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Archive for the ‘Genetic Testing’ Category

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

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

Dr. Phil Smalley

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

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

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

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

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

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

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

Certainly yes2 ( 100 % )

Maybe0 ( 0 % )

Not really sure0 ( 0 % )

Likely not0 ( 0 % )

Certainly not0 ( 0 % )

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

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

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

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

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

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

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

Did you injure it?

She shook her head. It doesnt hurt at all.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

About Genesis Healthcare Co.

Co-Founder and President: Dr. Iri Sato BaranCorporate site: http://genesis-healthcare.jp/en/

View original content:http://www.prnewswire.com/news-releases/genesis-healthcare-pioneer-in-genetic-health-testing-announces-14-bil-yen-new-share-issue-to-rakuten-300506891.html

SOURCE Genesis Healthcare Co.

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Genesis Healthcare, Pioneer in Genetic Health Testing, Announces ... - Markets Insider

Audio: Many breast, ovarian cancer survivors should take this … – 89.3 KPCC

More than 1 million American women who have had breast or ovarian cancer are not getting a simple genetic test that will determine whether they carry a mutation that puts them at higher risk of a recurrence, according to a UCLA study published Friday.

Up to 10 percent of women who have, or have had, breast cancer, and up to 15 percent of those with a history of ovarian cancer, carry inheritable mutations that put them at higher risk of the cancer returning, says the study, which was published Friday in the Journal of Clinical Oncology.

The test to detect the mutations involves taking blood or saliva, but the study found that 70 percent of eligible breast cancer patients and 80 percent of patients with ovarian cancer have never taken the initial step of discussing testing with their health care provider.

"We want to figure out who are the women in this country that have those genetic changes," says lead author Dr. Christopher Childers, a resident physician at UCLA's David Geffen School of Medicine. That information, he says, can inform decisions about their treatment and surgery. It can also help family members detect cancer early and make lifestyle changes to try to prevent the disease.

National Cancer Center Network guidelines recommend genetic testing for women in these categories:

The study, based on surveys of more than 47,000 women nationwide, asked whether women were discussing the test or had taken it. It did not assess why patients aren't discussing or undergoing testing, but Childers says both providers and patients must play a role in closing the gap. He says all providers should ask women about their cancer history, inquire about prior genetic testing and be aware of the latest testing guidelines.

"Genetic testing is not just something that is under the care of an oncologist, it's something that all health care providers, from surgeons to primary care doctors to cardiologists, should be thinking about when we see patients with a history of cancer," he says.

Patients with a history of breast or ovarian cancer should see their doctors and inquire about genetic testing, even if they were diagnosed many years earlier, says Childers. The mutations detected by the test can affect the BRCA1 and BRCA2 genes. Tests for the mutations have been around since the mid-1990s, but science, testing guidelines and test availability have evolved since then.

"It's not something that you can just assume was taken care of when you had the diagnosis five or 10 years ago," he says. "This is something that is as important 10 years, 20 years, 30 years after your cancer, because it can not only affect your own health, but can also affect the health of your family members."

From her experience as a genetic counselor at Providence Health & Services Southern California, study co-author Kimberly Childers says some patients want to know the potential risks for themselves and their family so they can take steps to prevent future cancers, while others say ignorance is bliss.

Those patients typically say, "I'd rather just see what happens and not worry about it, and if something happens, I'll deal with it when it happens," says Childers, who is married to the study's lead author. She notes that testing might not be right for these people.

On the flip side, Kimberly Childers also sees women who have breast cancer in their history, but learn through testing that they didnt inherit the gene mutation.

"While our focus is on identifying those at risk who can benefit from early prevention and detection, it also can help give people peace of mind who might be living with a cancer cloud," she says.

The genetic test is covered by Medicare, Medi-Cal and most private insurance plans, says Kimberly Childers.

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Audio: Many breast, ovarian cancer survivors should take this ... - 89.3 KPCC

White Nationalists Are Flocking to Genetic Ancestry Tests–with … – Scientific American

It was a strange moment of triumph against racism: The gun-slinging white supremacist Craig Cobb, dressed up fordaytime TVin a dark suit and red tie, hearing that his DNA testing revealed his ancestry to be only 86 percent European, and 14 percent Sub-Saharan African. The studio audience whooped and laughed and cheered. And Cobbwho was, in 2013,chargedwith terrorizing people while trying to create an all-white enclave in North Dakotareacted like a sore loser in the schoolyard.

Wait a minute, wait a minute, hold on, just wait a minute, he said, trying to put on an all-knowing smile. This is called statistical noise.

Then, according to theSouthern Poverty Law Center, hetook to the white nationalist website Stormfront to dispute those results. Thats not uncommon: With the rise of spit-in-a-cup genetic testing, theres a trend of white nationalists using these services to prove their racial identity, and then using online forums to discuss the results.

But like Cobb, many are disappointed to find out that their ancestry is not as white as theyd hoped. In a new study, sociologists Aaron Panofsky and Joan Donovan examined years worth of posts on Stormfront to see how members dealt with the news.

Its striking, they say, that white nationalists would post these results online at all. After all, as Panofsky put it, they will basically say if you want to be a member of Stormfront you have to be 100 percent white European, not Jewish.

But instead of rejecting members who get contrary results, Donovan said, the conversations are overwhelmingly focused on helping the person to rethink the validity of the genetic test. And some of those critiqueswhile emerging from deep-seated racismare close to scientists own qualms about commercial genetic ancestry testing.

Panofsky and Donovan presented their findings at a sociology conference in Montreal on Monday. The timing of the talksome 48 hours after the violent white nationalist rally in Charlottesville, Va.was coincidental. But the analysis provides a useful, if frightening, window into how these extremist groups think about their genes.

Stormfront was launched in the mid-1990s byDon Black, a former grand wizard of the Ku Klux Klan. His skills in computer programming were directly related to his criminal activities: He learned them while in prison for trying to invade the Caribbean island nation of Dominica in 1981, and then worked as a web developer after he got out. That means this website dates back to the early years of the internet, forming a kind of deep archive of online hate.

To find relevant comments in the 12 million posts written by over 300,000 members, the authors enlisted a team at the University of California, Los Angeles, to search for terms like DNA test, haplotype, 23andMe, and National Geographic. Then the researchers combed through the posts they found, not to mention many others as background. Donovan, who has moved from UCLA to theData & Society Research Institute, estimated that she spent some four hours a day reading Stormfront in 2016. The team winnowed their results down to 70 discussion threads in which 153 users posted their genetic ancestry test results, with over 3,000 individual posts.

About a third of the people posting their results were pleased with what they found. Pretty damn pure blood, said a user with the username Sloth. But the majority didnt find themselves in that situation. Instead, the community often helped them reject the test, or argue with its results.

Some rejected the tests entirely, saying that an individuals knowledge about his or her own genealogy is better than whatever a genetic test can reveal. They will talk about the mirror test, said Panofsky, who is a sociologist of science at UCLAs Institute for Society and Genetics. They will say things like, If you see a Jew in the mirror looking back at you, thats a problem; if you dont, youre fine.' Others, he said, responded to unwanted genetic results by saying that those kinds of tests dont matter if you are truly committed to being a white nationalist. Yet otherstried to discredit the genetic tests as a Jewish conspiracy that is trying to confuse true white Americans about their ancestry, Panofsky said.

But some took a more scientific angle in their critiques, calling into doubt the method by which these companies determine ancestryspecifically how companies pick those people whose genetic material will be considered the reference for a particular geographical group.

And that criticism, though motivated by very different ideas, is one that some researchers have made as well, even as other scientists have used similar data to better understand how populations move and change.

There is a mainstream critical literature on genetic ancestry testsgeneticists and anthropologists and sociologists who have said precisely those things: that these tests give an illusion of certainty, but once you know how the sausage is made, you should be much more cautious about these results, said Panofsky.

Companies like Ancestry.com and 23andMe are meticulous in how they analyze your genetic material. As points of comparison, they use both preexisting datasets as well as some reference populations that they have recruited themselves. The protocol includes genetic material from thousands of individuals, and looks at thousands of genetic variations.

When a 23andMe research participant tells us that they have four grandparents all born in the same countryand the country isnt a colonial nation like the U.S., Canada, or Australiathat person becomes a candidate for inclusion in the reference data, explained Jhulianna Cintron, a product specialist at 23andMe. Then, she went on, the company excludes close relatives, as that could distort the data, and removes outliers whose genetic data dont seem to match with what they wrote on their survey.

