Archive for the ‘Genetic Testing’ Category

NEW YORK, Oct. 21, 2019 /PRNewswire/ --

Predictive Genetic Testing & Consumer/Wellness Genomics Market Size, Share & Trends Analysis Report By Test Type (Population Screening, Susceptibility), By Application, By Setting Type, And Segment Forecasts, 2019 - 2025

Read the full report: https://www.reportlinker.com/p05807251/?utm_source=PRN

The global predictive genetic testing & consumer/wellness genomics market size is expected to reach USD 8.5 billion by 2025, registering a CAGR of 13.9% over the forecast period. Factors influencing the market progression include growing awareness about utilization of genetic tests that aid in prediction of gene susceptibility to disease development prior to symptoms. Moreover, rise in sales of these products owing to growing inclination of physicians is driving the market.

Introduction of novel platforms in next-generation sequencing technology aids in enhancing the accuracy of predictive genetic and consumer genomics kits. Market participants are engaged in implementing novel protocols to launch products that require minimal technical assistance and provide optimal customer satisfaction.

Pharmaceutical firms are engaged in several agreement models with genomic vendors for the release of novel therapeutics based on patient's phenotypic and genotypic information. For instance, in July 2018, GlaxoSmithKline plc purchased 23andMe's customer data to develop a new drug, thus promoting patient-centered healthcare.

Further key findings from the study suggest: High adoption rate of these products in clinical practice for detection of disease susceptibility resulted in the largest share of this segment in 2018 Growing awareness related to direct to consumer (DTC) genetic tests and entry of new players is attributive to the fastest growth of the consumer genomics segment Genetic susceptibility tests are of great interest in gynecology and endocrinology-related research and diagnosis, thus allowing it to capture the maximum revenue share. These tests enable the identification of susceptible genes or mutations in adenomyosis, endometriosis, and postmenopausal osteoporosis Application of predictive genetic and consumer genomics is highest in the detection of breast and ovarian cancer as these tests hold the potential to identify BRCA mutations in patients Advent of predictive tests for identification of MLH1, MSH2 genes for colorectal cancer diagnosis is expected to fuel market growth in the coming years Colorectal screening initiatives such as mass screening and population-based screening are expected to boost segment growth North America dominated the market with the largest revenue share in 2018 owing to the presence of major players and high adoption rate Asia Pacific is expected to witness substantial growth in the coming years owing to increasing adoption of these products in developing economies Manufacturers contributing significantly to market growth include Pathway Genomics; ARUP Laboratories; BGI; Illumina, Inc.; 23andMe, Inc.; Color Genomics Inc.; and Myriad Genetics, Inc. Established as well as emerging companies are involved in adopting strategic moves for the launch of novel products.

Read the full report: https://www.reportlinker.com/p05807251/?utm_source=PRN

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The global predictive genetic testing & consumer/wellness genomics market size is expected to reach USD 8.5 billion by 2025, registering a CAGR of...

Consumer genetic tests could be giving false reassurance to those at heightened risk of cancers, according to findings presented at an international conference this week.

The study, by clinical genetic testing company Invitae, revealed that tests for breast and bowel cancer risk by direct-to-consumer companies such as 23andMe give negative results to the vast majority of those carrying DNA mutations in the genes under investigation.

These tests should not be taken at face value at all, whether they are positive or negative, said Edward Esplin from Invitae ahead of the annual meeting of the American Society of Human Genetics in Houston, Texas.

The data really underscores that there needs to be increased awareness that results from this type of screening may not be wrong but theyre woefully incomplete.

The research also showed that those from Asian and African-American backgrounds were more likely to carry mutations that were not designed to be detected by the consumer tests.

The research focused on DNA-based tests relating to breast, ovarian and bowel cancer that were recently approved by the US Food and Drug Administration.

The tests operate by a subject sending a DNA swab in the post for analysis and then receiving results with information about how their genetics could influence their health.

In the case of breast and ovarian cancer, the FDA has approved a screening test for three specific mutations on the BRCA1 and BRCA2 genes, which are most common in people of Ashkenazi Jewish heritage. However, these mutations are rare in people from other backgrounds.

Similarly, for bowel cancer, 23andMe offers FDA-authorised tests for two mutations, which are most common among individuals of northern European ancestry. The company explains the limitations of these tests to consumers and on its website.

Esplin said that despite this, consumers could be wrongly reassured by a negative result.

The study analysed the DNA of 270,806 patients who had been referred by healthcare providers for testing of the MUTYH gene, and 119,328 who had been referred for BRCA1/2 genetic testing.

It showed that for both tests, the majority of those carrying mutations would not be spotted, which Invitae describes as a clinical false-negative result.

For MUYTH, 40% of individuals with mutations in both copies of their MUTYH genes consistent with an almost 100% lifetime risk of bowel cancer had different mutations to those screened for in the FDA-approved test. This figure rose to 100% for those from Asian backgrounds and 75% for African-Americans.

For BRCA genes, 94% of non-Ashkenazi Jewish individuals and 19% of those of Ashkenazi heritage had a mutation that would be missed. Again, the figures were highest for those of Asian (98%) and African-American (99%) ancestry. Its performing a disproportionate disservice to individuals of these underrepresented groups, Esplin said.

A clinical false-negative result can be incorrectly reassuring, excluding a patient from receiving the preventive care they need based on their risk, he added. It could be the difference between preventing cancer and developing cancer.

In response to the findings, 23andMe said in a statement: The claims made by a competitor that we are returning clinical false negatives is incorrect and a false characterisation of 23andMes test. Our test is extremely accurate. As part of the FDA authorisation process weve demonstrated over 99% accuracy for the variants we test for in our health product.

The company said it makes clear to customers that it tests only for certain genetic variants and that customers should not forgo any recommended testing based on 23andMe results. 23andMe is not a diagnostic test, the company said. If an individual has a family history of cancer or other indications for clinical testing we always recommend consulting a healthcare provider first.

Prof Anneke Lucassen, a clinical geneticist at the University of Southampton, said that, in her experience, non-specialists would be likely to wrongly interpret negative results as an all-clear.

I do think the false-negative rate is an issue, not necessarily through the companies fault but through low general awareness, she said. Most people who come to clinic ask: Have I got the gene for breast cancer? and imagine its a single test, not that the test involves looking through around 20,000 letters of the genetic code to see if any one of them might be different.

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Genetic testing kits 'may wrongly reassure those at risk of cancer' - The Guardian

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive." Myriad Genetics hide caption

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive."

As a teenager, Katie Gruman was prescribed one mental health drug after another. None seemed to help her manage symptoms of anxiety and bipolar disorder, so she self-medicated with alcohol and illicit drugs.

It would take five years, and trying more than 15 different medications, before she found meds that actually helped.

Now 28 and in recovery, Gruman has been on the same drugs for years. But when a clinician recommended a genetic test to see which drugs work best for her, she took it.

Reading the test results "was definitely vindicating," she says. Medications that hadn't worked for her as a teenager were the same ones the results marked as bad fits.

She says she wishes she had taken the test as a teenager. "I could have avoided a lot of disaster in my life," she says.

Psychiatric medications are known to be hard to match to symptoms, and many patients like Gruman live through years of trial and error with their doctors.

Companies that make genetic tests like the one Gruman used say they can save patients and doctors from prolonged searching for the right medication and save insurance companies from paying for ineffective drugs. But many researchers say the tests don't have enough evidence backing them up. The Food and Drug Administration has warned that the tests could potentially steer patients towards the wrong medications. Nonetheless, UnitedHealthcare, the nation's largest insurer, began covering them October 1 for its 27 million individual and group plans.

Test makers hailed the announcement of United's coverage, the first from an insurance company to apply to all of its commercial plans across the country.

"We expect this to be a tipping point," says Shawn Patrick O'Brien, CEO of Genomind, a company that makes one of the tests. Other insurers will cover the tests "because they don't want to be uncompetitive in the marketplace," he predicts.

If the prediction is correct, it would likely fuel a market that has seen its largest test maker, Myriad Genetics, sell about 375,000 of its psychiatric medicine tests in the 2019 fiscal year, according to Jack Meehan, an industry analyst for Barclays. Myriad reported that it sold $113 million worth of the tests.

In addition to UnitedHealthcare's coverage, Myriad Genetics' test is covered by Medicare, a regional Blue Cross Blue Shield affiliate, and the insurance network for the grocery chain Kroger, a spokesperson says.

Genomind has discussed coverage with insurers including Anthem and Blue Cross Blue Shield, O'Brien says.

Debates over efficacy

As the field of genetic testing to help diagnose and treat disease grows, medicine has embraced certain tests, such as that for the BRCA gene linked to breast cancer. But many researchers say there is not enough evidence tying genetic variants to better outcomes for most psychiatric medications.

James Potash, the head of psychiatry at Johns Hopkins Medicine and an expert on psychiatric genetics, says of all the tests claiming to improve depression treatment, GeneSight's has the most proof. That isn't saying much, though.

"I wouldn't say there's no evidence that it works," he says. "It's just the evidence at this point is still weak."

The idea behind the tests is that in some cases, people can have different reactions to the same drug, even at the same dose, because they have different gene variants. Which variant a person has can affect how quickly or slowly a medicine moves through their body.

This link between genes and drug metabolism has been known for decades, says Francis McMahon, who leads genetic research into mood and anxiety disorders at the National Institutes for Mental Health.

Usually, the longer it takes your body to process a drug, the easier it is for that medication to have an effect. But in psychiatry, McMahon says, how fast someone processes a drug, or metabolizes it, and how well they respond to the drug "are sometimes not strongly related."

This skepticism is shared by some insurance companies. "Anthem considers these tests investigational and not medically necessary," says a spokesman for the carrier, which covers 41 million people. The Blue Cross Blue Shield Federal Employee Program, which covers about two-thirds of government workers and their families, said "there is not enough evidence at this time to determine the effect of genetic testing on health outcomes," according to a spokeswoman.

Test makers are also facing FDA objections that they haven't proven some of the claims underpinning genetic tests for medications, including that antidepressants work better with some gene variants.

"Changing drug treatment based on the results from such a genetic test could lead to inappropriate treatment decisions and potentially serious health consequences for the patient," the agency warned in late 2018. It told companies to stop naming specific drugs, in marketing materials or test results, for which its tests "claim to predict a patient's response" without "scientific or clinical evidence to support this use."

Most test makers complied. One, Inova Genomics Laboratory, stopped selling a range of tests, including its test for mental health disorders, after the FDA followed up with a warning letter in April.

Several mental health advocacy groups, including the National Alliance on Mental Illness, have sided with test makers in their dispute with the FDA. Keeping the names and types of medication off of genetic test reports, as the FDA has required, will "impede the ability of psychiatrists and other front-line health care professionals to personalize medication decisions" for patients with depression, the groups wrote the FDA in September.

Some have argued that genetic tests like these shouldn't be regulated by the FDA at all. Tests conducted in a lab are a medical service, not a medical device that's shipped like a product, says Vicky Pratt, president of the Association for Molecular Pathology. As a medical service, she says, clinical laboratories are already regulated by the Centers for Medicare and Medicaid Services.

"It would be redundant to have dual regulation by both the FDA and CMS," says Pratt.

Cost-benefit analysis

Research into the tests' efficacy is ongoing and continues to be debated.

Myriad hoped to bolster evidence for its test, GeneSight, in a study it funded that was published this year in the Journal of Psychiatric Research, but the results were mixed.

In the study, doctors used genetic tests to help prescribe medications for one group of patients with depression, while another group of patients received usual care. There was overall no difference between the groups in the study's primary measure of symptom improvement, though some patients showed improved response and remission rates.

Responding to criticisms of its clinical trial results, Myriad Genetics spokesman Ron Rogers says the trial population whose average participant had tried more than three unsuccessful medications for depression was uniquely difficult to treat. He says he expects to see stronger outcomes in a forthcoming review of the trial data.

In a statement on the use of genetic testing in psychiatry, the International Society of Psychiatric Genetics, calls the existing evidence "inconclusive," and notes that if 12 patients take such a test for antidepressants, just one will benefit from it.

A low rate of success means insurers will have to pay for a lot of tests for one useful result, says Barclays analyst Meehan. Meehan pointed to a letter about the recent GeneSight study that was published in the same journal, which found that 20 patients would need to take the test for one to recover as a result. At $2,000 for a GeneSight test, the authors wrote, that means patients and insurers would have to cover $40,000 worth of tests. (While competitor Genomind does not share pricing information, a spokeswoman confirmed that it has an active contract with the Department of Veterans to supply tests for $1,886.)

