US distribution of reproductive medical devices and proprietary healthcare technology through the respective brands ReadyGen (pediatric genetic screening powered by Sema4), Kitazato USA (medical device distribution), and Donor Application (proprietary software for reproductive clinics).

"Our brands are leaders in each of their categories; as a life sciences platform, we are uniquely positioned to give clients access to the full range of expertise and services needed to create and support healthy families," said Richard Jennings, Chief Executive Officer. "Generate helps its clients realize their dreams of having a baby and provides access to scientific innovations in stem cells and genetic services that improve the lives of families around the world."

With the substantial growth in single parenting by choice and LGBTQ+ family building, as well as a trend towards having children later in life, Generate's reproductive health services have never been in higher demand. Similarly, advances in stem cell therapies and research into regenerative medicine have emphasized the importance and increased the awareness and interest in storing newborn stem cells with CBR.

"Generate Life Sciences is positioned to play an increasingly important role in protecting families as regenerative medicine and new genetic testing platforms open the door to the future of personalized medical treatments," said Jaime Shamonki, MD, Chief Medical Officer. "Uniting key elements of the family-building experience under Generate will give our clients peace of mind, convenient access, and exceptional support throughout this significant time in their lives. This organization has collectively helped create nearly 100,000 families and provides access to invaluable long-term health benefits to almost a million more. For us, Generate represents more than just good business; it is advancing scientific innovations that help the future of humanity."

"The journey to parenthood has evolved over the years, but the end goal is the same people want to have children and they want to keep them safe and healthy. In the modern age, we have advanced the science and technology available to help individuals grow their families and be more proactive in planning for their future health," said Michael J. Levy, MD, IVF Director and Co-Founder, Shady Grove Fertility. "That is where Generate Life Sciences becomes a trusted partner for clients from pre-conception through post-birth. From donor egg and donor sperm to newborn stem cell services and genetic testing, Generate is there every step of the way. And the possibilities are endless."

"Generate Life Sciences made our dream of becoming parents a reality. From helping us choose our amazing California Cryobank sperm donor for our twin girls, to rushing a CBR cord blood collection kit for our son when my wife went into early labor, they have always gone above and beyond to help. We look to Generate as a trustworthy partner we can rely on for these very personal and private moments in our lives," said Sharon Kochlany & Vanessa Colimorio, customers of Generate.

Generate Life Sciences BrandsGenerate Life Sciences is a company of established, trustworthy brands founded and grown over 40 years by experts in reproductive medicine, newborn stem cell services, and genetics. Those brands include:

Newborn Stem Cell Services CBR (Cord Blood Registry): CBR has stored newborn stem cells (stem cells collected from cord blood and cord tissue) for almost 30 years.

Reproductive ServicesCalifornia Cryobank Donor Sperm Bank:California Cryobank is a pioneer and industry leader in donor sperm banking, offering the most rigorously screened donors, largest selection, and scientific expertise for more than 40 years.

Donor Egg Bank USA:Donor Egg Bank is a true leader in its category, maintaining the highest clinical pregnancy rate in the industry, while growing the largest frozen donor egg program in the United States.

NW Cryobank:For over 30 years, NW Cryobank has been helping couples, single women, and the LGBTQ+ community create happy, healthy families.

Genetic Services ReadyGen:Powered by Sema4, ReadyGen is an innovative and advanced pediatric screening test that empowers parents to further protect their children by delivering clinically actionable and personalized health insights.

Medical Devices and Healthcare TechnologyKitazato USA:Kitazato USA by California Cryobank is the exclusive distributor of Kitazato products in the US, offering devices for human assisted reproductive medicine from the innovator of the Cryotop Method vitrification technique.

Donor Application: Proprietary software providingdonor screening and recipient matching services on a HIPAA compliant platform.

About Generate Life SciencesGenerate Life Sciences (Generate)is a life sciences company helping to grow and protect families through reproductive, newborn stem cell, genetic screening, medical device, and healthcare technology services. We serve families from preconception to post-birth. Our brands - CBR (Cord Blood Registry), California Cryobank Donor Sperm Bank, Donor Egg Bank USA, NW Cryobank, ReadyGen, Kitazato USA, and Donor Application are pioneering leaders, helping to grow and protect nearly 1 million families. Headquartered in Los Angeles, Generate operates facilities in Tucson, New York, Boston, Palo Alto, and Rockville, MD. Generate is a portfolio company of GI Partners, a private investment firm based in San Francisco.