But specialists both inside and outside these companies recognize that the geopolitical boundaries we use now are pretty new, and so consumers may be using imprecise categorieswhen thinking about their own genetic ancestry within the sweeping history of human migration. And users ancestry results can change depending on the dataset to which their genetic material is being compareda fact which some Stormfront users said they took advantage of, uploading their data to various sites to get a more white result.

J. Scott Roberts, an associate professor at the University of Michigan, who has studied consumer use of genetic tests and was not involved with the study, said the companies tend to be reliable at identifying genetic variants. Interpreting them in terms of health risk or ancestry, though, is another story. The science is often murky in those areas and gives ambiguous information, he said. They try to give specific percentages from this region, or x percent disease risk, and my sense is that that is an artificially precise estimate.

For the study authors, what was most interesting was to watch this online community negotiating its own boundaries, rethinking who counts as white. That involved plenty of contradictions.They saw people excluded for their genetic test results, often in very nasty (and unquotable) ways, but that tended to happen for newer members of the anonymous online community, Panofsky said, and not so much for longtime, trusted members. Others were told that they could remain part of white nationalist groups, in spite of the ancestry they revealed, as long as they didnt mate, or only had children with certain ethnic groups. Still others used these test results to put forth a twisted notion of diversity, one that allows them to say, No, were really diverse and we dont need non-white people to have a diverse society,' said Panofsky.

Thats a far cry from the message of reconciliation that genetic ancestry testing companies hope to promote.

Sweetheart, you have a little black in you, the talk show host Trisha Goddard told Craig Cobb on that day in 2013. But that didnt stop him from redoing the test with a different company, trying to alter or parse the data until it matched his racist worldview.

Republished with permission fromSTAT. This articleoriginally appearedon August 16, 2017

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White Nationalists Are Flocking to Genetic Ancestry Tests--with ... - Scientific American

Ancestry.com tells white nationalists DNA tests won’t back ‘twisted ideologies’ – New York Post

The majority of white nationalists who use genetic ancestry sites arent happy with the results, according to a new study.

Sociologists at UCLA and the Data and Society Research Institute examined 12 million posts on a white nationalist website, Stormfront, posted by more than 300,000 users. Within those, researchers found 70 discussion threads containing 153 users who posted their test results from sites like Ancestry.com and 23andMe, with 3,000 individual posts in all, STAT News reported.

One-third of those who posted the findings of their genetic ancestry testing were pleased, according to Aaron Panofsky, a sociologist of science at UCLAs Institute for Society and Genetics. Meanwhile, the majority who found that their ancestry wasnt 100 percent white European either rejected or disputed the findings. Some even claimed to know their own background better than any test could.

They will talk about the mirror test, Panofsky told STAT News. They will say things like, If you see a Jew in the mirror looking back at you, thats a problem; if you dont, youre fine.

Some other users who got results they hadnt expected claimed that they didnt matter since they were truly committed to being a white nationalist, while others claimed the genetic testing kits were part of a vast Jewish conspiracy thats trying to confuse true white Americans about their ancestry, Panofsky said.

Panofsky and Joan Donovan of the Data and Society Research Institute presented their findings during a sociology conference in Montreal on Monday, roughly 48 hours after the deadly white nationalist rally in Charlottesville, Va. The timing was incidental, but provides a useful, if frightening, window into how some extremists view their ancestry, according to STAT News.

Ancestry.com which announced its 5 millionth DNA test earlier this month said in a statement to The Post that the company was horrified by the tragic events in Charlottesville and had a message for those in search of ethnic purity.

We not only condemn the violence that occurred but we are deeply disturbed by the ideologies of the white supremacist groups who marched there, the statement read. To be clear, we are against any use of our product in an attempt to promote divisiveness or justify twisted ideologies. People looking to use our services to prove they are ethnically pure are going to be deeply disappointed. We encourage them to take their business elsewhere.

Representatives from 23andMe, meanwhile, said the company conducts ancestry testing that provides a percentage of a persons regional origin.

We do not report on race, senior director of research Joanna Mountain said in a statement to The Post. In part this is done by using an algorithm to compare large segments of their genome to 31 different reference populations both publicly available reference data as well as reference data that we have internal to 23andMe. From this, 23andMe is able to estimate percentages of a persons genome that come from these areas, for instance, sub-Saharan African, Iberian or European.

23andMe performs genotyping the process of identifying genetic variants within key parts an individuals genome rather than sequencing, which determines the exact order of the four bases in DNA.

When a 23andMe research participant tells us they have four grandparents all born in the same country and the country isnt a colonial nation like the US, Canada or Australia that person becomes a candidate for inclusion in the reference data, 23andMe product specialist Jhulianna Cintron told STAT News.

The company then excludes close relatives who could distort the findings and removes outliers whose genetic data doesnt correspond, she said.

An associate professor at the University of Michigan who has studied commercial genetic testing told STAT News that companies are typically reliable at identifying genetic variants. But interpreting the results as far as ancestry or possible looming health risks is less certain, he said.

The science is often murky in those areas and gives ambiguous information, J. Scott Roberts said. They try to give specific percentages from this region, or X percent disease risk, and my sense is that that is an artificially precise estimate.

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Ancestry.com tells white nationalists DNA tests won't back 'twisted ideologies' - New York Post

PGD | PGS | Genetic Testing

Genetic Testing

If you or your partner have experience with genetic disorders in your family or simply need the security that comes from utilizing the best resources available, it is important to consider the use of genetic testing during your treatment. Not only does this state-of-the-art technology make IVF safer, as we are reducing the risk of pregnancy loss, but it also reduces the chance (and cost) of multiple cycles since we may ensure transfer of only the healthiest embryos. Genetic tests are performed on embryos to ensure the health of the chromosomes. Normally, there are 24 chromosomes (22 autosomes and an X and a Y chromosome).

The availability of genetic testing also allows our center to highlight the benefits of our less is more philosophy, which focuses on single embryo transfers to reduce the chance of multiple pregnancies. Transferring multiple embryos and resulting multiple pregnancies/births are stressful on the uterine environment, significantly decreasing the chance of a healthy pregnancy and increasing the chance of premature births.

It is common for patients to ask about the difference between PGD and PGS. The difference is significant and yet subtle. The purpose of PGD is to diagnose abnormal embryos to ensure that they are not transferred back into your uterus and improve your chances of having a healthy baby. PGD can only be run if you know that you or your partner are carriers of a genetic disorder. A special probe will be created to test for the specific disorder(s) that a couple is known to have. PGS on the other hand will screen for and identify unknown chromosomal abnormalities. This is better for patients who have a history of miscarriages or failed IVF cycles due to unknown circumstances. Most of our patients undergo PGS or Preimplantation Genetic Screening, but be sure to ask which one is right for you.

Genetic testing is very safe for both you and your embryos. We are not making designer babies, so there are no ethical issues to worry about. Some couples are concerned that the procedure will affect their chances of pregnancy, or more importantly, the health of their embryo. Because the procedure is done so early in the developmental process, at a time when cells from the embryo can potentially be removed, our genetic testing does not cause any harm to the developing embryo. Genetic testing is a vital resource for many couples, especially those with known family histories of genetic defects.

PGD/PGS/NGS can offer genetic screeningfor numerous diseases and disorders classified as either chromosomal disorders, single gene defects, or sex-linked disorders. Specific chromosomes are tested for specific disorders, including (but not limited to):

*PLEASE ASK OUR STAFF WHICH TESTS ARE RECOMMENDED FOR YOU*

New Hope Fertility embryologists can also test for X-linked diseases, which only affect males, (e.g. Hemophilia A, Adrenoleukodystrophy, Hunters disease) by identifying the sex of embryos and transferring only female embryos. We also offer PGD for single gene defects such as Cystic Fibrosis (CF), the common deletion (^F508), Spinal Muscular Atrophy (SMA), and Myotonic Dystrophy (DM).

NHFC also performs aneuploidy screening and chromosome translocations to detect abnormalities that may cause spontaneous abortions in early pregnancy. We can perform PGD for all single gene defects where the specific mutation is identified and as long as we can develop a special genetic probe for the disease.

New Hope Fertility Center of New York City is among the top NYC fertility clinics brings together a team of world-class, best fertility specialists that are committed to bring you the best of tomorrows IVF treatment, today. Our NYC fertility center named the Top Clinic of 2017 and is on top of the Forbes list of fertility centers in US. Dr. Zhang has been named among New Yorks Top Doctors

(Click the links below for more infertility information)

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PGD | PGS | Genetic Testing

IARPA looks to hand-held genetic testing – FCW.com (blog)

IARPA looks to hand-held genetic testing

WHAT: The intelligence community's development arm announced an effort to accelerate the development of next-generation gene sequencing technology, with an eye to building mobile devices that can quickly identify diseases or human genetic signatures in the field or in the lab.