Still some clinicians value the tests. Skeptics often misunderstand how the tests should be used, argues Daniel Mueller, a professor at the University of Toronto who researches how genes and drugs interact. (Mueller is involved in research comparing Myriad's GeneSight to another test developed by a University of Toronto-affiliated hospital.) Most of the time, he says, doctors who order the test already plan to prescribe medication. The test is just another tool to help them decide which one to prescribe.

"It's not an alternative intervention," Mueller says. "It's additional information." He orders the test for most patients who do not respond to at least one antidepressant.

"If you think about the cost of depression and weeks of suffering that you can potentially avoid for some patients," Mueller says, he thinks anyone who can afford a test should take it. (Myriad says 95% of patients pay less than $330 for their test, the cost remaining after insurance and possible financial assistance; Genomind says most privately insured customers pay no more than $325.)

A lack of watertight evidence for the tests should not stop doctors from using it to inform their choice of medication, says Reyna Taylor, who leads public policy for the National Council for Behavioral Health, one of the advocacy groups that defended the tests in a letter to the FDA. "You use the science that you currently have," she says.

"Whether our providers choose to use [a genetic test] or not, we want them to have that choice," she adds.

Disagreement among experts hasn't dissuaded UnitedHealthcare from paying for the tests.

In a statement, UnitedHealthcare spokeswoman Tracey Lempner says they "frequently review our coverage policies to ensure they reflect the most current published evidence-based medicine and specialty society recommendations."

Graison Dangor is a journalist in Brooklyn.

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Genetic Tests For Psychiatric Drugs Now Covered By Some Insurers : Shots - Health News - NPR

According to study findings presented at the American Society of Human Genetics (ASHG) 2019 Annual Meeting, health reports from direct-to-consumer (DTC) genetic tests that adopt a limited variant screening approach are producing clinically false-negative results.The advances in next-generation sequencing (NGS) technologies that have occurred since the "Genomic Era" mean that DTC genetic testing is now increasingly affordable and more of us are opting to do it. These genetic tests are marketed directly to consumers via an array of advertising platforms, print, television, or the internet; and the tests can be purchased online or in shopping stores. A customer purchases the test, sends the company a DNA sample and receives their results directly there is no intervention from a healthcare provider. DTC companies offer genetic tests for an array of purposes, be it to make predictions about an individual's health, to provide information on common genetic traits, or to offer insight on an individual's ancestry.The popularity of DTC genetic testing has grown to the extent that The U.S. Food and Drug Administration (FDA) has authorized marketing of health reports from DTC genetic screens for genetic risk of breast, colorectal and ovarian cancer.DTC "It's like reading a book"Typically, the tests search for variants in a consumer's genome, such as single nucleotide polymorphisms (SNPs), that can increase an individual's susceptibility to disease. However, concern has arisen as to whether the variant screening provided by DTC companies is thorough enough to yield true clinical value.While limited variant screens may be informative for the variants they detect, they are not designed to detect every variant that has been linked to the disease in question, explained Edward Esplin, MD, of Invitae, who presented the research. "Thus, these health reports may provide a false sense of reassurance and should not be used for making any health decisions without confirmation testing."Esplin told Technology Networks, "The limited health screens available direct-to-consumer state they should not be used for healthcare decision-making, consistent with FDA recommendations. Clinical tests are designed expressly for healthcare decision-making. Rather than looking at a few variants in a few genes, clinical tests provide comprehensive information on the relevant genes and variants proven to confer increased risk of disease. Its like proofreading a book. If each gene is a chapter, a clinical test proofreads the entire chapter on that gene, whereas a DTC test may look for errors in only a few letters."

In the presented study, Esplin and colleagues wanted to quantify the clinical false negatives that result from a limited screening strategy. They therefore focused on two FDA-authorized limited variant screening tests, one for MUTYH gene, which detects to variants linked with colorectal cancer, and one for BRCA1 and BRCA2, which identifies three variants associated with breast cancer.I ask Esplin how we define "limited screening". He tells me, "For tests using limited screening strategies only a small portion of the clinically relevant genetic variants are reported. For example, there are thousands of variants in BRCA1 and BRCA2 that have been shown to increase risk of breast and ovarian cancer in women. Screening tests that provide information on just 2 or 3 of those variants, such as those limited to the 3 BRCA1/2 variants most common in individuals of Ashkenazi Jewish descent, are highly limited. Again, the book analogy is helpful."The scientists studied 270, 806 patients who had been referred by healthcare professionals for MUTYH genetic testing, and 119, 328 who had been referred for BRCA1/2 genetic testing.

For both tests, they identified that if only the limited variant screenings had been performed, then most patients would have received a clinical false-negative result.

Specifically, for MUTYH genetic testing, 40% of individuals with mutations in both of their MUTYH genes (which is consistent with 100% lifetime risk of developing colorectal cancer) would have been missed. 22% of carriers of one MUTYH mutation, which is consistent with a 2-fold increased risk of colorectal cancer, also would have been missed.

When analyzing BRCA1/2 the variants tested were significantly more common amongst Ashkenazi Jewish study participants. However, even among these individuals, 19% would have received a false-negative result, and 94% of non-Ashkenazi Jewish individuals carried a BRCA1/2 mutation that would have been completely missed.

Esplin tells me, "Our study did not evaluate the reasons behind the variation in these populations that we observed. This is an important area for further study. That said, it stands to reason that if a test is looking at just 2 or 3 variants associated with a specific population, such those of Ashkenzai Jewish descent, populations likely to have substantially less of that heritage will exhibit substantially fewer of those variants."

He continues, "A clinical false-negative result can be incorrectly reassuring, excluding a patient from receiving the preventive care they need based on their risk. It could be the difference between preventing cancer and developing cancer."Analyzing differences among populationsEsplin's team analyzed the rate of false-negatives among patients of different ethnic backgrounds. Their results show that for MUTYH, 100% of Asians, 75% of African-Americans, 46% of Hispanics and 33% of Caucasians would have received a clinical false-negative. In parallel, for BRCA1/2, 98% of Asians, 99% of African-Americans, 94% of Hispanics, and 94% of Caucasians would have also received a clinical false-negative.

Collectively, these findings emphasize the medical worth of conducting in-depth, comprehensive clinical genetic testing. "The results from this type of DTC genetic screening may not be wrong but they are woefully incomplete, particularly when viewed against the health question a patient may be asking - am I at risk for cancer. We hope our research underscores the need for consumers to understand the deep limitations of these health reports and seek out appropriate clinical genetic testing when trying to understand their risk of health conditions like cancer," says Esplin.I ask Esplin what his advice would be to individuals considering a DTC genetic test. He tells me: "Think about the question you hope to answer by taking the test. If you are interested in whether you are at risk for a disease, you need a comprehensive, medical grade genetic test that can answer that question and be used by you and your physician to take action on the result. So if you want to know if youre at risk for cancer, you need a comprehensive clinical genetic test that evaluates all of the gene changes that can increase your risk. It is easier than ever before to get the tests genetic experts trust thanks to offerings like ours that link patients to clinicians via telemedicine. If youre interested in getting a health answer, get a medical test."

Reference: ED Esplin et al. (2019 Oct 17). Abstract: Limitations of direct-to-consumer genetic screening for hereditary breast, ovarian, and colorectal cancer risk. Presented at the American Society of Human Genetics 2019 Annual Meeting. Houston, Texas.Edward Esplin, M.D., was speaking with Molly Campbell, Science Writer, Technology Networks

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Limitations of Health Reports From Direct-to-Consumer Genetic Tests Are Identified - Technology Networks

Matthew Knowles, the father of the artists Beyonc and Solange, recently announced that he had been told that he has a breast cancer caused by a BRCA2 gene mutation and that his children have a 50 percent chance of inheriting it.

In 2007, my mother was in a similar position. She learned after receiving a breast cancer diagnosis at age 42 for a second time her first bout with cancer came when she was 28 that she carried a BRCA2 mutation. It meant that as her daughter, I had even odds of having inherited it from her.

BRCA1 and -2 gene mutations can elevate a carriers lifetime risk of developing breast cancer up to 72 percent, compared to a 12 percent lifetime risk among the general population. They can also elevate a carriers lifetime risk of ovarian, pancreatic or prostate cancers along with melanoma. Although he had a family history of breast cancer, Mr. Knowles had never been referred for genetic counseling or testing to evaluate his risk of having a BRCA mutation.

His story is all too common among African-Americans. Black women are substantially less likely to undergo genetic counseling and testing for BRCA mutations as compared to white women, even though research suggests that the rate of BRCA mutations is higher among black women than it is for white.

Researchers at the Moffitt Cancer Center in Florida found that among young breast cancer patients who met the national guidelines for receiving genetic counseling, only 37 percent of black women had discussed it with a provider compared to 86 percent of white women. Just 36 percent of black women received testing for BRCA compared to 65 percent of white women. A study showed that only 58 percent of black women who were eligible for genetic testing under the national guidelines received testing as a part of their routine care.

Although there is no clear answer as to why the disparity exists, one reason may be the lack of awareness among doctors that black people are at risk for carrying BRCA mutations. Ohio State University researchers interviewed black and white women at higher risk for breast cancer. One study participant, a black woman in her 20s, reported that when she had expressed interest in genetic counseling, her gynecologist told her that only Jewish women tested positive for BRCA mutations.

Although its true that Ashkenazi Jews have an especially high risk of carrying a mutation (the rate is estimated to be one in 40), people of all racial backgrounds run a risk. The same study also found that black women are less likely have seen a specialist who could provide information on genetic counseling and testing: only 15 percent of black women in the study had met with a genetics, cancer or breast specialist as against 70 percent of white participants.

Although there have not been any published studies that I know of on genetic counseling and testing rates among black men, a 2016 report found that among men diagnosed with prostate cancer, black men may be more likely to have BRCA1 and BRCA2 mutations than white men.

The discovery of the BRCA1 and -2 mutations in 1994 and 1995 was a huge breakthrough that allowed for us to get better at treating and preventing cancer. That makes the low levels of BRCA testing among African-Americans especially troubling, because people who know they are carriers can possibly reduce the risk of getting cancer by getting a preventive mastectomy or oophorectomy.

I know this myself. When I was 29, I was tested and discovered that my mother had passed on her BRCA2 mutation to me. I decided to have a preventive double mastectomy, which shrank my risk of developing breast cancer from 80 percent to less than 5 percent.

Even if a person decides not to do what I did, enhanced surveillance, like an MRI and mammogram every six months, can help detect cancer at an early stage when its more treatable. If black women and men arent receiving genetic testing, theyre potentially missing out on the chance to catch breast cancer early on. This is crucial because black women are more likely than white women get diagnoses of breast cancer at a later stage, which has lower survival rates. Similarly, black men are also more likely than white men to be told they have prostate cancer when it has reached a more advanced stage.

As the use of personalized medicine and genomics in treating cancer increases, knowing whether a patient has a BRCA mutation allows for individualized treatment. It also lets the patient to take steps to prevent a recurrence or a second cancer elsewhere. For example, once my mother learned that she carried a BRCA2 mutation, which is also associated with a higher risk of ovarian cancer, she underwent an oophorectomy. She has been cancer-free for 12 years.

Knowing that a person carries a BRCA mutation also provides an opportunity to test and identify relatives who may carry a harmful mutation potentially preventing and detecting cancer early in a whole family.

We need a large-scale effort to improve genetic counseling and increase testing rates in the black community. The first step is to make medical providers more aware that black women and men are at risk for carrying BRCA mutations. Numerous studies have shown that the biggest indicator of whether someone undergoes genetic testing is a recommendation from a doctor.

An educational effort would also help to dispel myths that genetic testing is financially prohibitive. Most insurance will cover the costs of testing for people who meet the national guidelines. When I underwent testing in 2014, I paid only $80 after insurance kicked in.

Cancer awareness organizations also need to do a better job of reaching out to the black community about BRCA mutations and the benefits of genetic counseling and testing. Research shows that black women are highly interested in undergoing testing for BRCA mutations once they are presented with information regarding its benefits.

Only one percent of genetic counselors in the United States are black. We need more black health care professionals who have undergone specialized training to provide risk assessment and interpret genetic testing results. This could also help to increase the number of black women who receive genetic testing.

I cannot imagine what it must have been like for my mother to have faced her first cancer diagnosis when she was not even 30 and had a young daughter. What I do know is that I was able to substantially lower my chance of having to battle the same disease because I knew about her BRCA2 mutation. More black families should be empowered with the same information.