Media ContactsMonica Rohledermedia@generatelifesciences.com847-606-1973

SOURCE Generate Life Sciences

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Introducing Generate Life Sciences - A First-Of-Its-Kind Company Focused On Helping Grow And Protect Healthy Families - PRNewswire

When Katy Mathes and six of her family members learned they had a mutation on a BRCA gene that significantly raised their risk of breast cancer they underwent major surgery. But years later, the genetic testing company lowered the family's odds of getting the disease, Amy Dockser Marcus reports for the Wall Street Journal.

In August 2015, Mathes decided to get a BRCA test. Mathes' mother had been diagnosed with breast cancer at 49, and four of her aunts had tested positive for the BRCA gene, and "moved quickly to get surgery," Dockser Marcus reports.

Mathes and her sister, Tricia Leigh, also had positive tests. The test results showed that Mathes had up to an 84% risk of developing breast cancer by age 70 and up to a 27% risk of developing ovarian cancer by age 70. Among the general population, the odds of developing breast or ovarian cancer are 7.3% and 0.7%, respectively, Dockser Marcus reports.

But the two women grappled over the decision of whether to get surgery: Mathes wanted another child and her sister was breastfeeding her second child.

After consulting with additional doctors, Mathes eventually decided to have her ovaries and fallopian tubes removed, the same procedure her aunts, sister, and mother underwent. In addition, Mathes and her sister had double mastectomies.

"I treated my test results like the Bible," Mathes said. "There was no questioning the report."

But years after the initial test, Myriad Genetics, the molecular diagnostics company that did Mathes' test as well as her relatives', changed its classification of the BRCA variant Mathes has from "pathogenic" to "unknown significance," a move that Myriad said is very unusual.

By this point, Mathes and six of her family members had undergone surgery based on their test results. When the sisters learned the news, Mathes said, "My brain just shut off."

Susan Manley, SVP of medical services at Myriad and a board-certified genetic counselor, said, "We know these are very difficult situations. We make these reclassifications very carefully. The science is evolving." She added that changing a classification from harmful to uncertain "is a rare event, but I understand that rare is of no consolation to the patient when it happens to them."

BRCA tests are among the most common genetic tests in existence, Dockser Marcus writes, and genetic testing guidelines have expanded who should receive BRCA tests. Major genetic testing companies such as 23andMe, Ancestry, and MyHeritage now offer the tests for BRCA1 and BRCA2 genes.

However, not every lab agrees on the specific classification of a BRCA gene variant, Dockser Marcus reports. That's in part because there are "tens of thousands of BRCA variants" and not all of them necessarily carry the same level of risk for a patient, Dockser Marcus reports.

Fergus Couch, a professor at the Mayo Clinic, said some variants "have intermediate or moderate levels of risk, not full-blown risk." For a number of those variants, labs "are making a judgment call but that is not always clear to the public," Couch said.

Stephen Chanock, a geneticist at the National Cancer Institute, said, "[G]enetics is murky." He added, "It's not so simple as 'Doctor, do I have to worry or don't I have to worry?'"

According to Melissa Cline, a researcher at the University of California Santa Cruz Genomics Institute, and project manager of the BRCA Exchange, the analysis on the BRCA variant in the Mathes' family put a lot of weight on a 2011 paper that found the variant likely alters the BRCA2 protein, which can help suppress tumors.

Seth Marcus, a genetic counselor at Advocate Health Care who counseled Mathes' mother and one of her aunts, said he checked a public database to see how other labs classify the variant once he heard of Myriad's change. He said six labs still classify the variant as "likely pathogenic."

"In the end, you give the patient the data and the knowledge you know," he said.

Dockser Marcus reports that Myriad currently has 38 people in its database with the BRCA variant Mathes and her relatives have, 12 of whom come from Mathes' family. Mathes said that if she had known about the sample size, she and her husband may have asked more questions about whether surgery was appropriate.

Now, based on Mathes' family history and Myriad's classification change, Mathes' genetic counselor estimated her lifetime risk of developing breast cancer is 21%, Dockser Marcus writes.

"That is not high enough to make me remove organs," Mathes said. "I would have had another kid. I would have waited to do surgery" (Dockser Marcus, Wall Street Journal, 12/20/19).