WHY: The new Rapid Detection Nucleic Acid Signatures (RaDNAS) request for information from the Intelligence Advanced Research Projects Activity asks industry for information about nanopore sequencing capabilities -- a quick, relatively low-cost, highly mobile method for testing and processing of samples -- that can potentially allow test results to be displayed in real time.

The nanopore process uses tiny membranes and tiny electrical charges to separate molecules and has been used to rapidly identify and monitor diseases like Ebola. The technique has also been used to identify environmental hazards and food safety issues as well as in human genome sequencing and other applications.

IARPA is particularly interested in the nanopore process because of its potential for use in hand-held devices in the field. Other next-generation sequencing technologies and techniques are not as portable, according to the contacting notice.

Responses to the RFI are due Sept. 22. Read the full solicitation here.

In July IARPA issued an RFI asking about genetic identification technology that could be used to detect human engineered changes to natural biological systems.

Posted by Mark Rockwell on Aug 14, 2017 at 6:40 AM

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IARPA looks to hand-held genetic testing - FCW.com (blog)

Ask Amy: DNA testing reveals family secret – The Denver Post

Dear Amy: About a year ago, I used one of those genetic testing services. The website shows other users who share genetics with you, and allows everyone to contact each other.

Recently, I got a message from another user (a woman in her 60s in another state), that showed we were a very close genetic match.

She emailed me, saying she was looking for information on her father, whom she had never met. She said her mother had a very brief relationship with aU.S.marine during the Korean War. It turned out he had probably used a fake name. They had no photos, and they were never able to track him down. Her mother later moved to theU.S.

The woman, Janet, asked if it was possible if my grandfather (who is now dead) was her father. She knew very little except for what her mother (also now dead) had told her, including specific identifying physical characteristics. My grandfather was a Korean War veteran and had the exact characteristics she described (including a distinctive tattoo).

My grandfather wouldve been married to my grandmother (who is still alive) when Janet was been conceived. An uncle of mine was born a year before Janet.

I always saw my grandfather as a good, caring family man. I have not told anyone about this. I do not want to tarnish his memory, upset my grandmother, or change how my family views him, when hes not around to defend himself.

Janet would like to meet my aunts and uncles, but I have told her I am not comfortable giving her their contact information. She has recently started pleading with me, and I truly feel awful for not giving it to her.

What do I do here?

Torn

Dear Torn: One (perhaps unforeseen) aspect of using genetic testing is the way the results can open up confounding human dilemmas concerning long-buried family secrets. Recently, I was at a gathering where several people had used a genetic matching site and all of them noted shocking, unanticipated results, including being matched with (half) siblings they hadnt known about. And yet all reported that this ultimately was a positive experience.

In your case, Janet has already received useful genetic information. She now (quite understandably) wants more. You should at least answer any questions youre able to answer.

If you arent willing to even ask your aunts and uncles if they would be open to contact with her, then she will have to find another conduit to them.

It would be best if your family was open to the idea that people are complicated, and dont always do the right thing but this is the fullness of the human experience, and ultimately this is something to explore and embrace, rather than deny.

Dear Amy: My husband and I recently became friends with another couple. As a group, we get along famously.

However, lately I do not feel that my friend likes me. She makes remarks about how I dont exercise my dog, how I dont treat my husband right, how I treat my son, how they cant take me anywhere, and the list goes on.

I try not to trigger these comments and shrug them off, as they account for only a few unpleasant moments during several good hours spent together.

I like many other things about this person, but I do not like how she makes me feel when we are together. How do I let her know, without hurting her feelings, and how do I phrase asking her to stop throwing darts my way? Or am I just being too sensitive?

Had Enough

Dear Had Enough: I dont think its a lot to ask for someone to refrain from trashing you so no, you are not being too sensitive.

Tell your friend, I usually enjoy our time together. But you seem to find a lot wrong with me. Honestly, I dont like to be criticized, but especially in front of our husbands. Whats up with that?

She may say, as many do, Hey, I call em like I see em. Then you can tell her, Well, thats a trait that I dont appreciate. Its hurtful, and so I wish you would stop.

Dear Amy: Priority Parent described policing children on the playground. Is this priority parenting or helicopter parenting? Im quite sick of this sort of over-involvement.

Normal Parent

Dear Parent: This particular parent had a special-needs child. He is doing his job to pay close attention to potential dangers on the playground.

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Ask Amy: DNA testing reveals family secret - The Denver Post

Color of money: Genetic testing company works on $80 million round of financing – San Francisco Business Times


San Francisco Business Times
Color of money: Genetic testing company works on $80 million round of financing
San Francisco Business Times
Laurene Powell Jobs' Emerson Collective is among a group of investors in an $80 million round that will help genetic testing company Color Genomics Inc. develop new tests and services. The Series C round, including venture capitalists Hemant Taneja of ...
High-profile investors, including Laurene Powell Jobs, just put $80 million into Color GenomicsCNBC

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Color of money: Genetic testing company works on $80 million round of financing - San Francisco Business Times

White supremacists don’t take their impure genetic testing results very well – A.V. Club

What with white supremacy suddenly, depressingly prominent in the news this week, theres been an uptick of interest in the psychology of the tiki torch-wielding members of the so-called alt-right. Where do they organize? (The deep web, at least for now.) What do they want? (The same shitty stuff Nazis and other white supremacists have always wanted.) And, perhaps most interestingly: How do they react when genetic testing tells them theyre not as racially pure as theyve always believed themselves to be?

Business Insider reports on a new study out of UCLA, coincidentally released just in time for this latest burst of national Nazi attention, on how members of the white supremacist forum Stormfront have reacted to their less-than ideal genetic testing results over the years. (A study that involved at least one of the researchers spending four hours a day reading Stormfront in 2016, which seems pretty close to our personal definitions of hell.) Riffing on a famous video of noted racist Craig Cobb being told on The Trisha Goddard Show that hes only 86 percent European, the study suggests that Cobbs reactiona mixture of outright denial, and questions about the validity of the testsis pretty much par for the course.

It also notes, though, that while newer comers to the movement are often attacked and ostracized for their results coming back anything less than pure, older members are often comforted by their long-time friends, who help them to think through the results. The mental gymnastics on display are gut-churningly fascinating, as their fellow racists offer up platitudes that basically tell their comrades that theyre as white and racist as they think they are, regardless of what the tests say. (Others, meanwhile, question the science behind the assessments, bringing themselves weirdly into line with various critics of spit-in-a-cup genetic testing.) The most bizarre, arguments, though, actually come around to something like a pro-diversity stance, or at least the bigoted shadow version of one:

Still others used these test results to put forth a twisted notion of diversity, one that allows them to say, no, were really diverse and we dont need non-white people to have a diverse society, the studys author wrote.

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White supremacists don't take their impure genetic testing results very well - A.V. Club

Ask Amy: DNA testing reveals family secret – Washington Post

Dear Amy: About a year ago, I used one of those genetic testing services. The website shows other users who share genetics with you, and allows everyone to contact one another.

Recently, I got a message from another user (a woman in her 60s in another state), that showed we were a very close genetic match.

She emailed me, saying she was looking for information on her father, whom she had never met. She said her mother had a very brief relationship with a U.S. marine during the Korean War. It turned out he had probably used a fake name. They had no photos, and they were never able to track him down. Her mother later moved to the United States.

The woman, Janet, asked if it was possible if my grandfather (who is now dead) was her father. She knew very little except for what her mother (also now dead) had told her, including specific identifying physical characteristics. My grandfather was a Korean War veteran and had the exact characteristics she described (including a distinctive tattoo).

My grandfather wouldve been married to my grandmother (who is still alive) when Janet was been conceived. An uncle of mine was born a year before Janet.

I always saw my grandfather as a good, caring family man. I have not told anyone about this. I do not want to tarnish his memory, upset my grandmother or change how my family views him, when hes not around to defend himself.

Janet would like to meet my aunts and uncles, but I have told her I am not comfortable giving her their contact information. She has recently started pleading with me, and I truly feel awful for not giving it to her.

What do I do here?

Torn

Torn: One (perhaps unforeseen) aspect of using genetic testing is the way the results can open up confounding human dilemmas concerning long-buried family secrets. Recently, I was at a gathering where several people had used a genetic matching site and all of them noted shocking, unanticipated results, including being matched with (half) siblings they hadnt known about. And yet all reported that this ultimately was a positive experience.