Erika Stallings (@quidditch424) is a lawyer.

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Beyoncs Dad Has a Mutation More African-Americans Should Be Tested For - The New York Times

NEW YORK - Singer Beyonce Knowles poses with her father and manager Matthew Knowles June 23, 2005 ... [+] (Photo by Frank Micelotta/Getty Images)

Beyonces father, Matthew Knowles, recently went public with the announcement that he has breast cancer and carries a mutation in a gene called BRCA2.He joinsAngelina Jolieas a celebrity who has shared his private medical and genetic history in order to raise awareness and potentially help millions of patients and health care providers.

Knowless story has several unusual twists. First,he is a man with breast cancer. Many people still dont realize that men can develop the disease,which affects approximately 1 in every 1,000 men every year. Because men, and their health care providers, are not as aware of the prevalence of the disease in men, male breast cancer is often diagnosed at later stages and is associated with aworse prognosis.Any male who has bloody nipple discharge, changes in the breast or nipple, or a lump in his breast, armpit, or chest wall, should bring these findings to the attention of his health care provider, and breast cancer should be considered in the differential diagnosis. Too often, both men and their health care providers ignore the signs that would immediately be explored and treated in a woman presenting with the same findings.

The second twist: Knowles had genetic testing and was found to carry a mutation in thegene called BRCA2. We all have two BRCA2 genes, but people born with a mutation in one of those genes are atincreased risk for several cancers, including breast, ovarian, pancreatic, and prostate cancer.Male breast cancer is seen at higher rates in men who carry a BRCA2 mutation, with a lifetime risk of seven percent as opposed to less than one percent in the general population. BRCA2 carriers also have a higher risk of developing multiple breast cancers.Consequently, Knowles, who currently has breast cancer in only one breast, plans to have both breasts removed to reduce his risk of developing a new breast cancer in the future.

Knowles also acknowledged that his children each have a 50% risk to carry the same BRCA2 mutation. The same is true for his siblings. When someone is found to carry a BRCA2 mutation, their family membersshould each be offered genetic counseling and testing by a trained professional.

The third twist:Knowles is of African American ancestry. Many patients and providers wrongly believe that BRCA mutations are only found in white Jewish women. While it is true that there are three BRCA mutations that are common in men and women of Jewish ancestry, there are thousands of other mutations in the BRCA genes that can be found in people ofallethnic backgrounds. We must begin to offer genetic counseling and testing consistently toallwomen and menwith significant personal or family histories of cancer.

So,who should be offered genetic counseling and testing? ALL men with breast cancer, period. Since Matthew Knowless story broke, Ive read multiple false accounts stating that men with breast cancer should be offered genetic testing onlyif they have a strong family history of cancer or are of Jewish ancestry. Wrong. ALL men with breast cancer are strong candidates for genetic counseling and testing. And importantly, most BRCA and other cancer gene mutations would be missed by the popular at-home direct-to-consumer genetic testing kits. If you need genetic testing for medical reasons,speak to a certified genetic counselor who can help you order a medical-grade test.

Angelina Jolie, Rome (Italy), October 7th, 2019 (photo by Marilla Sicilia/Archivio Marilla ... [+] Sicilia/Mondadori Portfolio via Getty Images)

When Angelina Jolie came out with her story in 2013, referrals to my clinic increased by 40% overnight and awareness of genetic testing and BRCA mutations changed forever. Matthew Knowles has just done the same for male breast cancer, BRCA2, and genetic testing of non-white women and men. His courageous decision to share something so personal will save lives.

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What Beyonces Dad And Angelina Jolie Have In Common - Forbes

Ancestry, the genealogy-focused genetics testing company, on Tuesday announced two new products that will provide consumers with health information based on DNA test resultsa move that places the company "in direct competition with 23andMe," according to STAT News.

What providers need to know about genetic testing and other new clinical innovations

The two AncestryHealth products AncestryHealth Core and AncestryHealth Pluswill look at 17 genes, including:

The products will also test for traits like lactose intolerance and caffeine metabolism. In addition, the tests will include clinical reports that consumers can give to their physicians.

However, the two products provide significantly different services. AncestryHealth Core will provide a one-time report with data based on consumer's DNA microarray. The product will cost consumers $49.

Meanwhile, AncestryHealth Plus will provide a more detailed report to consumers using next-generation DNA sequencing technology. While the AncestryHealth Plus product will initially focus on the 17 genes that the AncestryHealth Core product focuses on, it will technically sequence a consumer's "exome," or" all of the known genes that code for proteins in the body," according to STAT News. However, Ancestry will share only a limited portion of the resulting data with consumers. Consumers interested in the product will pay a one-time fee of $199, plus a $49 subscription fee every six months to receive quarterly reports with updates.

For the new products, Ancestry is teaming up with PWNHealth, a national network of physicians located in New York. For both products, consumers will order a DNA test from the company and complete a survey of their medical history, which is then reviewed by a PWNHealth physician for DNA test approval. The test results, when ready, are then reviewed by PWNHealth providers to ensure that consumers get the right educational materials along with the findingsfor instance, a consumer whose DNA test has potentially worrisome results would also receive an educational video about the condition.

Consumers will also receive video material on DNA testing before getting their results, and, after receiving their results, they will have access to both online resources and, if needed, genetic counselors also from PWNHealth.

According to Business Insider, 23andMe sells many of the same tests Ancestry plans to offer, including reports on carrier status for sickle cell anemia, cystic fibrosis, and Tay-Sachs Diseaseand more than 40 other conditionsfor about $200. 23andMe's tests can also tell consumers if they have an increased risk of Alzheimer's disease or Parkinson's disease, which Ancestry elected not to include.

However, since AncestryHealth will require physicians, rather than consumers, to order the DNA tests, AncestryHealth will operate under CMS' rules for physician-ordered diagnostic testing. In comparison, 23andMe applied for and received FDA approval so that it could make its DNA tests available directly to consumers without a prescription.

Margo Georgiadis, Ancestry's CEO, said the company elected to have doctors order the DNA tests "so that the consumer not only can find out a risk factor, but they can seamlessly take a lab report with clinically recommended guidelines into the doctor's office so that there's a clear next path for action."

Some experts expressed concern over how many genetic diseases the tests will provide information on, and said it's unclear how the patient counseling component of the program will work.

Eric Topol, director and founder of the Scripps Research Translational Institute, voiced concerns about the AncestryHealth Plus product in particular, noting that the American College of Medical Genetics advises providers to share information about harmful mutations in 58 genes with patients who have had their exomes sequenced. The AncestryHealth Plus product is "minimal," he said, adding that while it's "a step in the right direction," it's "not in keeping with consensus and practice in the medical community."

However, Catherine Ball, Ancestry's chief science officer, said the company decided to have its tests focus on only highly actionable diseases because it only wanted to include tests that can "improve outcomes for our customers and for their families."

Separately, David Agus, a professor at the University of Southern California, said, "What people don't get is that genetics are a tiny piece of the puzzle." He noted a study Ancestry and Google published in Genetics that found genes account for less than 10% in differences in people's lifespans.

Laura Hercher, director of research in human genetics at Sarah Lawrence College, said just 2% of patients who don't have a family history of disease would be expected to learn something medically useful from a DNA test. "Some people will get medically useful information from this," she said. But "[f]or most, the idea that DNA testing will help your doctor guide your health decisions is an overstatement" and "premature at best."

Robert Cook-Deegan, a professor at the University of Arizona who studies genome ethics and law, worried that many consumers may not understand their own DNA tests. "A lot of whether this is a good thing or a bad thing depends on the quality of their testing," he said. "It depends on the degree to which those physicians are really involved and the degree to which the genetic counseling is truly incorporated into the process."

Others expressed concerns of whether consumers will know they should be getting a different DNA test than the one they chose. For example, if patients wanted a BRCA1 or BRCA2 test because they had a family history of breast cancer, the AncestryHealth Core test will only tell them if their gene has a common "misspelling," meaning that several specific, cancer-causing mutations could be overlooked, STAT News reports. And while the AncestryHealth Plus test would be more likely spot such an issue if it's present, patients could be better off receiving a DNA test, such as those offered by Myriad Genetics, because those might be covered by insurance.

Robert Green, director of the Genomes2People research program at Brigham and Women's Hospital, said he's concerned patients may wrongly think they're at low risk of a disease because of an incomplete DNA test. "The risk, as with other the consumer genomics, is that patients will think this is somehow a comprehensive and encyclopedic investigation of your entire genomic health," he said. However, he added that "[d]iscovering some people who are carrying significant and actionable mutations is better than finding none of them" (Herper, STAT News, 10/15; Ramsey, Business Insider, 10/15; Brown, Bloomberg, 10/15).

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Ancestry will offer health DNA tests, setting its sights on 23andMe - The Daily Briefing

Breast cancer survivor: I focused on God's promise, not the problem

Sherry Connelly has kept a positive outlook on as she takes her journey through the healing process from breast cancer.

Taylorsville native Sherry Connelly found out she had breast cancer on February 14, 2018.

Happy Valentines day to me, right? I was distraught. I was angry, Connelly admitted. She made sure to get a mammogram every year, but somehow it still slipped through the cracks.

I was like, How in the world did we miss this? She said she first discovered a lump in her breast, and had it checked by her primary care physician. She (Connellys doctor) said it was probably just a cyst, but to be on the safe side she had me go get an ultrasound and tests, she said.

The next doctor told Connelly she also needed a biopsy, which confirmed that she had breast cancer. It was hard, but I just had to look at the bright side; God had something for me to do, she said.

As she went through many chemotherapy and radiation treatments, she kept her mind on God. I just prayed and asked God to give me something to do so I wouldnt just focus on the problem. I wanted to focus on His promise, and not on the problem, she said.

During this time, Connelly played a part in a film called, Black Widows, produced by John Robinson. It was an amazing experience, she said. It kept my mind concentrated on something else, instead of wallowing and thinking, Oh no, am I going to make it?

Sherry Connelly displays her movie "Momma's Baby Boy" that she was working on when she was diagnosed with breast cancer.

Connelly also plans to act in two more films produced by Robinson. More information on the films can be found at http://www.bddentertainment.com.

Another factor that played into Connellys treatment was her support system. My mom shes 88-years-old she came to every treatment and every doctor's appointment. She was right there beside me, she said. My brother came when he could, too.

Connelly said the staff in the oncology department at Frye Regional Medical Center in Hickory was, just amazing.

If I came in and looked like I was not feeling the way I should be feeling, they would call the doctors and let them know," she said. "They would get me anything I needed, and it meant the world to me."

She remembers one nurse in particular Sherri Stone.

She has been amazing," Connelly said. "She would be off, and I could inbox her or call her and she would tell me what I needed to do.

When Connelly was in treatment, Stone was an infusion nurse in the oncology department, but would go above and beyond her job description to help patients like Connelly.

If I needed something, she (Stone) could just tell and she would make that call for me. She made sure that I got what I needed, Connelly said. I love her.

Today, Stone is an oncology nurse navigator and continues to support cancer patients at Frye. Connelly said without that support, battling cancer is much harder.

It means everything for you to have a support system, she said. Youre going to have those days where you just feel like giving up, throwing in the towel. I felt like that, but you have to keep fighting and push through.

People think that cancer is a death sentence, she continued. Its not now. There is so much technology out there to help, and you cant give up. Youve got to keep going.

Connelly is now in remission and plans to continue her acting career as long as she can.

Cancer navigators guide breast cancer patients through the early stages of diagnosis

Cancer navigator Crystal Deese at Catawba Valley Medical Center, discusses how she helps cancer patients navigate the numerous levels of patient care.

Throughout her nursing career, Crystal Deese has played many roles, but oncology has always had a special place in her heart.

Thats the whole reason I went into nursing was for oncology, Deese said. I was in high school when my grandmother was diagnosed with cancer. And I just remember her saying, I wont be here for you to help me, but you can help someone else.

For the last 20 years, Deese has worked with cancer patients in one way or another, whether that is at the start of the cancer journey, at the end of treatment or at the end of the battle with hospice care.

Now, Deese is the interim breast cancer navigator at Catawba Valley Medical Center.

The navigator, I guess you can say, is the middle person that connects them to the surgeon or the oncologist after the initial diagnosis, Deese said. Im the first person that makes contact with them. Me along with the radiologist, when we get the positive pathology report back, we bring them in and then point them to the surgeon.

Deese calls working with cancer patients a calling.

I have a strong faith, she said. ... Its not something that I would have ever chosen to do for money or write anything that way.

