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Archive for the ‘Genetic Testing’ Category

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

Illustration by cristina span/for the boston globe

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Trying to Find a Healthy Diet? Look to Your Genes – NBCNews.com

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Trying to Find a Healthy Diet? Look to Your Genes - NBCNews.com

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

By Jane Tiller and Paul Lacaze, Monash University

Posted August 25, 2017 17:11:23

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This would bring us in line with other countries.

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

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

Originally published in The Conversation

Topics:health-policy,regulation,insurance,government-and-politics,australia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Originally posted here:
Most Women with History of Ovarian or Breast Cancer Are Not Receiving Recommended Genetic Tests, Study Finds - Ovarian Cancer News Today

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2017-08-23T12:00:00-0400

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

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

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

Dr. Phil Smalley

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

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

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

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

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

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

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

Certainly yes2 ( 100 % )

Maybe0 ( 0 % )

Not really sure0 ( 0 % )

Likely not0 ( 0 % )

Certainly not0 ( 0 % )

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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/

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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

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

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)

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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ReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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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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