In your case, Janet has already received useful genetic information. She now (quite understandably) wants more. You should at least answer any questions youre able to answer.

If you arent willing to even ask your aunts and uncles if they would be open to contact with her, then she will have to find another conduit to them.

It would be best if your family was open to the idea that people are complicated and dont always do the right thing but this is the fullness of the human experience, and ultimately this is something to explore and embrace, rather than deny.

Dear Amy: My husband and I recently became friends with another couple. As a group, we get along famously.

However, lately I do not feel that my friend likes me. She makes remarks about how I dont exercise my dog, how I dont treat my husband right, how I treat my son, how they cant take me anywhere, and the list goes on.

I try not to trigger these comments and shrug them off, as they account for only a few unpleasant moments during several good hours spent together.

I like many other things about this person, but I do not like how she makes me feel when we are together. How do I let her know, without hurting her feelings, and how do I phrase asking her to stop throwing darts my way? Or am I just being too sensitive?

Had Enough

Had Enough: I dont think its a lot to ask for someone to refrain from trashing you so no, you are not being too sensitive.

Tell your friend, I usually enjoy our time together. But you seem to find a lot wrong with me. Honestly, I dont like to be criticized, but especially in front of our husbands. Whats up with that?

She may say, as many do, Hey, I call em like I see em. Then you can tell her, Well, thats a trait that I dont appreciate. Its hurtful, and so I wish you would stop.

Dear Amy: Priority Parent described policing children on the playground. Is this priority parenting or helicopter parenting? Im quite sick of this sort of over-involvement.

Normal Parent

Normal Parent: This particular parent had a special-needs child. He is doing his job to pay close attention to potential dangers on the playground.

2017 by Amy Dickinson distributed by Tribune Content Agency

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Ask Amy: DNA testing reveals family secret - Washington Post

Poll Recap: Genetic Disease Testing – TheHorse.com

Photo: Stephanie L. Church, Editor-in-Chief

Chances are youre probably heard about certain equine genetic disease acronyms like HYPP (hyperkalemic periodic paralysis), PSSM (polysaccharide storage myopathy), and SCIDS (severe combined immunodeficiency syndrome). Some breeds of horses are more susceptible to these genetic diseases. But how do you really know if your Quarter Horse has HYPP, or your Arabian mare has the recessive gene for SCIDS?

In last weeks online poll, we asked our readers if theyve ever had their horses tested for a genetic disease or disorder. More than 250 people responded and weve tallied the results!

Of the 270 respondents, only 74 people (27%) have had a horse tested for a genetic disorder or disease. The remaining 196 respondents (73%) have not.

Additionally more than 35 commented about their experiences with equine genetic testing:

Several people commented about what theyve tested their horse for:

A few others shared general comments:

Want to learn more about equine genetic diseases and testing? You can find additional information on breed-related genetic disorders such as hyperkalemic periodic paralysis (HYPP), severe combined immunodeficiency (SCID), and polysaccharide storage myopathy (PSSM); learn about genetic testing in horses, and hear about some of the latest research on equine inherited diseases and conditions at TheHorse.com.

This week, we want to know: Have you ever rehabilitated an injury in your horse? Vote now and tell us about your experiences at TheHorse.com/polls!

The results of ourweekly pollsare published in The Horse Health E-Newsletter, which offers news on diseases, veterinary research, health events, and in-depth articles on common equine health conditions and what you can do to recognize, avoid, or treat them.Sign up for our e-newsletterson our homepage and look for a new poll onTheHorse.com.

Jennifer Whittle, TheHorse.com Web Producer, is a lifelong horse owner who competes with her Appaloosas in Western performance events. She is a University of Kentucky graduate and holds a bachelors degree in Community Communications and Leadership Development, and master's degree in Career, Technical, and Leadership Education. She currently lives on a small farm in Lawrenceburg, Kentucky.

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Poll Recap: Genetic Disease Testing - TheHorse.com

What can genetic testing really tell you? – Popular Science

Once difficult and expensive even for the most technologically advanced labs, genetic testing is fast becoming a cheap and easy consumer product. With a little spit and 200 dollars, you can find out your risk for everything from cystic fibrosis to lactose intolerance.

But its important to remember that not all genetic tests are created equal. And even the best clinical genetic test, carried out in a medical lab under a doctor's supervision, isn't perfectgenes are important, but they don't seal your fate.

Genetic tests are diagnostic, so anyone who is curious about their health can get one done. But they're more informative if you think you might be at risk for a genetic disorder.

Heavy-duty genetic tests have been used as a clinical tool for almost half a centurylong before 23andMe and Ancestry.com began offering direct-to-consumer tests. Lets say that many women in your family have had breast cancer. You can get a genetic test to see if you may have inherited an abnormal version of the BRCA gene, known to increase your risk for breast cancer.

Heidi Rehm, associate professor of pathology at Harvard Medical School, is the director of the Laboratory for Molecular Medicine, where patients get tested for diseases that can be traced to specific genetic roots. She says it is most common for people to get tested when they either suspect or know that they have a genetic disease; it may have affected multiple people in their family or they could show symptoms of something widely known to be genetic, like sickle cell anemia. For these people, genetic tests can provide a much-needed explanation for an illness and help doctors determine the best course of treatment. Babies are often tested for genetic diseases, either while they are still fetuses or shortly after birth.

Others get genetic tests if they and their partner both have family histories of an inherited diseaseeven if they dont have the disease themselves. For example, cystic fibrosis is linked to one particular gene, but you have to inherit the abnormal version of the gene from both your parents to get the disease. If you only inherit one copy, you may never knowyou wont display any of the symptoms. But if you and your partner both carry one copy of the faulty gene, your child could still inherit two copies. Genetic tests can forewarn you of that possibility.

But Rehm says there has been a recent trend of healthy people getting tested to predict whether theyll get certain diseases. I do think there are settings where predictive genetic testing is incredibly important and useful, Rehm says; for example, knowing that youre at risk for breast cancer gives you the opportunity for early intervention (remember when Angelina Jolie got a double mastectomy upon finding out she had a mutated BRCA gene?)

But Rehm also points out that genetic tests may not be as straightforward as they seem. For example, some genes are thought to increase risk of getting a certain disease, but it might only happen if you have specific family history, or you might be able to reduce your risk with lifestyle changes. So remember that a genetic test isnt the final verdictthere are other factors at play too.

Not entirelyits scope is limited. For starters, not all diseases are caused by genes. Plenty of conditions stem from environmental and lifestyle factors; they may interact with your genes, but the external factors are the real trigger.

But even if a disease is caused solely by faulty instructions written in your genes, you wont necessarily be able to test for it. Thats because genetic tests are mainly used for diseases that are penetrant, a term that scientists use to describe a strong connection between having a certain gene (or multiple genes) and getting a disease.

Genetic tests are surprisingly simple on the surface. All thats required of you is a small sample of cells, like a blood sample or saliva (which doesnt have DNA itself, but picks up cheek cells during its journey out of your mouth). It get sent to a lab where sequencing machines match up small pieces of synthetic DNA with your DNA to figure out the overall sequence.

Once they have your sequence, geneticists can compare it with "normal" or disease-causing sequences. In the end, they might give you a yes or no answer, or sometimes youll get a probabilitya measure of how much your genes increase your risk of developing the disease. Then, its up to your doctor to figure out what these genes (in combination with your lifestyle, family history and other risk factors) mean for your health.

With penetrant diseases, theres a very, very high ability to explain the disease, Rehm says. For example, the breast cancer-related gene BRCA1 can give you a 60 percent chance of getting breast cancer (in Jolies case, with her family history, the risk was 87 percent.)

This makes genetic tests better at detecting so-called rare diseases, says Steven Schrodi, associate research scientist at the Marshfield Clinic Research Institutes Center for Human Genetics, but theyre less useful when it comes to more common diseases, like heart disease or diabetes. Genetics can increase your likelihood of getting these disease, but scientists still dont know quite how much. Part of the problem is that there may be dozens or hundreds of genes responsible for these diseases, Schrodi says.

We have an incomplete understanding of why people get diseases, Schrodi says. A large part of it hinges on how we define diseases. Perhaps physicians have inadvertently combined multiple diseases together into a single entity.

Consumer genetic teststhe ones where you send in samples from homesometimes claim to test for these more complex traits, but be careful: Their results might not be very medically relevant, Rehm says. If they tell you that your genes make you twice as likely to develop diabetes, for example, that's a marginal increase that doesn't significantly affect your risk, especially when you take into account lifestyle factors.