She feels the same way about her time working in hospice care.

It was a great honor to be invited into someones home and you be able to be there to take care of them, Deese said. It was a privilege more than anything. Then you get to see them where theyre happy and theyre comfortable, and where they want to be. Not in the hospital setting.

Working as a breast cancer navigator does have its challenges, especially since Deese doesnt have many answers for patients when theyre first diagnosed.

Deese and a radiologist are usually first to tell breast cancer patients that their biopsy came back positive for cancer. They cant really tell them exactly what type of treatment theyll receive or how long, but they can sometimes let the patient know that chemotherapy, radiation and maybe surgery are on the horizon.

Youre the first person to make contact with these ladies, and telling them whenever they get the diagnosis that yes, you have cancer, Deese said. But then we also like to say, yes, you have cancer, but now we know what were dealing with. And no, nobody has this as part of their plan, but now we can get you going in the right steps as to whats next.

When someone is diagnosed with breast cancer, Deese said, the reaction can vary. Sometimes the patient has many questions, and other times they are silent.

Cancer navigator Crystal Deese displays some of the cancer publications that she uses to help cancer patients with their journey.

The initial response, its so mixed, but most of the time its: Am I going to have to have chemotherapy? Will I have to have radiation? Or will I lose my breast altogether? What happens when you meet the surgeon? Deese said. Some have no questions. Some are just so overwhelmed. Theyre like Ill have to call you back, and then there are some that come in with questions.

If a patient has a financial hardship, Deese and the other cancer navigators can assist the patient in finding the right financial assistance programs as well as support groups, transportation services and more.

Deese says keeping up with your yearly breast exams is essential.

I dont think you can stress enough the importance of doing your screening mammograms, she said. Because I believe with the changes and the advances that weve made in treatment, its a very curable diagnosis, if we catch it early enough. So its the screening and prevention I think that can make the biggest difference.

Assessing your risk may help prevent breast cancer from affecting you and your family

By Melissa L. Teague, Frye Regional Medical Center

Most cancers start with abnormal cells growing out of control. Sometimes you will experience symptoms, but often you will not. Thats why cancer high-risk assessment programs are so important. Finding and treating cancer in its earlier stages is potentially lifesaving.

Frye Regionals clinic is staffed by a specially trained high-risk coordinator who helps assess your genetic risk for certain types of cancer including breast, ovarian, colon and uterine cancer. The coordinator gathers information about your background and family history and can help determine if further testing is necessary.

What is genetic testing?

Genes are found in chromosomes and are made up of DNA. We inherit genes from our parents. Our gene structure dictates how our body grows and regulates. When genes are normal, they work properly. When genes are abnormal or damaged, they can lead to disease. These are called gene mutations or changes. Some changes run in families (hereditary), and some happen by chance. A gene mutation can be the sole cause of disease. However, most diseases occur from a mixture of genetic and environmental factors.

Genetic testing looks at your genes to check for any mutations. The test is done with a sample of blood or saliva. There are several reasons why you might do genetic testing:

To diagnose a disease or a type of disease.

To determine the cause of a disease.

To determine treatment options for a disease.

To find your risk of getting a certain disease that possibly can be prevented.

To find your risk of passing a disease to your children.

How can a genetic counselor and/or high-risk coordinator help me know if I should have the screening?

Talk to your doctor if you think you are at risk for an inherited disease. They may refer you to a genetic counselor, who can review your family history and provide advice. They will ask you questions about your health and the health of your blood relatives. This information can calculate what your risk may be. It can help you decide whether you want to get testing. It also may determine if your insurance will pay for the testing.

How do you know who should be tested?

If one of your family members already has the disease, that person should get genetic testing first. This will show if their disease was passed down or occurred by chance. People from different ethnic groups are more at risk of certain diseases.

What does it mean if you are positive or negative?

A positive test result means that you have the gene change. This increases your risk of the disease. However, it does not guarantee that you will get the disease. It does mean you could pass the mutation to your children.

A negative test result means that you dont have the gene change. This may mean the disease doesnt run in your family or wasnt passed down to you. A negative result does not guarantee that you wont get the disease. It means that your risk of the disease is the same as it is for other people.

What about my children?

If your test is negative, you cannot pass a gene to your children; however, if you are positive, you could pass down the gene mutation to your children. It also means your daughters or sons may need closer surveillance for early detection.

Things to consider

Genetic testing has pros and cons. These can change depending on your situation. Keep in mind that genetic testing is voluntary. You should not feel forced to do it.

Some benefits of genetic testing include:

You may be less worried about developing a certain disease.

You may be motivated to change your lifestyle to reduce your risk.

You may be better prepared to move forward with family planning.

You may be able to get treatment to prevent the disease. This could include medication or surgery.

Your doctor will know how often to check for the disease.

Questions to ask your doctor

How do I know if I should see a genetic counselor?

If my genetic testing result is positive, what is my risk of getting the disease?

What can I do to prevent or treat the disease?

Should my genetic testing be done in a clinical setting or can I do it from home?

Breast cancer patients form special bond during treatment

photos Courtesy of Catawba Valley Medical Center

Courtesy of Catawba Valley Medical Center

When nurses noticed the uncanny similarities between breast cancer patients Kathy Rector and Cheryl Kiser, they decided to seat the women together during a chemotherapy treatment at Carolina Oncology Specialists in Hickory.

Rector and Kiser became fast friends, forming a bond over battling the potentially fatal disease and coining a name, Chemo Country Club, with the tagline now accepting short-term members only in honor of the place they met.

We were basically therapists for each other, Kiser said. We shared a wide range of emotions and strength in our determination to beat cancer. We inspired each other, lifted one another up, and found ways to belly-laugh through the process.

Both elementary school teaching assistants, Rector, 63, works with exceptional students at West Alexander Middle School and Kiser, 51, helps in kindergarten and first grade at Sherrills Ford Elementary, where she also drives a bus route.

The women synchronized treatment appointments and remained in touch through texts and calls along the way.

We found empathy, hope and companionship in the common ground of side effects hair loss, nausea, vomiting, nerve pain, and chemo brain, Rector said.

They also drew strength from their husbands, children and faith in God.

How they were diagnosed:

Notably, both women discovered suspicious lumps by self-exam despite having clear 3D mammograms within eight months before diagnosis.

Rector:My sister faced breast cancer two years ago, but we didnt have a family history of the disease before then. When I felt a lump about 2 inches in diameter in the center of my breast during vacation last September, I saw my gynecologist the following week and got the news a diagnosis of triple-negative T2 breast cancer with positive lymph nodes.

Kiser:My mother and grandmother both had breast cancer, so I took the BRCA genetic test to see if I was prone to the disease. Results showed no, but when I felt a lump, I made a beeline to Dr. Elizabeth Restino at Catawba Valley Family Medicine-Southeast Catawba, my primary care physician. She ordered a breast ultrasound and biopsy at Catawba Valley Imaging Center which confirmed the presence of T3 invasive ductal carcinoma, meaning cancer had spread to the tissue under my arm. A PET scan also revealed tumors on my ovaries.

Rector and Kiser both recall the quick transition of initial shock to fierce determination. After the sadness of delivering such emotional news to family and friends over the holidays, they faced the difficult process of telling faculty, parents and students at their schools, which triggered additional worry and a more public form of concern.

Rector continued working through treatments, wearing a mask to minimize germ exposure in the smaller setting of her classroom. But Kiser took a leave of absence given the extended population she came in contact with daily. From here, the battle ensued.

Rector:I had a breast lumpectomy in November, started chemo in December and then began 32 radiation sessions at Catawba Valley Health System Radiation Oncology. Two days after Christmas, my hair started coming out. The more I brushed, the more I cried. I tried wearing a wig, but it gave me such a headache, I decided just to wear hats. Late February, my first grandchild, Aubrey, was born when I was sick. I had to wait two long weeks before traveling to Ocean Isle and hold her in my arms.

Kiser:For me, processing my diagnosis was a God thing. He allowed me to absorb things one at a time. I didnt do research on my own. Instead, I protected my mind and trusted Dr. Orlowskis recommendations to first shrink the breast tumor with chemo before having surgery to remove that breast and my ovaries. As radiation began, Kathy and I had radiation mapping done to identify precise targets for the True Beam radiation system to prevent damage to surrounding healthy tissue. Kathy wanted to compare maps, so we laughed about where they marked an X on my treasure map, and that her map had a whole lot of hills!

Prayers and acts of kindness enveloped the newfound friends during the long and challenging months of their respective cancer treatments. From extended family to people in their church and school communities, both expressed deep gratitude for the uplifting support that saw them through.

Rector:Im extremely grateful for all the people who lifted me up in prayer and the churches that sent handcrafted prayer shawls, which I draped over me during treatments. I was also touched when West Alexander Middle School initiated a fundraiser and wore Team Rector T-shirts in the Cancer Relay for Life.

Kiser:I didnt think I was very vain. But when I lost my hair, I didnt want to leave my room. Austin, my oldest son, had an ongoing bet with his college roommate about who would first cut their hair. Guess what? Austin cut his hair and made a wig for me!

As the women reached key milestones and learned that treatments worked, they celebrated with each other and their whole care teams.

The pair has fond memories of the doctors and nurses who worked to save their lives:

Courtesy of Catawba Valley Medical Center: Kathy Rector (left) and her friend Cheryl Kiser celebrate the end of their chemotherapy treatment for breast cancer at Catawba Valley Medical Center. The two became friends while undergoing treatment.

Debbie, at Catawba Valley Health System Radiation Oncology, who inspired them with her personal story of survivorship; Dr. Reggie Sigmon, radiation oncologist and Len Hurst, medical physicist; Dr. Richard Orlowski, oncologist and Diane Fox, physician assistant, both at Carolina Oncology Specialists; and Wake Forest Baptist Health general surgeon Dr. Kenneth Parrish, general surgeon.

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PINK: Stories and photos devoted to the warriors who fight breast cancer - Hickory Daily Record

Blind and partially sighted people no longer have to wait passively for a research breakthrough in hope of treatment options. In fact, people living with genetic eye conditions can now actively drive vision research forward by enrolling in a patient registry and getting their genes tested.

There are 2.2 billion people living with visual impairment globally. Some are living with inherited retinal diseases that are progressive and can lead to complete blindness. Up until recent years, blind and visually impaired people were told that no treatment is available. This is changing as genetic testing is paving the way for a surge of gene therapies.

My doctoral dissertation at the University of British Columbia was on drug therapy for retinitis pigmentosa. This progressive, blinding eye condition is the most common type of inherited retinal disease.

In people affected by retinitis pigmentosa, the light sensing cells in their retina photoreceptors die early. Unlike skin cells that regenerate, the body does not make more photoreceptors once they are damaged.

As a vision scientist affected by retinitis pigmentosa, I am passionate about finding the truth about the disease. Why do photoreceptors die? How can we stop it? How can science and medicine help?

When I was 12 years old, I realized while at summer camp that my night vision was disappearing. In the last two decades, I lost my peripheral vision, contrast sensitivity and depth perception.

I worked in Dr. Orson Moritzs lab at the UBC department of ophthalmology and visual sciences, which focuses on research using tadpoles that contain known human mutations for retinitis pigmentosa to understand the disease.

I made an alarming discovery in our animal model: knowing the genetic cause of retinitis pigmentosa is vital for treatment with one class of drugs histone deacetylase inhibitors. These determine how genes are switched on or off.

A similar study in mice showed that the same drug reacted differently to variations in a single mutant gene that also causes retinitis pigmentosa.

Treating retinitis pigmentosa is like extinguishing fire. To stop a fire, you need to know whether its water-based or grease-based. If you try to use water to stop a grease fire, the damage gets worse.

Blind and visually impaired people can advocate for eye health by enrolling in a patient registry. Participation in a registry benefits researchers by offering more information about the disease.

In Canada, individuals can self-refer to Fighting Blindness Canadas secure, clinical patient registry. This database is dedicated to connecting people living with retinal eye diseases to clinical trials and research.

When a gene therapy trial arises, researchers draw participants from this database. Since gene therapy aims to correct an underlying genetic mistake in DNA that causes disease, knowing the genetic cause of a disease is a criteria for most gene therapy trials.

Globally, other registries include My Retina Tracker in the United States, Target 5000 in Ireland, MyEyeSite in the United Kingdom, the Australian Inherited Retinal Disease Registry and Japan Eye Genetics Consortium. In New Zealand, Dr. Andrea Vincent has established the Genetic Eye Disease Investigation Unit. There is even a Blue Cone Monochromacy Patient Registry for one rare eye condition.