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'I would have had another kid': How an imperfect gene test led to major surgeryand big regrets - The Daily Briefing

Cystic fibrosis carriers individuals who have certain genetic mutations in one of the copies of the CFTR gene have a significantly increased risk compared with healthy people for several CF-related conditions, a new study shows.

The study, Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions, was published in the journal Proceedings of the National Academy of Sciences.

Because CF is a recessive genetic disorder, both copies of a persons CFTRgene one inherited from the mother and the other from the father must be mutated to develop the full-blown disease. People with CF develop recurrent pulmonary infections and also hormonal, gastrointestinal, pancreatic, liver, and reproductive problems.

People with one mutated copy of the CFTRgene are called CF carriers. It was believed that these individuals, having only 1 defective CFTR gene, are not considered to be at increased risk for CF-related conditions, the researchers said.

In fact, CF carriers are routinely informed that they are not at increased health risk, they said.

However, some studies have found a higher-than-expected proportion of CF carriers with a limited number of CF-related conditions, the team noted. These conditions include pancreatitis, male infertility, airway infections, and gastrointestinal problems.

The researchers noted that the majority of these studies were performed on a small scale and lack appropriated controls. Thus, there was an unmet need to confirm and expand on previous studies suggesting that CF carriers are at greater risk for CF-related conditions.

That led the team, from the University of Iowa (UI), to investigate the risk of carrier status in developing CF-related conditions. The scientists analyzed data from the IBM Watson/Truven Health Analytics MarketScan Database, a large database of health information.

The team identified 19,802 CF carriers, and matched each carrier with five people without CF (controls), totaling 99,010 people. For the CF group, they included 23,557 patients with the disease, who were matched to a non-CF group of 117,762 healthy people (controls).

All participants were analyzed for 59 CF-related conditions, including those affecting the bone, like osteoporosis and scoliosis, those impacting the endocrine system, including diabetes, those having an effect on the gastrointestinal system, and those affecting organs like the liver, pancreas, kidneys, and lungs.

The results showed that CF carriers were at higher risk for all 59 conditions analyzed, with a significant risk found for 57 of them.

Carriers had a significantly greater risk of conditions previously linked to the CF carrier status, like male infertility or pancreatitis. However, they also were found to be at significantly increased risk for conditions not previously linked to the carrier state, such as constipation or diabetes, among others.

Moreover, the team found that the more prevalent a condition is in CF patients, the more widespread it also is in CF carriers.

To exclude any potential bias, the researchers included a CF carrier validation cohort a group composed of 2,185 mothers of CF patients (meaning the mothers must be CF carriers).

Health records of these women, from before their children were diagnosed, mirrored the previous findings. Specifically, among the 42 conditions detected in the adult women, 40 of them had higher prevalence among CF carriers. For 28 of these conditions, the link was statistically significant.

Taken together, our results call into question the idea that CFTR expression levels associated with the CF carrier state are sufficient to completely protect subjects from CF-related conditions, the researchers said.

Notably, while the investigators said their findings show the risk of certain CF-related conditions is higher for carriers compared with healthy controls (relative risk), the actual chance (absolute risk) of developing these conditions is still very low.

CF carriers are nowhere near as at-risk as patients with CF, Philip Polgreen, MD, UI professor of internal medicine and epidemiology, and the studys lead author, said in a press release. But compared to people with no CF mutations, they have a slightly higher risk for some diseases.

For conditions such as chronic pancreatitis, the relative risk is very high for carriers, but the absolute risk of pancreatitis is low, even for CF carriers in our sample, the researchers said.

Nonetheless, these findings carry implications for how CF carriers including more than an estimated 10 million Americans live their lives. For example, being a CF carrier may provide motivation for avoiding other disease-risk factors, such as excessive alcohol use (e.g., pancreatitis), and may help inform screening or preventive-treatment strategies (e.g., gastrointestinal cancer), the researchers said.

The team also emphasized that genetic testing, combined with data from large medical databases, may help CF carriers, and be extended to carriers of other recessive genetic diseases.

More and more individuals are receiving genetic testing from their providers or from private companies, and if this information can be incorporated into healthcare records, there could be many new opportunities to discover both population-level health risks and individualized treatment options, said Aaron Miller, PhD, UI assistant professor of epidemiology, and the studys first author.

Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Department of Microbiology & Immunology, Columbia University, New York.

Total Posts: 336

Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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CF Carriers at Increased Risk for Disease-related Conditions, Study Finds - Cystic Fibrosis News Today

The only thing Amber Freed ever wanted was to be a mom.

Like a lot of people, she and her husband Mark had a hard time conceiving. But after two years of IVF treatments, the Denver couple got a double dose of good news: Amber was pregnant with twins.

Maxwell and Riley were born on March 27, 2017.

"They instantly changed my life and made me so happy," Amber said.

But while the twins came into the world together, they didn't develop at the same pace as they grew. When they were about four months old, Amber and Mark noticed the difference: Maxwell wasn't reaching for toys or his bottle like his sister did he didn't use his hands at all.

After six months of genetic testing, Maxwell was diagnosed with a disease so rare it doesn't even have a name. Instead, it's known by its genetic location: SLC6A1. At the time of Maxwell's diagnosis, there were only 50 known cases in the world.

"I just remember thinking that that wasn't the name of a disease. It was the name of a flight number," said Amber. "I could not understand what my perfect, beautiful little baby boy had, and neither could the doctors."

What they did know was that Maxwell's rare neurological condition would likely cause severe movement and speech disorders and intellectual disability. Between the ages of three and four, Maxwell is expected to develop a debilitating form of epilepsy and start to regress.

Mark and Amber Freed with their twins Riley and Maxwell

Amber Freed

Amber refused to just sit back and watch that happen. She quit her job as a financial analyst at Janus Henderson the day Maxwell was diagnosed, and dedicated herself to finding a cure.

"It was in that moment that there was no future for my most prized possession in the world, that I was not going to accept that answer for little Maxwell," she said. "And I decided to fight like a mother."

She asked the doctors what they would do if Maxwell were their child. They told her to "call scientists."

Working 80 hours a week, Amber became an expert in the biology of the disease and reached out to 140 scientists over the next three months. She founded a non-profit and in 10 months, between that and a GoFundMe campaign, has raised $1 million to fund the initial research into a cure.

Amber was told gene replacement therapy was Maxwell's best hope.

The Food and Drug Administration has already approved gene therapy for some other diseases, including a rare form of vision loss and for some leukemia patients. It involves introducing a new gene through a virus that doesn't make the patient sick. It targets the defective gene, replacing it with a good copy, altering the patient's DNA and it's hoped dramatically improving the disease with a single treatment.

At some point, Amber decided Dr. Steven Gray at the University of Texas Southwestern Medical Center in Dallas was the best person to help her son. But Gray was busy and hard to pin down. So Amber showed up at a conference where she knew he'd be speaking, and sat down next to him. After a four-hour dinner that night, they had a game plan.

Gray's team has advanced their research on SLC6A1 to the point where they're ready to start clinical trials.

But a phase one trial requires money. A lot of money. Amber needs another $3 million to $6 million and connections in the drug industry.

So she's joining the thousands of health industry investors and executives flying to San Francisco for the JPMorgan Healthcare Conference this week. You'll never find a place with a denser concentration of the people who fund drug development. She's hoping for donations or maybe to find a biotech company that would want to invest as a business opportunity.

But the Freed family is racing against the clock. Amber and Mark's little boy, who they call "Mr. Snuggles" because he loves hugging his sister and giving open mouth kisses, could start having debilitating seizures within the next year.

And even if she can get a clinical trial started, there's never a guarantee any patient, including Maxwell, will be admitted.

"The University of Texas Southwestern was very straightforward upfront that you may not be doing this for Maxwell," Amber explained. "There's a chance this may not be done in time for him, that you're doing it for every child that comes after him. And I lived with that fear and uncertainty for a very long time. And I understand and the way I make peace with it is thinking that there's no greater legacy in the world and doing the best you can to really impact a multitude of little lives."

She says her dream is that SLC6A1 will someday be part of a newborn screening panel, and that babies with the defect will be able to be treated and cured before they ever leave the hospital.

"They will never become symptomatic of this disease," she hopes. "There will never be another Maxwell Freed."

CORRECTION: This article was updated to correct the number of hours Amber Freed worked trying to find a cure for her son. It was 80 hours a week.

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'I decided to fight like a mother': How one parent is battling to cure a disease so rare it has no name - CNBC