Genes do seem to play a role in determining lifespan. After all, some family reunions stretch from great-great-grandparents all the way down to infants. Scientists have studied centenarianspeople who lived to be 100 years oldand found that people with certain versions of genes involved in repairing DNA tend to live longer.

This makes sense because aging leaves its mark on your DNA. Environmental factors can damage DNA, and even the routine chore of replicating cells can introduce errors as the three billion units of your DNA are copied over and over. Long-lived individuals have different sequences that seem to make their cells better at keeping DNA in mint condition.

But figuring out your expiration date is more complex than just testing for a few genes, says Jan Vijg, professor of genetics at Albert Einstein College of Medicine. In theory, you could design a test that looks at specific genes that might measure your risk for developing Alzheimers Disease or other age-related diseases, or your risk for aging quickly. To some extent, yes: Biomarkers will tell you something about your chances of living a long life, Vijg says. Still, that will only work if you live a careful life. And that means no accidents, infections, or cancers.

Aging also affects the exposed ends of your DNA, called "telomeres." DNA is stored as chromosomes, those X-like structures that you may have seen in biology textbooks. The most vulnerable parts of the chromosome are the chromosomes tips, which get shorter as you age because they arent properly replicated. But while telomere length might let you compare your DNA now with your DNA from a decade ago, you cant compare your own telomeres with other peoples telomeres. Theres a lot of variation between individuals, Vijg says. Some of us are just old souls (on the genomic level, that is.)

The methylation test, which looks at how the presence of small chemical groups attached to your DNA changes as you age, might be a better bet. A study at UCLA showed that changes were slower in longer-lived people. But Vijg is hesitant: I would not put my hopes on that as a marker to predict when exactly youre going to die.

For now, just enjoy your life, because you cant predict death. And if you decide to unlock the secrets of your DNA with an at-home test, don't take those results for more than their worth.

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What can genetic testing really tell you? - Popular Science

Telemedicine OK for Genetic Testing and Counseling – MedPage Today

WASHINGTON -- Genetic counseling and testing delivered via telephone matched up with the traditional in-person consultation in long-term psychosocial outcomes for women at risk of hereditary breast and ovarian cancer in a randomized trial, a researcher said here.

"This is one of the first studies to show comparable outcomes," said Marc Schwartz, PhD, of Georgetown University's Lombardi Cancer Center, after his presentation at the American Psychological Association's annual convention. That's important not only for these at-risk women, but also because "as testing becomes more popular for other cancers, there's just not enough capacity to see (everyone) in person."

Schwartz's research team -- spanning Georgetown, Dana-Farber Cancer Institute, the University of Vermont and Mount Sinai -- sought to address this looming treatment gap by studying a "telegenetic counseling and testing intervention designed to enhance genetic testing access," with women's psychosocial outcomes evaluated at 2-week, 3-month, and 12-month intervals.

At the 12-month follow-up, women counseled and tested via telephone showed "clear evidence" of non-inferior outcomes, Schwartz said, on all five psychosocial outcomes measured (distress, quality of life, knowledge, decisional conflict, and satisfaction), compared to women receiving in-person attention.

Calling telephone counseling and testing "safe and effective" for this population, Schwartz encouraged providers to consider these telemedicine approaches. "Waiting lists for initial (in-person) appointments are often quite long," he said, averaging 2.3 months at Georgetown.

"A lot of studies have shown tele-delivery is non-inferior" in other areas of medicine, he noted.

In the multi-site, randomized, non-inferiority trial, Schwartz and colleagues enrolled 669 women ages 21-85 with at least a 10% risk for carrying BRCA1/2 mutations. Women newly diagnosed with metastatic cancer were excluded.

Women in the telemedicine arm were issued "content comparable to in-person genetic counseling," according to Schwartz's presentation; women meeting with counselors received "standard BRCA1/2 genetic counseling and result disclosure."

The research team in 2014 had reported results from the 2-week and 3-month follows-ups, as well as economic factors.

Schwartz noted (as was true in the 2014 data) that "telephone delivery is cost-saving compared to standard counseling," averaging $114 less per case.

Overall: "In a series of studies, we have shown that BRCA1/2 mutation testing rarely results in adverse psychosocial outcomes" and fosters risk management behaviors, the researchers wrote in the abstract. "Regardless of delivery mode," Schwartz concluded, "distress tends to decrease among non-carriers and remains relatively stable among carriers."

The study was funded by the National Cancer Institute, and Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research.

2017-08-09T12:30:00-0400

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Telemedicine OK for Genetic Testing and Counseling - MedPage Today

Court Denies Genetic Testing in Juan Gabriel Estate Case – Billboard

Celebrity deaths often spawn inheritance lawsuits. And after Juan Gabriels (real name Alberto Aguilera) sudden death last year, lawsuits and paternity and inheritance claims have followed.

At least one of those has encountered a legal roadblock after a Los Angeles Superior Court denied a motion seeking DNA paternity testing.

In the decision handed down Thursday(Aug. 10), judge Brenda J. Penny, Commissioner of the Los Angeles Superior Court, denied Joao Aguileras request for genetic testing.

Read more: Mexican Superstar Juan Gabriel Dies at 66

The decision comes in the wake of a petition filed by Joao Aguilera on July 13, 2017, requesting a court order authorizing the County Coroners office to release a portion of Juan Gabriels remains for DNA testing. The petition, filed by Joao Aguilera, states that he is Juan Gabriels son, and that the fact is noted on his birth certificate.

In turn, Ivan Aguilera, who is recognized as Juan Gabriels son and is the beneficiary of his estate, filed an opposing motion July 28.

At the time of his death, according to court documents, Juan Gabriel had a Last Will and Testament, dated June 4, 2014, in which Ivan Aguilera is named as the sole beneficiary.

Read more: Juan Gabriel Hologram to Debut at Tribute Concert in Mexico: 'What We've Put Together is Unbelievable'

In a statement provided to Billboard, Ivan Aguileras legal firmLoeb & Loebwrote: We are pleased that the court rejected and denied Joao Aguileras motion, recognizing it as plainly improper and beyond the jurisdiction of any court in the State of California. Ivan Aguilera will continue to do whatever is necessary to honor and give effect to his father Albertos clear wishes and instructions, including those contained in his fathers will.

A copy of the court decision was not available at press time.

Juan Gabriel died a year ago at 66 years of age whilst on a major U.S. tour.

At the time of his death, Juan Gabriel, already one of Latin musics biggest superstars, was arguably at the apex of his career, despite his age.

Read more: Juan Gabriel Sales & Streams Soar Following His Death

He ranked at No. 18 on Billboards 2015 Money Makers list (just below Ed Sheeran and just above Florida Georgia Line), largely thanks to $11.6 million in touring revenue in 2015. He scored the years highest-grossing Latin tour and had the top-selling Latin album, Los Duo, which has moved 131,000 units, according to Nielsen Music.

The week before his death, his latest album, Vestido de Etiqueta: Por Eduardo Magallanes, debuted at No. 1 on Billboards Top Latin Albums chart. In the fall, Telemundo will begin airing a TV series based on his life.

After his death, different claims have been made to his estate, including from Joao Aguilera and Luis Alberto Aguilera, who both claim to be his children.

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Court Denies Genetic Testing in Juan Gabriel Estate Case - Billboard

Growth Opportunities in the US Prenatal Genetic Testing Market, Forecast to 2021 – Markets Insider

NEW YORK, Aug. 10, 2017 /PRNewswire/ --Prenatal genetic tests, which are predominantly used to test disorders such as aneuploidies in chromosomes 21, 18, and 13, and carrier screens, are gaining momentum in the United States due to enhanced assay outcomes through non-invasive methodologies, increased popularity through social media channels, and the growing number of women choosing to undergo pregnancy at an advanced maternal age.

Read the full report: http://www.reportlinker.com/p05057845/Growth-Opportunities-in-the-US-Prenatal-Genetic-Testing-Market-Forecast-to.html

The growth in demand has led to a high level of merger and acquisition activity, apart from numerous collaborations, which in turn has bolstered the product portfolio of several companies in the women's healthcare segment. With this accelerated growth, companies are exploring new avenues to market their products, thereby strategically tying up with IVF clinics, physicians, and OBGYNs. New business models like direct to consumer (DTC) are seeing increased uptake due to ease of use and hassle-free processing. Partnerships with Big Data companies will be the next big leap in the prenatal genetic testing market, thereby providing interpretation of vast volumes of data to increase specificity and sensitivity.