In the last two decades, the number of gene therapy trials has blossomed. Currently, 250 genes on inherited retinal diseases have been identified. In 2017, the first gene therapy for inherited retinal disease Luxturna was approved by the United States Federal Drug Administration.

To date, there are trials for: retinitis pigmentosa; Usher syndrome, a condition that involves hearing and vision loss; achromatopsia, a disease that causes colour blindness; X-linked retinoschisis, a dystrophy that causes splitting of the retina and affects mostly in males; and age-related macular degeneration, the third-largest cause of vision loss worldwide, caused by the interplay between genetics and environment.

Enrolment in a patient registry and genetic testing advance the design of gene therapy trials. This in turn benefits blind and visually impaired people.

Research advancement is a concerted effort across the globe blind and partially sighted people should know they have the power to push it forward.

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The blind and visually impaired can help researchers by getting their genes tested - The Conversation CA

As a cardiovascular genetic counselor with more than 15 years of experience, I know firsthand the critical importance of identifying genetic risk in a timely manner. Genetic counselors are in a unique position to help patients and their providers navigate medically complex genetic risk factors.

Everyday, genetic counselors are evaluating and providing guidance on the constantly evolving nature of genetic testing. With their advanced training in medical genetics and counseling, certified genetic counselors are able to provide state of the art services, accurately assess risk, identify the right genetic test, ensure correct interpretations of genetic test results and guide patient decision-making.

The National Institutes of Health recognizes that genetic counselors are trained to help patients and caregivers understand the scientific, emotional and ethical factors surrounding the decision to have genetic testing. Genetic counselors use their expertise to collaborate with healthcare providers on the best medical pathway forward for the patient, based on the test results.

Complex genetic tests are rapidly evolving, greatly magnifying the need for Medicare beneficiaries to have access to genetic counselors who can guide them through the complex testing process.

The Medicare program does not reimburse certified genetic counselors directly. Direct access to a certified genetic counselor would help ensure that more Medicare patients receive critical services in time to avoid costly complications and improve health outcomes. This is particularly true for seniors at risk of hereditary heart diseases, cancer or neurological conditions for these patients, genetic counseling is an essential service that is best delivered by a certified genetic counselor.

The Medicare program has not kept pace with changes in innovation and payment for genetic testing and counseling. Congress has an opportunity to address this program failure, and help beneficiaries, by adopting the Access to Genetic Counselor Services Act. The legislation would authorize the Centers for Medicare & Medicaid Services to recognize certified genetic counselors as health-care providers.

The proliferation of genetic testing is exploding, and will only continue to grow in the future. Medicare is expected to spend approximately $23 billion in the next ten years on these tests. Evidence indicates genetic counselors can help drive cost efficiencies by providing guidance about which genetic tests would be most beneficial depending on a patients situation and working with patients and their providers to determine if genetic testing is appropriate.

Genetic counseling services can also help ensure Medicare beneficiaries do not face avoidable complications and are not subjected to additional costs. And Medicare already covers genetic counseling, but the program only reimburses other practitioners to provide it.

To ensure access and address the complexity of genetic testing in appropriate medical care, the National Society of Genetic Counselors (NSGC) strongly supports the Access to Genetic Counselor Services Act introduced in Congress. Sponsored by Reps. Dave LoebsackDavid (Dave) Wayne LoebsackIowa Democrat tops Ernst in third-quarter fundraising for Senate race House Democrats targeting six more Trump districts for 2020 The House Republicans and Democrats not seeking reelection in 2020 MORE (D-Iowa) and Mike KellyGeorge (Mike) Joseph KellyAmerica's workers and small business owners need the SECURE Act House votes to repeal ObamaCare's 'Cadillac tax' GOP lawmaker: 'I'm a person of color. I'm white.' MORE (R-Pa.), the legislation would authorize CMS to recognize certified genetic counselors as health-care providers and reimburse certified genetic counselors for services delivered to Medicare beneficiaries at 85 percent of physician payment levels for the same services.

Research demonstrates that genetic counselors save health care dollars when involved in the testing process and can increase compliance with the recommended medical management plan all priorities as personalized medicine and genetic testing become more prevalent.

The National Society of Genetic Counselors, as well as more than 200 organizations, patients and health-care providers, strongly encourages Congress to enact the Access to Genetic Counselor Services Act, which can make a critical impact on the health of individuals and their families.

Amy Sturm is the president of the National Society of Genetic Counselors' Board of Directors and a professor and the director of Cardiovascular Genomic Counseling at the Geisinger Health System Genomic Medicine Institute.

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Genetic counselors save health care dollars when involved in the testing process | TheHill - The Hill

ALISO VIEJO, Calif., Oct. 15, 2019 /PRNewswire/ -- Ambry Genetics (Ambry), a leading clinical genetic testing lab, will present data at the American Society of Human Genetics (ASHG) annual conference this week from the first prospective study of paired RNA and DNA genetic testing for hereditary cancer risk, called +RNAinsight. The data from this study of the first 1,000 patients to receive +RNAinsight show a significant increase in diagnostic yield (identifying mutations in our DNA as disease-causing) compared to DNA testing alone. This is the first major increase in diagnostic yield for hereditary cancer risk in over 10 years. Through +RNAinsight, Ambry is the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer as a commercially available clinical test.

Standard DNA testing excludes large portions of DNA, thereby missing some mutations that cause increased risks for cancer. In addition, DNA testing for hereditary cancer risk can produce inconclusive results and fail to determine that a variant (an error in our DNA) increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection steps, or certain therapeutic treatments, and relatives may not be referred for genetic testing and subsequently may not be referred for necessary high-risk surveillance. Adding RNA to DNA testing overcomes these limitations for a substantial number of patients as RNA provides considerably more evidence than DNA alone about whether our DNA has variants that increase cancer risk.

At ASHG, Ambry will present data showing that +RNAinsight both (1) identified new variants that increased cancer risk and that would have been missed with DNA testing alone, and (2) determined whether certain variants actually increased cancer risk even though DNA testing alone would have been inconclusive and left doctors without this crucial information.

"Combining RNA and DNA genetic testing lets more people know they have genetic mutations that increase their risks for cancer, empowering them to take action to better manage their cancer risks," said Tyler Landrith, Ph.D., an Ambry scientist who will present the study. "+RNAinsight is the first major, genetic-testing advancement in over 10 years to increase diagnostic yield for hereditary cancer risk."

Dr. Landrith will present data from a prospective analysis of 1,000 patients who received RNA genetic testing (for up to 18 genes). The data show a relative increase in diagnostic yield of 9.1 percent more than DNA testing alone. Adding RNA genetic testing also resulted in a 5.1 percent relative decrease in the number of patients that would have received inconclusive results with DNA testing alone and would not have learned whether they had increased cancer risk.

The prospective study also validated the accuracy of +RNAinsight, establishing a large control dataset of healthy patients. This dataset allowed Ambry researchers to establish a baseline for benign and disease-causing mutations across the genes tested. Dr. Landrith will address the validation in his presentation.

In addition to the prospective study, Ambry Senior Research Associate Blair Conner, M.S., will present data at ASHG showing that RNA genetic testing provided additional evidence to clarify the interpretation of 15 complex variants in genes associated with increased risks for breast, ovarian, colorectal, uterine, and other cancers. Without RNA genetic testing, these variants would have remained inconclusive. This means that past, current, and future patients who otherwise would not have learned they have increased risks for these cancers will now have crucial information to more precisely tailor their medical management for the prevention, early detection, and treatment of cancer.

"An inconclusive result can be unsettling for patients, especially for patients with a strong family history of cancer. Both clinicians and patients may worry that current technology has missed disease-causing mutations in the genes tested," said Ms. Conner. "These data show how +RNAinsight was able to overcome the technological limitations of DNA genetic testing by turning inconclusive results into actionable information for clinicians to better guide patient care."

+RNAinsight is now available through doctors and genetic counselors around the country. For more information on RNA genetic testing, please go to http://www.ambrygen.com/RNAinsight.

For the full list of studies that will be presented at ASHG, please see below:

Oral Presentations:

Wednesday, October 16, 1:00PM - 2:00PM Session 112, Room 310A, Level 3, Convention Center Exome and RNA-based Sequencing Methods for Variant Interpretation to Improve Clinical Utility1:15PM | #197 High-throughput RNA splicing profile increases detection of clinically-actionable variants while reducing inconclusive results in patients with hereditary cancer predisposition. T. Landrith, B. Li, A. Cass, B.R. Conner, S. Wu, H. Vuong, S. Charpentier, J. Burdette, H. LaDuca, T. Pesaran, J. Rae-Radecki Crandall, H. Lu, B. Tippin-Davis, A. Elliott, R. Karam. 1:45PM | #225 Reclassification of splicing VUS in neurological disease genes via RNA-seq. S. Ichikawa, B.R. Conner, S. Wu, R. Karam.

Poster Presentations:

Poster# 990W: Wednesday October 16, 2:00PM - 4:00PMLeveraging tumor characteristics to predict germline variant pathogenicity in mismatch repair genes. S. Li, D. Qian, B.A., Thompson, S. Gutierrez, T. Pesaran, H. LaDuca, H. Lu, E.C. Chao, M.H. Black.

Poster# 2449T: Thursday October 17, 2:00PM - 4:00PMRNA-seq identifies structural variants in hereditary cancer genes. B. Conner, M. Richardson, F. Hernandez, T. Landrith, T., McBride, B. Tippin-Davis, R. Karam.

Poster#1454F: Friday October 18, 1:00PM - 3:00PMAccounting for splicing effects in known missense variants improves in silico prediction of deleterious effect. D. Qian, J., Clifford, A. Tchourbanov, Y. Tian, M.H. Black, H.M. Lu, Z. Zhu, S. Li.

ABOUT AMBRY GENETICsAmbry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visit ambrygen.com.

For more information on risk factors for hereditary cancer, please visit cancer.gov's fact sheet on hereditary cancer and genetic testing.

Press Contact:Liz Squirepress@ambrygen.com (202) 617-4662

View original content:http://www.prnewswire.com/news-releases/new-data-from-ambry-genetics-demonstrates-impact-of-first-major-advancement-in-over-10-years-to-increase-diagnostic-yield-in-genetic-testing-for-hereditary-cancer-risk-300938313.html

SOURCE Ambry Genetics

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New Data from Ambry Genetics Demonstrates Impact of First Major Advancement in Over 10 Years to Increase Diagnostic Yield in Genetic Testing for...

While current national and international guidelines recommend genetic testing in women with breast cancer who have relevant family history or clinical criteria, patients with breast cancer and genetic pathogenic variants do not always have a positive family history, potentially leading to improper screening for at-risk women. A recentstudyinJAMA Oncologyestimated incremental lifetime effects, costs, and cost-effectiveness of multigene testing of all patients with breast cancer compared with the current practice of genetic testing (BRCA) based on family history or clinical criteria.

The microsimulation modeling study compared lifetime costs and effects of high-riskBRCA1/BRCA2/PALB2(multigene) testing of all unselected patients with breast cancer (strategy A) againstBRCA1/BRCA2testing based on family history or clinical criteria (strategy B). Both strategies were evaluated with United Kingdom (UK) and US populations.

Have you seen:GBCA breast MRI images - Part 1

Data were collected and analyzed from January 1, 2018 through June 8, 2019. Four large research studies supplied data from 11,836 patients in population-based BC cohorts (regardless of family history). The women in these cohorts were predominantly white and representative of a Western population ethnicity.

For the model, all women with breast cancer underwentBRCA1/BRCA2/PALB2testing in strategy A. In strategy B, only women with breast cancer fulfilling family history or clinical criteria underwentBRCAtesting.BRCA/PALB2carriers could undertake contralateral preventive mastectomy, whileBRCAcarriers could also choose to undergo risk-reducing salpingo-oophorectomy (RRSO). Those whose relatives were mutation carriers also underwent cascade testing. Unaffected relative carriers could undergo magnetic resonance imaging or mammographic screening, chemoprevention, or risk-reducing mastectomy for breast cancer risk and RRSO for ovarian cancer risk.

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Is it cost-effective to do genetic testing on all women with breast cancer? - Contemporary Obgyn

As DNA sequencing becomes more common, providers face a dilemma over how much information they should reveal to their patients about their risks for untreatable conditions.

What providers need to know about genetic testing and other new clinical innovations

Clinics and research groups that perform genetic testing typically limit their reporting to 59 gene variants recommended by the American College of Medical Genetics and Genomics. The list includes certain disease-causing variants for heart disease or breast cancer, for example, but not variants for conditions that aren't treatable, such as amyotrophic lateral sclerosis or Alzheimer's disease. As such, test results usually include only information that is "medically actionable."

To some providers, this limitation makes sense. They argue that giving patients results about genetic traits that aren't fully understood or medically actionable could lead patients to seek unnecessary or harmful care, or worry about a disease they may never get.

For similar reasons, NIH's All of Us genetic testing research program doesn't plan on returning results to patients that researchers deem not to be actionable. Brad Ozenberger, genomics program director for All of Us, said, "We don't want to frighten people, have them potentially change medical care, unless we're really confident in that result."

Separately, Keith Stewart, director of the Mayo Clinic's Center for Individualized Medicine, said, "There is a risk of causing undue anxiety."

However, some providers argue researchers shouldn't pick and choose what genetic information they provide to their patients.

Robert Green, a geneticist and professor at Harvard Medical School, said, "It's their body and their DNA. We have a responsibility to scientific truth and clear communication."

Studies have found patients want this information as well. For example, a 2016 paper in the Journal of Genetic Counseling found that 72.5% of research participants surveyed wanted to receive all of their genetic testing resultseven those related to untreatable conditions.

Green published a separate study in the New England Journal of Medicine involving patients who were told they had a genetic risk of Alzheimer's disease. Although patients experienced "transient, modest distress," 98% said they would get their test results again.

Similarly, last year, Geisinger, a health system in Pennsylvania, started offering some patients information about their genetic risks for brain disorders, including some conditions that are largely untreatable, the Journal reports. Almost 90% of the patients said they wanted the results.

Sara Kirkland, a participant in Geisinger's sequencing program, said of the decision, "Am I total comfortable? No. But I'm rarely comfortable with any decision we reach because this stuff is really complex. I am willing to say that it is a responsible approach to take" (Evans/Wilde Mathews, Wall Street Journal, 10/4; Owens, "Vitals," Axios, 10/7).

More here:
If your DNA test reveals you're at risk of an untreatable condition, would you want to know? - The Daily Briefing

Color, the genetics testing company, is partnering with Alphabets health technology-focused subsidiary, Verily Life Sciences, to provide to the companys Baseline Health Study participants information from its genetic tests.

The emphasis from both companies is on providing actionable results.

While genetic testing services have caught the publics imagination for their ability to provide insights into an individuals ancestry, the technology has proven to be less effective in providing insights on health that are accurate enough to be clinically relevant.

Through the partnership, Project Baseline Health participants will be able to access Colors physician-ordered genomics testing services and the companys board-certified genetic counselors and pharmacists to help them understand what their genetic tests indicate about their risks for certain cancers and heart disease, and genes that can effect medication responses, the company said.

Offering the Color genetic testing services is another way Verily is trying to entice people into its attempt to provide a map of overall population health using the latest in data science and testing technologies.

Colors genetic tests can be ordered online with participants taking their own samples at home. Users then receive counseling over the phone and tests are done in a matter of weeks, according to the company.

By offering Colors consultation services, Verily is hoping to ensure that the genetic information that participants in its Baseline study are providing benefit individuals as well as the studys architects.

See the article here:
Verily, Alphabets other money-making, non-Google business, partners with Color on genetic analysis - TechCrunch

The average adult takes more than four medications and many of these medications are used to control issues originating from genetics. Phosphorus is the DNA testing platform that wants to revolutionize healthcare by encouraging people to take genetic tests well before they potentially get sick. The companys flagship product, PhosphorusOne, is an at-home genetic test using a saliva sample. The sample is then sent to the lab where scientists extract and sequence your DNA, to detect diseases that are caused by multiple genes including the eighty-three genes that lead to a variety of inherited cancers and the one hundred fifteen genes that are known to cause cardiovascular disease.

AlleyWatch sat down with Alex Bisignano to learn more about creating an accessible and affordable genetic test to improve healthcare and the companys future plans.

Tell us about the product or service that Phosphorus offers.

Phosphorus is pioneering the use of DNA testing for preventive medicine to transform healthcare. We help customers stay healthy by understanding their genetic risks for diseases, enabling them to take preventive action when necessary. We also provide a genetic testing platform that helps healthcare providers bring state-of-the-art preventative genomics solutions to patients.

How is Phosphorus different?

Most genetic testing is done following arcane medical guidelines. Typically, this means patients are offered very expensive tests only after theyve been diagnosed with a cancer, or heart condition, or worse have experienced a major medical incident. Our test is built on the newest (Next Generation Sequencing) technology and is at a price point where we can get patients tested before they get sick and help prevent these diseases. We also provide, what I believe, is the most comprehensive and actionable genetic test for your health.

What market does Phosphorus target and how big is it?

Phosphorus is targeting healthcare providers ranging from individual physician practices through large health systems to help them offer testing to their patient populations. We also offer a product the PhosphorusONE test that people can purchase on our website. This means anyone interested in taking a more proactive approach to their health by understanding their genetic risks for disease can do so.

What is the business model?

In addition to offering our test direct to consumers, we offer a private labeling option. We help healthcare providers offer genetic testing for preventative health, which is done at our laboratory in New Jersey for a fee per test. We also offer a technology and software license that enables larger providers to deploy our technology within their own laboratory facility for a licensing fee.

What inspired the start of Phosphorus?

My last company was a genomics company called Recombine (exited in 2016 for $85M to CooperSurgical). We provided genetic testing to fertility clinics. I noticed that while we were able to help more than 100K couples through their fertility journey, the scope of what we could test for and access to our testing was limited to the urban, wealthy, and highly-insured population. In fact, fewer than 5% of adults have ever had a genetic test for medical decision making. With Phosphorus, our goal is to make sure that everyone has access and that we are able to provide this access before they get sick, so we can prevent disease and suffering.

Who do you consider to be your primary competitors?

The major genetics laboratories out there are Invitae and Ambry Genetics. Theyre awesome companies that helped define the first part of the industry. But they follow a classical, guidelines-based reference lab model samples go to their lab when patients meet arcane medical guidelines (after patients are already sick). Our business model wants to change not just when testing is done (before patients get sick), but to help the hospitals and providers do it within their own laboratory or facility.

What are the milestones that you plan to achieve within six months?

In the past year, weve brought on our first half dozen laboratory partners, and we expect to double the number of institutions on our platform by mid-way through 2020. Most exciting we expect to launch our first partnership with a major health system in mid-2020 as well.

In the past year, weve brought on our first half dozen laboratory partners, and we expect to double the number of institutions on our platform by mid-way through 2020. Most exciting we expect to launch our first partnership with a major health system in mid-2020 as well.

What is the one piece of startup advice that you never got?

Everyone talks about the importance of building the right team. But what makes the right team, I believe, is different for every organization. Having a team that is resilient, that puts their trust in you, whether the challenges and successes is so important. Make sure you value the team and be intentional about praise and reward.

If you could be put in touch with anyone in the New York community who would it be and why?

Jim Simons The Simons Foundation. I greatly admire his push of basic science for the benefit of humanity. Id love to get his perspective on genomics both in whats possible and the reality of where we are today.

Why did you launch in New York?

This city is amazing and full of incredible opportunities. Just being here exposes the company to extra surface area for luck: meeting talent, investors, customers and more. The drive to improve and do more is embedded in our culture in large part due to the influence of NY.

Whats your favorite restaurant in the city?

This is the toughest question yet! Sadly, having been here 10 years, Ive learned not to get too attached. My longest-standing relationship is Dos Toros. I have it for lunch possibly every day.

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Phosphorus Enables You to Take a Proactive Approach to Healthcare through Genetic Testing - AlleyWatch

Choosing a preventive double mastectomy wasnt easy for Nina Garcia. But after years of internal debate and genetic testing that revealed a likely higher risk for breast cancer, the Project Runway judge and editor-in-chief of Elle magazine got the surgery earlier this year. And now she says shes stronger and more grateful than ever before.

Garcia, who spoke to Know Your Value during Octobers Breast Cancer Awareness Month, said she questioned several times whether she was making the right decision to get the surgery.

Its such a difficult, personal choice, but I know I made the right call for me, said Garcia, who also wrote an essay about her journey for Elle in February.

I am proud of being proactive about my health, and the constant anxiety of will it be cancer this time? is gone, Garcia added. I also feel immensely grateful that I was able to take my health into my own hands.

Garcia spent years wrestling with the decision, however. Spurred by family history of breast cancer, she underwent genetic testing in 2015, which revealed she had a mutation to the BARD1 gene, which interacts with the more well-known BRCA1 gene.

Doctors believe the mutation increases cancer risk too, but data are scant so Garcia had no clear direction for her particular case. For three years, she was monitored and received additional tests. Results from January led Garcia and her doctors to move ahead with the preventive mastectomy.

Since the surgery, Ive learned to be thankful, Garcia said, for my own health, my family, my work, my friends. Every morning I remind myself of all the things Im thankful for. That morning list is helping me become stronger and a better person.

Garcia, a Colombian immigrant, is also grateful to have insurance that provided her with excellent care, as she knows many women around the world dont have that luxury. She is also hosting this years symposium and luncheon for the Breast Cancer Research Foundation, a charity that is the worlds largest private funder of breast cancer research.

Shes active in spreading in story because she learned that transparency is powerful. Garcia wants other women who may want to share their health struggles to know they dont have to be scared to appear vulnerable.

RELATED: How I learned to face my biggest fear and get genetic testing for breast cancer

I received more emails, texts, calls, and notes than I ever have in my life after announcing publicly, Garcia said. I thought I was inundated with support when I started as editor-in-chief of Elle, but the outpouring of love I received after announcing my decision to undergo surgery was simply unmatched.

Garcia added that she wants women to know that being diagnosed with breast cancer isnt a death sentence and a diagnosis is nothing to be ashamed of. We always need to remind ourselves that prevention is key. There is also a beautiful community of women out there, a community I could not be prouder to be part of."

Garcia found that community during her own health journey, which she said was invaluableand thats the approach she takes in her career, too.

I like to think that you are as good as your team, she said about her workplace management style. Ive learned to surround myself with people that I can trust, who will always tell me truth. I can count on them to be honest and transparent. I know that we will always be rowing in the same direction.

Read more from the original source:
Nina Garcia on life post-mastectomy: 'I've learned to be thankful' for every new day - NBCNews.com

Since the 1970s, genetic screening has been standard practice during pregnancy. The goal of this kind of genetic testing has historically been to understand the likelihood an embryo carries a heritable disease, the classic example being the recessive genes for autosomal recessive disorders like cystic fibrosis, sickle cell anemia, and Tay Sachs, or tests that determine developmental disorders like Down Syndrome. This allows parents to make informed choices about ending pregnancies and planning ahead for potential issues. But as genetic technologies develop and gene editing becomes more widely practiced the possibilities are not limited to observation. As Dr. Robert Klitzsman writes inDesigning Babies: How Technology is Changing the Way We Create Children, genetic testing in the context of IVF is already giving us a glimpse of the ways in which the proliferation of new technologies could affect the genome of future children and future generations. And its not all good news.

Klitzman, Director ofColumbia Universitys Masters of Bioethics Program, suggests that progress has not been accompanied by adequate oversight or regulation. What are the limits of genetic screening, genetic testing, and gene editing technologies? The answer has as much to do with what risks are deemed acceptable and what risks are not. Designer babies are no longer the stuff of science fiction, but would-be parents arent exactly in a DNA Build-a-Bear. A transition is underway and Klitzman believes that parents need to understand the bleeding edge of whats possible to have the necessary context to understand the technologies they are using even in the process of basic screenings.

Fatherly spoke to Dr. Klitzman about the current state of genetic testing and the potential risks of emerging technologies.

Expecting parents likely understand one side of genetic testing, screening for heritable diseases. But new technologies and new discoveries mean that we can do more with genetic information and with genes themselves than ever before. So what are the limits of the current technologies?

A few years ago people thought wed find the cancer gene or the fat gene. But now we know that for most common diseases and most complex traits there are many genes involved. Sure there are certain genes that increase the risk of cancer from, say, 5 or 10 percent. But in genetic screening for diseases people should realize that, for a lot of diseases, the world is more complicated than just screening an embryo.

So its the old debate: nature or nurture? The answer is both. For a lot of traits, genetics explains the part but not all of the risk of the disease. So you may undergo genetic testing or you may screen embryos and the child may still get certain diseases. So its not always foolproof.