Research Scope:

The key objectives of this growth opportunity study are to track the changes in the prenatal genetic testing market landscape in the United States from 2016 to 2021. The study aims to identify growth segments and disruptive companies for investment. Further, it provides an in-depth revenue and market share analysis of 4 key segments, namely, NIPT, carrier screening for cystic fibrosis, invasive tests, and miscarriage tests.

The study highlights industry challenges, growth drivers and restraints, competitive developments, mergers and acquisitions, and investment opportunities. It also discusses the impact of Protecting Access to Medicare Act (PAMA) and the LDT guidelines issued by the FDA, identifies transforming business models, and makes strategic recommendations to understand market dynamics. The study also covers key trends and growth opportunities, game-changing companies, disruptive technologies, and strategic recommendations.

Key questions this study will answer include:

- What are the long-term growth prospects in the market?

- What are the other areas of growth outside NIPT? What are the opportunities to explore in carrier screening and miscarriage screening?

- What are some of the innovative companies to action and to follow?

- How should you price your tests to remain competitive in the market?

- Who are the established market participants and what are their strategies to remain competent in this market?

Read the full report: http://www.reportlinker.com/p05057845/Growth-Opportunities-in-the-US-Prenatal-Genetic-Testing-Market-Forecast-to.html

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Growth Opportunities in the US Prenatal Genetic Testing Market, Forecast to 2021 - Markets Insider

Genetic testing back on radar for parents – Toronto Star

Dr. Ronald Cohn is the pediatrician-in-chief for Sick Kids Hospital, and he's been receiving calls, emails and visits over the last few months from parents who once denied having their child genetically tested for fear of discrimination.(Rick Madonik / Toronto Star file photo)

By Victoria GibsonStaff Reporter

Wed., Aug. 9, 2017

After a federal bill protecting patients from genetic discrimination passed in the spring, familiar faces began to appear at Dr. Ronald Cohns door.

Cohn is the pediatrician-in-chief for SickKids Hospital, and over the last few months, hes been fielding new conversations with parents of young patients, whove previously sat down with him to discuss genetic testing.

The tests could be recommended for any number of reasons, whether to find the most effective treatment for a known condition or to diagnose a mystery slate of symptoms their child was living through. But, prior to March this year, the results of that test werent legally protected from discrimination, discouraging some parents from giving their consent.

What if their child was later forced to disclose their genetic results to a potential employer, or to an insurance agency? Could they be faced with cripplingly expensive policies? Or denied insurance altogether?

Its paralyzing, it was paralyzing to me, Cohn said. Some of the parents just couldnt get themselves to do it.

But after the Genetic Non-Discrimination Act, or Bill S-201, passed in March ensuring no person can be required to undergo genetic testing or disclose previous results many of those parents are re-appearing at Cohns door.

Theyre asking about the tests, whether theyll really be protected, and whether they can finally begin. Theyre bringing their kids back to the hospital, and getting answers they were scared of before.

As you can imagine, the kind of conversations were having now have significantly changed for the better, Cohn said. Now we can tell parents, you dont have to be concerned about this anymore.

Though SickKids hasnt accumulated any hard data about genetic testing in the five months since the bill passed, Torontos University Health Network has been tracking its numbers for several years. Every year for the last five years, theyve documented a 10 to 20 per cent increase in genetic testing.

Asked about the change since the bill was voted in specifically, Dr. Runjan Chetty, acting medical director of their laboratory medicine program, said that theres been a large increase in genetic tests to determine whether a patient will respond to certain treatment.

Dr. Suzanne Kamel-Reid, chief of the networks three clinical genetics laboratories, believes that rise is part of a larger trend. These increases mirror the increase in genetic and genomic knowledge as well as the increased availability of targeted drugs, she said.

Every day, tests in her labs begin with the arrival of a genetic material sample blood, bone marrow or tissue. Samples often come from hospitals within the network, but not always. Some are shipped in from around the province.

Once the sample is brought into the lab, DNA or RNA is extracted and a hunt for specific biomarkers begins. The biomarkers theyre investigating for any given sample depend on the patients reason for referral or history.

Bill S-201 has the most direct impact on inherited disease testing within the UHN, Kamel-Reid said. When a patient is afflicted with certain symptoms, sometimes the puzzle can be solved by looking at family histories.

Clinical geneticists are the ones that do this. They put the story together, Kamel-Reid explained. They figure out what is most likely going on with the family, and what genes should be tested to solve the mystery.

The results of those targeted tests allow patients to screen early for diseases they may be of particular risk for, which Kamel-Reid says can decrease side effects as well as incidents of the same disease in other relatives.

An individual could alter their lifestyle to avoid developing a disease, or take the precaution of getting screened more regularly than the average patient.

Sometimes you cant even do anything about it, but getting an explanation at least allows you to look for the signs, she said. As Bill S-201 came through parliament, chatter bubbled up in the lab about its implications.

Isnt that a great thing? Everyone should be able to have the testing they require without being afraid, she said. Because knowledge is power.

However, the new law is still on shaky ground. The federal Liberal government has indicated its intent to refer the bill to the Supreme Court to test its constitutionality. Hours before the final reading in the House of Commons, Prime Minister Justin Trudeau called Bill S-201 unconstitutional, that it infringed the jurisdiction of provincial governments.

He recommended that MPs vote against it, but in a free vote, Liberal backbenchers defied Trudeau with a 222-60 vote in the spring. Justice Minister Jody Wilson-Raybould had also made significant attempts to rouse opposition for the bill.

When the bill passed, Cohn said he was hit with emotion. Though it may eventually be challenged in the Supreme Court, inside the halls of Sick Kids, its offering comfort and protection for patients hes spent years with.

Reverting back to how things were, to him, isnt an option. We are watching this closely to make sure that it wont happen.

The Toronto Star and thestar.com, each property of Toronto Star Newspapers Limited, One Yonge Street, 4th Floor, Toronto, ON, M5E1E6. You can unsubscribe at any time. Please contact us or see our privacy policy for more information.

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Genetic testing back on radar for parents - Toronto Star

Genetic home testing: why it’s not such a great guide to your ancestry or disease risk – The Conversation UK

Genetic variation is an unavoidable feature of life. As a consequence of this and unless you are an identical twin you are genetically unique. You have a distinctive combination of genetic variants, almost all of which are shared with your parents, although shuffled into new combinations. With few exceptions, all of your characteristics, such as hair colour, height, ear wax quality, and disease susceptibility, are influenced by your genetics.

As a consequence, increasing numbers of people want to learn more about their genetic inheritance, which can be driven by a desire to find out whether they are carriers of, or possibly sufferers from, serious genetic disease. Other people are interested in what a genetic test might be able to tell them about their ancestry. Some people are simply curious.

Direct-to-consumer genetic testing companies which provide genetic tests based on a saliva sample that you send in from home have proliferated in response to this demand in recent years. Big names include 23andMe, AncestryDNA and Orig3n.

But what can these tests actually tell you about disease risk? And how reliable are ancestry predictions derived from an analysis of your genetic makeup?

The key problem in understanding both disease risk and genetic ancestry when interpreting someones results is that our knowledge of both is mostly based on studying large populations. The person taking the test will want specific, personal predictions but extrapolating results from population level measures of genetic risk to that of the individual isnt straightforward.

For instance, our understanding of the genetic basis of a given human trait comes from making statistical associations between the trait and a specific genetic variant. For rare genetic diseases, such as Huntingtons Disease, the connection between the disease and the genetic variant that causes it is very strong, so disease risk can be predicted with some confidence. For more common diseases, or traits such as height and BMI, however, there are hundreds of genetic variants that make relatively small contributions to these. Predictions of individual risk in these cases then becomes extremely hard.

The difficulty in making personal disease risk predictions becomes more apparent when you discover that the most comprehensive direct-to-consumer genetic tests look for about 700,000 genetic variants. This sounds like a lot, but it is actually only a fraction of the genetic diversity that exists in each person. And without knowing the full complement of genetic variants, risk predictions for most diseases will be inaccurate. What this means is that at the level of an individual, our understanding of the genetic basis for most human traits is incomplete, complex and messy.

Ultimately, what most people will learn from such genetic tests will be of limited health care value; you are much better off putting the money you would spend on a genetic test towards a gym membership, or a pair of trainers something that will have a proven effect on health and well-being.

Our individual genetic diversity is obviously influenced by our ancestry, and some genetic testing companies will offer to connect you to famous people in the past, or to particular locations. However, here again we encounter the problem of inferring individual narratives from population-based information as what we know about human ancestry comes from studying the genetic histories of populations, not individuals.