But its better than nothing.

Its important for parents to get tested to see if they have recessive conditions particularly if its in their family. If anyone has cystic fibrosis in their family, they should be tested to know. If theyre a carrier, they should see if their spouse is a carrier. If anyone has breast cancer in their family, they should be tested to see if they have that mutation. I think people with sickle cell disease should be tested for that. I think any woman who is over 35 should have the embryo tested for down syndrome and other chromosomal abnormalities. So I think there are certain diseases.

But, through evolution, most diseases for which there is a very predictive genetic test tend to be rare. If there was a terrible gene that was wiping out people, it wouldnt be getting passed on. The only genes that get passed on are not going to be from really terrible mutations because they would kill the people and by and large they wouldnt have any kid.

Its interesting that you point out the limits of genetic testing technologies because youre also a strong advocate for increased access.

I think insurance should pay for genetic testing. If a couple is concerned because their cousin has cystic fibrosis or someone in their family has sickle cell disease and wants to get tested, that should be covered. It may not be covered now so I think thats another set of policies that need to change. And part of that I think there needs to be more genetic counseling, which insurance also doesnt cover. The laws havent kept up with the technology. Our technologies advanced way ahead of our legal system and our duty to understand and figure out what to do with that of ethical legal and social questions involved.

A lot of the thornier issues you write about involve preimplantation genetic diagnosis, which is genetic testing post-conception and prior to pregnancy in the context of IVF. How are the decisions made by would-be parents undergoing PGD different than the decisions being made in the context of normal genetic testing?

Right now, we genetically screen embryos. When a couple undergoes IVF, lets say they create eight embryos. Doctors could say, These four are the girls, these four are the boys. Now, lets say a family has a history of breast cancer or the mother has the BRCA gene which carries breast cancer. The doctors could say, These three embryos have breast cancer gene these five dont. And the couple can choose the ones that dont.

Also, increasingly couples can say, Well, I just want a boy. And that creates a number of ethical challenges as opposed to letting Mother Nature do whatever it would do.

So theres potential in that specific context to take action in a way thats not possible in typical screenings. How much of that action is embryo selection versus actual gene manipulation?

We can take genes out. Theres a gene associated with Huntingtons disease or the BRCA breast cancer gene. We now have the technology to take them out.But these technologies are still in an experimental phase. And Im concerned that theyll soon be made fairly widely available even though there still may be risks involved and people may or may not fully appreciate those risks.

A few years ago, a doctor in China used CRISPR to edit the genes of twin girls. That opened brought a lot of criticism but also raised awareness of what can be done with this technology.

Thats right. So what Dr. He Jiankui did is that he worked with fathers who had HIV. There was a concern that the father could potentially pass HIV onto the child. And so he took the embryo and disabled the CCR5 gene that is involved in letting HIV get into a cell. The problem is that when you disable that gene, the risk of getting HIV goes down but the risk of getting influenza getting in goes up as do other risks.

DNA consists of three billion molecules. Each of us is a shelf of books in an office that has three billion letters in them. Well, if you go in and rip out some letters, you want to make sure you rip out the right ones. And so it looks like Dr. He didnt do it so precisely. So in fact what he said he took out wasnt exactly what he took out. In other words, if a child is born and missing part of the DNA, that part might be the next gene thats involved for, say, brain development or something like that.

You need to be very, very careful.

Presumably, the ethical questions get more complicated when gene editing becomes a more widely available procedure.

Until 60 years ago, we didnt even know what DNA did. We now have the ability to identify genes and were increasingly finding genes that are associated with not only various diseases but also human traits those associated with blonde hair and blue eyes, those associated with height and perfect pitch.

I think CRISPR probably will be used for people wanting or not wanting certain socially desirable or undesirable traits in their children.

A Gattaca situation.

Yes, exactly.

This interview has been condensed and edited for clarity.

Original post:
Gene Editing Is Creating a New World of Designer Babies. Are We Ready For It? - Fatherly

U.S. Attorney's Office in the Eastern District of Louisiana issued the following announcement on Oct. 9.

The Justice Department announced today that UTC Laboratories, Inc. (RenRX) has agreed to pay $41.6 million, and its three principals, Tarun Jolly, M.D., Patrick Ridgeway, and Barry Griffith, have agreed to pay $1 million to resolve allegations that they violated the False Claims Act by paying kickbacks in exchange for laboratory referrals for pharmacogenetic testing and for furnishing and billing for tests that were not medically necessary. RenRX, a laboratory company headquartered in New Orleans, Louisiana, also agreed to a twenty-five year period of exclusion from participation in any federal health care program.

The payment of kickbacks in exchange for medical referrals undermines the integrity of our healthcare system. Todays settlement reflects the Department of Justices commitment to ensuring that taxpayer monies are well spent and not wasted on unnecessary medical testing, said Assistant Attorney General Jody Hunt of the Department of Justices Civil Division.

Healthcare fraud, in any incarnation, hurts patients, honest medical practitioners, and all of the nations taxpayers, said United States Attorney for the Eastern District of Louisiana Peter G. Strasser. The favorable resolution of this False Claims Act matter illustrates the collaborative efforts and firm commitment by our federal partners to use all available remedies, both civil and criminal, to address signs of waste and abuse by providers in our healthcare markets.

The government alleged that between 2013 and 2017, UTC and its principals offered and paid remuneration to physicians to induce the ordering of pharmacogenetic tests, purportedly in return for their participation in a clinical trial known as the Diagnosing Adverse Drug Reactions Registry (DART), clinical trial identifier NCT01970709. The government also alleged that UTC and its principals offered and paid remuneration, including sales commissions, to entities and individuals as part of the scheme, and furnished pharmacogenetic tests that were not medically necessary and billed the Medicare program.

Original source can be found here.

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ATTORNEY'S OFFICE OF LOUISIANA: Genetic Testing Company and Three Principals Agree To Pay $42.6 Million to Resolve Kickback and Medical Necessity...

Depressive disorders are among the most common conditions that disrupt lives. Fortunately, medications, psychotherapies, and lifestyle changes are usually successful in treating depression and related disorders, even if symptoms are not entirely eliminated. Sometimes people dont gain sufficient relief from treatment, or must try several medications before finding one that works well. In an age of exciting advances, including brain imaging and genetic testing, many doctors and patients reasonably hope that new technologies will offer answers. And in fact, for antidepressant choice, several companies sell genetic testing as a means to guide treatment. But do these tests work?

Genes determine some of our risk for depression and some of our response to treatment. However, no single gene or small number of genes determines much of either in the general population. And the few genes used in the current commercial test panels do not appear to be the key genes determining risk or response. Some of the genes tested are related to drug metabolism. These genes can affect drug levels in the blood, but generally dont predict clinical response. Other factors, including age, diet, hormonal state, gut bacteria, and any other concurrently taken drugs, are far more important in determining how a person metabolizes a drug and responds to treatment.

Most people with depression improve with careful evaluation of all of these factors, appropriate antidepressant choice and dosing according to expert guidelines, as well as follow-up care to monitor treatment response and address any side effects. Currently, there is no scientific evidence that gene tests are needed or would be helpful as part of those assessments.

A dozen studies focusing on patients with depressive disorders have reported outcomes from using commercially available gene test panels to guide antidepressant choice. Most studies were completely unblinded that is, doctors and patients knew a special test was given. Even with that bias, the use of gene results showed no evidence of effectiveness. A few studies were partially blinded, but doctors and patients still knew some patients got a special test. In these studies, too, the tests failed to show value on their key measures of efficacy.

Notably, many patients had not responded well before entering a study because they were receiving inappropriate treatments. They improved when switched to more standard treatments. However, the same changes would have been made without guidance from the test if the treating clinicians had simply followed good practice, rather than getting an unproven and expensive genetic test. And our ongoing review of newer studies on these tests suggests similar flaws and no further evidence favoring their use.

Against this background, experts with no financial interest in genetic testing have repeatedly recommended that genetic tests should not be used in choosing treatments for depression (see here and here). The American Psychiatric Association convened a task force that reviewed the evidence and agreed: the tests should not be ordered.

Recently, the FDA advised that the tests had no proven value and should not be used. Then they went two steps further, stating that use of the tests could lead to inappropriate treatment choices that might harm patients. Additionally, the FDA sent a warning letter to one company and has contacted others selling the tests, advising them that they cannot legally make specific recommendations to clinicians or patients based on their test results.

Genetic testing is appealing, both to vulnerable patients and time-constrained doctors. And it is vigorously marketed to both parties by the companies that sell it: through news reports, websites, television, and magazines, and to doctors in their offices. There are few restraints that hold that marketing to the facts, yet the facts are clear in evidence summarized by numerous experts and agencies. Currently available genetic test panels have no proven value for choosing antidepressant treatment, and their use risks providing inappropriate care. So, while gene testing can be very useful for some other conditions, notably some cancer treatments, that success does not yet apply in treating depression. Perhaps this will change with more research, but appropriate tests are years away.

In the meantime, there are many good and effective actions to take if treatment is not working well. You and your doctor can

When a medication change is needed, the clinician treating you should follow available guidelines (such as these) or help you obtain a consult from a mental health professional who is more knowledgeable about psychiatric medications. Psychiatry consultations are available at most hospitals and clinics; some hospitals offer these consults by phone or through their websites.

See the article here:
Gene testing to guide antidepressant treatment: Has its time arrived? - Harvard Health Blog - Harvard Health

When Angelina Jolie broke the news about her genetic testing results, a new day dawned for cancer treatment. By opening up about her medical decisions to prevent cancer before it started, she shone a bright light on the positives and negatives of genetic testing for cancer.

So why did she do it?

Research has shown that up to 10% of cancers are caused by factors passed from one generation to the next. These syndromes are known as hereditary cancers, and genetic tests can determine a persons risk for developing these cancers.

Medical professionals get concerned when we see red flags for hereditary cancers that include family members with:

A diagnosis of cancer at a young age.

Several family members with cancer.

Relatives with more than one type of cancer.

A history of different cancers in the same person.

Rare or unusual cancers, such as ovarian cancer, pancreatic cancer, or male breast cancers.

Ashkenazi or eastern European ancestry.

There are many benefits to getting tested, regardless of the eventual result. If one of your family members had cancer, there is a chance that you inherited a gene mutation that not only increases your personal risk of cancer, but also could be passed to the next generation. Those who are carriers of hereditary cancer gene mutations could be at risk of getting cancer earlier in life than the general population. The sooner genetic testing is done, the more likely it is that the risk can be managed appropriately.

If you have had cancer at a young age, a rare cancer, or if cancer occurs frequently in your family, genetic testing may be an important first step for you. If a greater-than-average risk of cancer is found, there are a number of things you and your health-care professional can do to manage that risk.

You might be advised to have more frequent screening to help detect cancer at an earlier, more treatable stage and improve cancer survival. Your health-care professional may recommend preventive strategies, including risk-reducing medications or surgeries, that may reduce your risk of developing cancer. You and your health-care professional can make more informed decisions on your treatment options.

Test results can help your relatives learn more about the inherited risk and how it may affect them.

In addition, family members who do not carry mutations that increase their cancer risk may avoid unnecessary medical interventions. These results also provide valuable information for use in customizing medical management plans, can help your health-care professional make a timely and accurate diagnosis and assist your health-care professional in making important decisions about the management of your disease.

Genetic testing is not for everyone, but if you or your family members have any of the red flags mentioned above, call patient navigators Catherine Gaines or Windy Christy at Gibson Prevention Center to schedule an appointment for further evaluation at 910-671-5357.

Christy

Windy Christy is a physician assistant and patient navigator with Gibson Prevention Center at SeHealths Gibson Cancer Center.

Link:
A genetic cancer risk test is a valuable preventative tool - The Robesonian

Verily Life Sciences, Alphabet's health research arm and sister company to Google Health, announced it'spartnering with genetics and health technology firm Color to supply participants of Verily's Project Baseline research platform with genetic information. Business Insider Intelligence

Project Baseline began in 2017 with goals of making clinical research more accessible to participants and arriving at a quantifiable "baseline" for good health. The research project has since launched several clinical research projects in partnership with some of the largest names in healthcare, including: Pfizer, Mayo Clinic, Novartis, the American Heart Association, and Stanford Medicine.

The partnership could enable Verily to incorporate data on genetic risk factors into its various clinical studies, leading to a more in-depth and holistic understanding of health.It's unclear exactly how information gleaned from Color's genetic tests will be leveraged in Project Baseline studies, but it's possible that future research initiatives may choose to examine how genetic risk factors affect health outcomes alongside patients' behavior and medical history.

And allowing Project Baseline members access to genetic testing and personalized health advice may improve participant engagement with the particular research program they're involved in and with the Project Baseline platform overall, which is critical given that86%of clinical trials fail to hit their participation goals.

We caught up with Color CEO Othman Laraki to discuss how a Verily-Color tie up furthers Color's goals for a genetic future of healthcare below are some key takeaways from our conversation:

We think Color will benefit from the exposure that comes when partnering with a Google-affiliated business, and more users should facilitate stronger population health insights.In the last two months, Color has scored massive partnerships with NIH and its All of Us program and now Verily: two major names in healthcare. And each new project raises not just Color's profile, but that of the genetic testing field as a whole, according to Laraki.

Laraki pointed out that the idea of every home having a personal computer was once considered crazy and that one day it may be the case that genetic data is as commonplace in healthcare as computers are in the home. But this might only be possible if far-reaching research programs like All of Us and Project Baseline can successfully attract participants and deliver actionable results.

Color has become a standout player in genetic testing by focusing on large-scale population health projects which I (Zach) think is a smart business model in the face of apotential slowdownin the direct-to-consumer genetic testing market."In some ways, using a doctor's time to measure your height and have them listen to your heartbeat is almost more expensive now than getting a complete genomic profile," says Laraki.

And the fact that genetic testing is becoming cheaper for consumers could be part of why we're seeing so much interest from providers and research firms in population-level genetic health research: MIT Technology Review now estimates that over100 millionpeople globally will have taken an at-home genetic test by 2021, up from the 26 million consumers at the beginning of 2019, for example.

With industry leaders like Illumina expressing concerns around a potential slowdown for the direct-to-consumer genetic testing market, a model that's given rise to 23andMe and Ancestry the two biggest names in genetic testing today I think that Color's model will conversely gain traction as providers are increasingly becominginterestedin moving beyond individual patient results and searching for the root cause of conditions affecting their communities.

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Alphabet-backed Verily partners with Color to bring genetic insights to its research - Business Insider Nordic

WALTHAM, Mass.--(BUSINESS WIRE)--PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today introduced its PG-Seq Rapid Non-Invasive Preimplantation Genetic Testing for Aneuploidy (PGT-A) kit. This solution tests spent embryo culture media for chromosomal abnormalities during in vitro fertilization (IVF) treatment.

PGT-A is used to identify viable embryos, so the transfer or storage of embryos with an incorrect number of chromosomes can be avoided, as those typically lead to failed IVF cycles. Traditionally, PGT-A requires a biopsy of a developing embryo by creating an opening in the outer coating prior to removal and testing of a few cells. However, recent studies have shown that an embryo releases small amounts of DNA into the culture media in which it is growing, allowing the surrounding fluid to be genetically tested instead.

PerkinElmers PG-Seq Rapid Non-Invasive PGT-A kit is specifically designed for this type of sample, which enables embryos to remain fully intact. Leveraging the science behind PerkinElmers biopsy-based PG-Seq kit 2.0, the new non-invasive kit tests the spent embryo culture media to accurately detect aneuploidies, as well as structural rearrangements, including unbalanced translocations and segmental errors.

The kit is a modified version of the new PG-Seq Rapid kit, a three-hour sample preparation workflowless than half of the sample preparation time compared to the PG-Seq kit 2.0 workflow.

Data from a global network of 15 laboratories who have provided samples, shows it is possible to achieve more than 90% correlation between results of biopsied embryo and spent embryo culture media with the PG-Seq Rapid Non-Invasive PGT kit, said Masoud Toloue, Ph.D., vice president, Diagnostics, PerkinElmer. By eliminating the risks associated with performing a cell biopsy, PGT-A becomes more broadly accessible. IVF providers can significantly increase the likelihood of successful embryo transfers and reduce time to pregnancy.

From what weve observed so far, the results look excellent, and we are looking forward to further developing our non-invasive PGT program, said Manuel Viotti, PhD, senior scientist, Zouves Foundation for Reproductive Medicine, Zouves Fertility Center.

PerkinElmer will showcase the PG-Seq Rapid Non-Invasive PGT-A kit and other next-generation workflow solutions at the 75th annual American Society for Reproductive Medicine (ASRM) Scientific Congress, October 12-16, in Philadelphia.

For more information, please visit booth #901 at ASRM or click here.

About PerkinElmerPerkinElmer enables scientists, researchers and clinicians to address their most critical challenges across science and healthcare. With a mission focused on innovating for a healthier world, we deliver unique solutions to serve the diagnostics, life sciences, food and applied markets. We strategically partner with customers to enable earlier and more accurate insights supported by deep market knowledge and technical expertise. Our dedicated team of about 13,000 employees worldwide is passionate about helping customers work to create healthier families, improve the quality of life, and sustain the wellbeing and longevity of people globally. The Company reported revenue of approximately $2.8 billion in 2018, serves customers in more than 180 countries, and is a component of the S&P 500 index. Additional information is available through 1-877-PKI-NYSE, or at http://www.perkinelmer.com.

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PerkinElmer Launches PG-Seq Rapid Non-Invasive Preimplantation Genetic Testing Kit as Alternative to IVF Embryo Biopsies - Business Wire

Updated: May 25, 2018:

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Investigations Newsletter: Genetic Testing Company and Three Principals Settle FCA Allegations for $42.6 Million - JD Supra

The child was critically ill. The treating team at Childrens National Hospital in Washington, DC, was stumped and worried that time was running out. Every test was coming back negative.

Genetics was called in to look for chromosomal mutations that might suggest the source of the problems. The geneticist recommended whole-exome sequencing, which tells a story based not only on all of the childs genes, but on two additional sources as well: the mothers and the fathers genes.

They found something they werent looking for. The father, the worried man in the waiting room who raised this child, wasnt the biological father. In genomics its called an incidental finding, and it raises huge ethical questions: Do you reveal this to the parents? Only to the mother? Or, if the results dont affect the childs care, do you even tell anyone?

In this case, the team called on the hospitals ethics committee for help.

I think withholding information can feel paternalistic, [genetic counselor Monisha Samanta] Kisling says. We dont want to say, Hey, I dont think you can handle this information. Thats not necessarily our judgment call to make. Overall, its just a really, really tough decision.

Read full, original post: Youre Not the Father: A Moral Dilemma in Genetic Testing

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'Really tough decision': What should doctors do when genetic testing reveals that dad isn't the child's biological father? - Genetic Literacy Project

Since the 1970s, genetic screening has been standard practice during pregnancy. The goal of this kind of genetic testing has historically been to understand the likelihood an embryo carries a heritable disease, the classic example being the recessive genes for autosomal recessive disorders like cystic fibrosis, sickle cell anemia, and Tay Sachs, or tests that determine developmental disorders like Down Syndrome. This allows parents to make informed choices about ending pregnancies and planning ahead for potential issues. But as genetic technologies develop and gene editing becomes more widely practiced the possibilities are not limited to observation. As Dr. Robert Klitzsman writes inDesigning Babies: How Technology is Changing the Way We Create Children, genetic testing in the context of IVF is already giving us a glimpse of the ways in which the proliferation of new technologies could affect the genome of future children and future generations. And its not all good news.

Klitzman, Director ofColumbia Universitys Masters of Bioethics Program, suggests that progress has not been accompanied by adequate oversight or regulation. What are the limits of genetic screening, genetic testing, and gene editing technologies? The answer has as much to do with what risks are deemed acceptable and what risks are not. Designer babies are no longer the stuff of science fiction, but would-be parents arent exactly in a DNA Build-a-Bear. A transition is underway and Klitzman believes that parents need to understand the bleeding edge of whats possible to have the necessary context to understand the technologies they are using even in the process of basic screenings.

Fatherly spoke to Dr. Klitzman about the current state of genetic testing and the potential risks of emerging technologies.

Expecting parents likely understand one side of genetic testing, screening for heritable diseases. But new technologies and new discoveries mean that we can do more with genetic information and with genes themselves than ever before. So what are the limits of the current technologies?

A few years ago people thought wed find the cancer gene or the fat gene. But now we know that for most common diseases and most complex traits there are many genes involved. Sure there are certain genes that increase the risk of cancer from, say, 5 or 10 percent. But in genetic screening for diseases people should realize that, for a lot of diseases, the world is more complicated than just screening an embryo.

So its the old debate: nature or nurture? The answer is both. For a lot of traits, genetics explains the part but not all of the risk of the disease. So you may undergo genetic testing or you may screen embryos and the child may still get certain diseases. So its not always foolproof.

But its better than nothing.

Its important for parents to get tested to see if they have recessive conditions particularly if its in their family. If anyone has cystic fibrosis in their family, they should be tested to know. If theyre a carrier, they should see if their spouse is a carrier. If anyone has breast cancer in their family, they should be tested to see if they have that mutation. I think people with sickle cell disease should be tested for that. I think any woman who is over 35 should have the embryo tested for down syndrome and other chromosomal abnormalities. So I think there are certain diseases.

But, through evolution, most diseases for which there is a very predictive genetic test tend to be rare. If there was a terrible gene that was wiping out people, it wouldnt be getting passed on. The only genes that get passed on are not going to be from really terrible mutations because they would kill the people and by and large they wouldnt have any kid.

Its interesting that you point out the limits of genetic testing technologies because youre also a strong advocate for increased access.

I think insurance should pay for genetic testing. If a couple is concerned because their cousin has cystic fibrosis or someone in their family has sickle cell disease and wants to get tested, that should be covered. It may not be covered now so I think thats another set of policies that need to change. And part of that I think there needs to be more genetic counseling, which insurance also doesnt cover. The laws havent kept up with the technology. Our technologies advanced way ahead of our legal system and our duty to understand and figure out what to do with that of ethical legal and social questions involved.

A lot of the thornier issues you write about involve preimplantation genetic diagnosis, which is genetic testing post-conception and prior to pregnancy in the context of IVF. How are the decisions made by would-be parents undergoing PGD different than the decisions being made in the context of normal genetic testing?

Right now, we genetically screen embryos. When a couple undergoes IVF, lets say they create eight embryos. Doctors could say, These four are the girls, these four are the boys. Now, lets say a family has a history of breast cancer or the mother has the BRCA gene which carries breast cancer. The doctors could say, These three embryos have breast cancer gene these five dont. And the couple can choose the ones that dont.

Also, increasingly couples can say, Well, I just want a boy. And that creates a number of ethical challenges as opposed to letting Mother Nature do whatever it would do.

So theres potential in that specific context to take action in a way thats not possible in typical screenings. How much of that action is embryo selection versus actual gene manipulation?

We can take genes out. Theres a gene associated with Huntingtons disease or the BRCA breast cancer gene. We now have the technology to take them out.But these technologies are still in an experimental phase. And Im concerned that theyll soon be made fairly widely available even though there still may be risks involved and people may or may not fully appreciate those risks.

A few years ago, a doctor in China used CRISPR to edit the genes of twin girls. That opened brought a lot of criticism but also raised awareness of what can be done with this technology.

Thats right. So what Dr. He Jiankui did is that he worked with fathers who had HIV. There was a concern that the father could potentially pass HIV onto the child. And so he took the embryo and disabled the CCR5 gene that is involved in letting HIV get into a cell. The problem is that when you disable that gene, the risk of getting HIV goes down but the risk of getting influenza getting in goes up as do other risks.

DNA consists of three billion molecules. Each of us is a shelf of books in an office that has three billion letters in them. Well, if you go in and rip out some letters, you want to make sure you rip out the right ones. And so it looks like Dr. He didnt do it so precisely. So in fact what he said he took out wasnt exactly what he took out. In other words, if a child is born and missing part of the DNA, that part might be the next gene thats involved for, say, brain development or something like that.

You need to be very, very careful.

Presumably, the ethical questions get more complicated when gene editing becomes a more widely available procedure.

Until 60 years ago, we didnt even know what DNA did. We now have the ability to identify genes and were increasingly finding genes that are associated with not only various diseases but also human traits those associated with blonde hair and blue eyes, those associated with height and perfect pitch.

I think CRISPR probably will be used for people wanting or not wanting certain socially desirable or undesirable traits in their children.

A Gattaca situation.

Yes, exactly.

This interview has been condensed and edited for clarity.

The post Gene Editing Is Creating a New World of Designer Babies. Are We Ready For It? appeared first on Fatherly.

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Gene Editing Is Creating a New World of Designer Babies. Are We Ready? - Yahoo Lifestyle