And as your genome the complete set of your genes is a patchwork of your ancestors DNA, each segment will have a different pattern of ancestry. This is why scientists have called statements about your ancestry based on genetic testing genetic astrology. Put simply, what genetic testing says about your ancestry may seem personal and precise, but could be true of thousands, possibly millions, of other people.

For instance, if we assumed European ancestry then I wouldnt need to charge your credit card or ask for a cheek swab to tell you that Abd-ar-Rahman III, the founder of the Caliphate of Crdoba (and descendant of the Prophet Mohammed), is your ancestor. Recent studies suggest that every person living in Europe about 1,000 years ago, if they left descendants, is an ancestor of every European today.

This is consistent with an earlier global mathematical modelling approach, which made the more startling prediction that every individual alive several thousand years ago (2,000-5,000BC, depending on the parameters of the model), assuming they left descendants, was the ancestor of every living person today. Everyone. So, without doing a genetic test, I can tell you, whoever you are, that you are descended from the people who founded Mesopotamia, as well as the rice farmers living on the banks of the Yangtze river. And theyre my ancestors, too.

Ultimately, genetic home testing can be an entertaining way of engaging with your genome. However, if you are wanting to get a better perspective on your personal disease risk, these kits are no substitute for professional healthcare services. And they are unlikely to tell you anything profound about your ancestral connections to famous people or locations in history.

This article was amended on August 9 to replace the emperor Justinian I with Abd-ar-Rahman III.

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Genetic home testing: why it's not such a great guide to your ancestry or disease risk - The Conversation UK

Researchers call on province to fund genetic testing for cerebral … – Toronto Star

Julian Cappelli, 16, who has cerebral palsy, enjoys some time with his mother Donna in their Toronto home. A new study from Holland Bloorview and SickKids has found there's a stronger genetic link in cases of hemiplegic cerebral palsy, the most common form of CP, than previously thought.(Bernard Weil / Toronto Star) | Order this photo

By Ainslie CruickshankStaff Reporter

Tues., Aug. 8, 2017

Researchers say genetic testing should be standard practice when diagnosing cerebral palsy after a new study found that genetic variations could be a factor in hemiplegic cerebral palsy, the most common form of the motor disability.

Standardizing a genetic workup for children with cerebral palsy, though, would depend on government funding.

There should be genetic testing that happens as soon as possible; thats the take home message in this study, said Stephen Scherer, director of the Centre for Applied Genomics at SickKids and one of the authors of the study, which was done by researchers at Holland Bloorview Kids Rehabilitation Hospital and the Hospital for Sick Children.

For families, genetic testing could help explain why their child developed cerebral palsy. For researchers, it offers new directions for research aimed at preventing and treating the condition, which affects three out of every 1,000 children born in Canada each year.

The impact of this I think is going to be very, very significant, Scherer said.

Sitting in the kitchen of his east-end home, Julian Cappelli, 16, is wearing a red Toronto FC T-shirt. Soccers his favourite sport and TFC is his favourite team.

Julian has quadriplegic cerebral palsy, which affects all four of his limbs. His family received that diagnosis when he was one year old. Julian said if he had the chance to have genetic testing done, hed take it. Even 15 years later, he wants to know why he has a motor condition that, for him, means he wont get the chance to try for a professional soccer career.

His mom, Donna, doesnt spend much time anymore wondering why he has cerebral palsy. Were kind of just moving forward and dealing with what we have, she said.

But that doesnt mean shes not excited about the new research. She is.

She remembers what it was like 15 and 16 years ago, wanting answers.

It was so overwhelming and you do want to know: Why did this happen? Was it something that you did?

Its good to see that theyre still looking into the reasons why this is happening and trying to help prevent it and make these kids lives better, she said.

Cerebral palsy is the most common physical disability in children, said Dr. Darcy Fehlings, a senior clinician scientist at Holland Bloorview specializing in cerebral palsy research and another of the studys authors.

Although it is a permanent disability that affects childrens motor movements, it manifests itself differently in every child. In some cases, children may have difficulty using their hands or walking. In other cases, they may have trouble communicating or might need to use a wheelchair.

Though cerebral palsy is often thought to be caused when a baby doesnt get enough oxygen before, during or after birth, causing damage to their brain or other organs, by stroke or infection in a childs brain, researchers found a significant genetic link in hemiplegic cerebral palsy, which affects only one side of the body.

The study, published in the Genetics in Medicine journal and promoted by Nature.com, outlines the results of DNA analysis on 97 children with hemiplegic cerebral palsy and their parents compared with more than 10,000 population control samples.

The researchers found that structural variations to the DNA that affect the genes for brain development and function were factors in 20 per cent of hemiplegic cerebral palsy cases and probably the major cause in five per cent of cases.

We didnt even look for this before, Scherer said. In retrospect, we should have.

Diagnosing cerebral palsy can be difficult, especially in children, who arent fully developed. In about 10 per cent of cases, children diagnosed with cerebral palsy may actually have a different disorder, he said. A genetic workup can help confirm the diagnosis and make sure the best treatment plan is developed.

In a statement, a spokesperson for the Ministry of Health and Long-Term Care said the ministry recognizes the importance of genetic testing in providing patient care.

Generally, with new or emerging tests, the test would undergo evidence-based evaluation that would guide decisions whether or not the test is used as part of routine standard of care, and making the best use of public healthcare resources.

Genetic testing is already used to help diagnose and develop treatment for cystic fibrosis and muscular dystrophy. More recently, it is being used to help diagnose and develop treatment for autism spectrum disorder.

Theres way more data here than we had in our early autism studies, Scherer said.

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Researchers call on province to fund genetic testing for cerebral ... - Toronto Star

Study: Most Newborns with Epilepsy Benefit from Genetic Testing – Sleep Review

Because of genetic testing, Orion Maynards parents knew the cause of his epilepsy weeks after he was born. The results influenced his treatment, qualified him for immediate intervention services, and led to the discovery that future siblings had a 50% chance of being born with the same condition.

Most newborns with epilepsy like Orion would benefit from genetic testing because the majority of cases are linked to identifiable genetic causes, finds a study led by University of Michigan C.S. Mott Childrens Hospital.

In the study, among 29 babies with epilepsy not linked to congenital brain malformations, 83% had a genetic cause. Research published in Neurology analyzed data from the Neonatal Seizure Registry that includes enrollees from 7childrens hospitals, including Mott.

A parallel, multisite study in JAMA Pediatrics, for which Mott was a major contributor, found similar results for children under age 3.

The younger the epilepsy begins, the more likely we are to find a genetic cause that may help with treatment, says Renee Shellhaas, MD, a pediatric neurologist at Mott and the lead author of the Neurology work, in a release.

Parents and physicians always want to know why a specific child develops epilepsy. Genetic testing benefits our youngest epilepsy patients and their families because it can not only assist with their care and prognosis but also in connecting families with condition-specific support groups and specialists, access to research studies, and counseling about family planning.

Genetic testing involves a simple blood test but is not always approved by health insurance providers.

These findings reinforce that genetic tests are incredibly valuable for childhood epilepsy, yet we still struggle getting them covered because of the cost, Shellhaas says.

We need to work on a broader policy level to increase access to appropriate genetic testing for children with epilepsy. Finding the reason for a childs epilepsy provides comfort and closure for families, helps them to connect with other families, can allow for tailored treatment, and ends the diagnostic odyssey faced by so many of our patients. Genetic testing is a standard of care for children with global developmental delays; our research results suggest we should consider a similar standard for children with epilepsy.

For Orions parents, Lindsay and Robin, the test brought important answers after their baby boy began having back-to-back seizures at just a few days old.

Orion was referred to Mott where he was diagnosed with epilepsy. A genetic test easily found the source: a missing piece of one of his chromosomes (16p13.11). A few months later, both parents had the same test and learned Lindsay was a carrier.

The test also helped with immediate eligibility for Early on Michigan, which offers early intervention and services for families with children under 3 experiencing developmental delays, disabilities, or special needs. Now 3 years old, Orion has benefited from several of the programs resources, including speech, physical, and occupational therapy.

Without the testing, we may not have qualified for the program until he was closer to 1and a half or 2when speech and motor development delays were noticeable, Lindsay says. Orion has been getting services since he was 3months old.

Shellhaas findings come on the heels of a separate study she also led, which analyzed how clinicians treat epilepsy in children under three across 17 pediatric epilepsy centers in the United States. The work, published in Pediatric Neurology, found that even though there are 20 different antiseizure medications, the drug levetiracetam is most commonly prescribed.

She says this consistency in practice is surprising as there are currently no evidence-based guidelines on the preferred approach to treating early-life epilepsy.

Even though clinicians seem to have informally agreed on the best way to start treating early life epilepsy, that doesnt mean it is evidence-based treatment, she says. We dont have that much data on how a lot of medicines influence the developing brain. We are working hard to change that.

Factors in the preference toward levetiracetam could include that the medication has a generic form, doesnt have interactions with other drugs, can be taken as a liquid or be given through an IV. Still, more study on its efficacy is needed.

We have to keep working to find the best way to diagnose and tailor treatment as early as possible in a childs life, Shellhaas says. If you can improve the way a childs neurodevelopment begins early on, youve influenced his or her ability to grow, develop and participate in society. That not only benefits the child but the whole family.

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Study: Most Newborns with Epilepsy Benefit from Genetic Testing - Sleep Review

Genetic Testing Tells More Than Just Ancestry – Springfield Business Journal

Dynamic DNALaboratories

Street Address:

2144 E. Republic Rd. Suite B204

Springfield, MO 65804

Phone: 417-319-1047

Fax: 417-319-7142

WebAddress: http://www.dynamicdnalabs.com

Top Executives: Austin OReilly (Owner/Senior Scientist)

Dr. Christopher Gilbert (Medical Director)Year Founded: 2015

Number ofEmployees: 6

Product or Service:

Clinical and Direct-to-Consumer Genetic Testing

Consumer demand for genetic-makeup testing is growing, not only to give clues about the past but also to learn how to improve the future. The CDC has identified that genetic testing has the potential to help prevent common disease and improve the health of individuals and populations.Dynamic DNA Laboratories, owned by Austin OReilly, is a genetic testing facility in Springfield, MO, working with individuals and businesses locally, as well as across the U.S. and eight other countries.

The most well known use of DNA testing is for tracing ancestry and paternity.But the fast emerging use is to develop personalized diet and exercise plans, so individuals can achieve their optimum fitness level. This service is available to companies as part of their wellness plan in addition to individuals motivated to improve their health.

Dynamic DNA provides the following services:

DNA Fitness Testing

DNA Nutrition Testing

Personalized Medicine Reporting

DNA Ancestry Testing

Paternity Testing

DNA/Microscopic artwork

Biomedical research projects (upon request)

Company Partnerships

Dynamic DNA recently partnered with Prime Trucking and Trinity Healthcare to be a part of Primes corporate wellness program for their employees, offering Nutrition and Fitness Panels to their 7,000-plus staff members and truck drivers.

Local Testing

Most genetic testing services outsource their testing but Dynamic DNA conducts all of its testing in-house at the Springfield laboratory.

This ensures the integrity of results and affords a quicker turnaround time. Where most labs take months to deliver results, Dynamic DNA provides results in less than two weeks.

Low Cost Option

We believe that everyone should have the opportunity to participate in DNA testing, so our number one goal is to make advanced genetic testing accessible to everyone by keeping our price points at the lowest in the industry, says Austin OReilly, owner and senior scientist.

Easy-to-Understand Results

Some DNA results can also be a challenge to read, let alone understand. Dynamic DNA removes this hindrance by presenting results in a clean and concise manner, and providing clients direct access to the scientists, genetic consultants or doctors on staff, should they have any questions or concerns.

Whether someone is looking to learn more about their health and predispositions, how to improve their performance, what medications work best for them, or where their family came from, we are happy to help, says OReilly.

Dynamic DNA recently had a peer-reviewed article published in the Journal of Nutrition and Health on research conducted for a local product called Re:iimmune. The company will be featured on The Doctor Show on PBS in September.

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Genetic Testing Tells More Than Just Ancestry - Springfield Business Journal

You’re getting a DNA test start-up Clear Genetics is building chatbots to help you understand the results – CNBC

George Frey | AFP | Getty Images

A lab technician at Myriad Genetics in Salt Lake City, Utah.

Thousands of people are getting genetic tests, for everything from their cancer risk to their likelihood of passing on a disease to a child.

But many doctors aren't adequately trained to interpret these results, or tell patients how to act on them. And genetic counselors -- who do have that knowledge -- are in short supply. There are only about 4,000 genetic counselors in the country today. That's one for every 80,000 Americans. That means some patients have to wait months to get a consultation.

Start-up Clear Genetics, which launches this week after raising $2.5 million in financing, is trying to make genetic expertise more widely available.

The start-up has developed a conversational chatbot to guide a user through their results, collect information and review options for genetic testing, and answer questions about things like whether the test will be covered by insurance. If there's a need for additional support, the patient can then schedule a consultation with a human expert via video or in-person.

"We're finding that it's working really well with patients," said Moran Snir, Clear Genetics' CEO, who was previously a software engineer with the Israeli military.

Clear Genetics is working with several large health systems in the United States to test out a beta version of its product.

"I think this is a very good use for AI," said David Ledbetter, executive vice president and chief scientific officer at hospital network Geisinger Health System, in an interview with CNBC.

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You're getting a DNA test start-up Clear Genetics is building chatbots to help you understand the results - CNBC

WBIR: Genetic Testing Kits Help Reveal Family History – Tennessee Today

August 7, 2017

WBIR TV Channel 10 recently interviewed Bruce McKee, UT professor in the Department of Biochemistry and Cellular and Molecular Biology, for a story examining genetic testing.

WBIRs Marketing Director Kara McFarland knew from a very young age she was adopted. It was never a secret. But all these years later she still knows very little about her biological family. McFarland turned to science to get some answers by using the genetic testing kit 23andMe. Its one of many for sale online and can be taken at home. She collected a saliva sample, sent it off the in mail and a month lager the results were in her computer inbox.

McKee said this type of genetic testing is called microarray technology and is reliable and validated. He noted that thisinformation could be of value for people like Kara who dont know much about their family background. But he added, you need to be prepared for the information your genes hold.

Read the full story online.

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WBIR: Genetic Testing Kits Help Reveal Family History - Tennessee Today

‘The ultimate in preventative treatment’: Push for government to fund genetic testing – The Sydney Morning Herald

Sydney couple Quinta and Greg Turton were looking forward to the arrival of their second baby, a much wanted younger sibling to their son Finlay.

They were devastated to learn their daughter Poppy had cystic fibrosis, dying from the genetic condition only 26 days after her birth.

Finlay, now 10, was healthy and the couple from Chifley in Sydney's south had no idea they were carriers of the faulty gene and had a one in four chance of passing it on to their children.

"It was a heartbreaking, horrible time," Mrs Turton said.

The couple opted to have their embryos screened for cystic fibrosis using a procedure known as pre-implantation genetic diagnosis (PGD) and conceived a healthy baby Angus, now six.

Mrs Turton said the technology was a "huge relief" but also came at a high price as the procedure, which can add up to $6000 to an IVF cycle, is not funded by Medicare.

"The financial commitment was massive and added extra stress to what was already a very emotional time," she said.

On Friday, the federal government's leading medical advisor recommended public funding for PGD, which involves analysing embryos before implanting them into the mother.

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After a decade of lobbying from IVF groups and families, the Medical Services Advisory Committee has recommended the federal government fund the procedure that can screen for hundreds of genetic abnormalities, including cystic fibrosis, Huntington's disease and Fragile X syndrome.

Mark Bowman, medical director of fertility specialist Genea, which has lobbied for the funding, said couples who know they are carriers of gene mutations face difficult emotional and financial hurdles.

"Often these couples are already managing babies with a disability and it's not fair to ask them to play Russian roulette with a spontaneous pregnancy and then perhaps face cost and heartache," he said.

"Setting the emotional aspect aside, we believe there is a strong economic case for the funding of PGD.

"If you take a child with a serious illness such as cystic fibrosis, they are facing ongoing treatment and perhaps a lung transplant in the future. PGD is the ultimate in preventative treatment."

Ethicists have argued that PGD is a form of "reproductive discrimination"that undermines the equality of people who have that genetic condition.

Genea chief executive Tomas Stojanov has hailed the recommendation as an important step in making PGD more accessible .

"We are thrilled MSAC has listened and urge the minister of health to respond," he said. "We want to continue to work with government to deliver an outcome. We will continue to do whatever we can to correct this inequity of access."

Counties including Britain, New Zealand, France and the Netherlands all provide some public subsidy for the procedure.

A spokesman for Health Minister Greg Hunt said the government will consider the advice of MSAC.

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'The ultimate in preventative treatment': Push for government to fund genetic testing - The Sydney Morning Herald

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