Archive for the ‘Genetic Testing’ Category

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

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

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

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

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

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

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

Illustration by Sam Woolley/Gizmodo Media

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Liverpool Women's Hospital to increase genetic testing of babies - Liverpool Echo

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

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

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

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

There are five types of genetic disorders:

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

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

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

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

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

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

Single Gene Epilepsy Syndromes

Other Single Gene Disorders that Can Manifest as Epilepsy

Other Inherited Metabolic Conditions that May Cause Seizures

Multifactorial Disorders

Mitochondrial Disorders

Chromosomal Disorders

Visit link:
Genetic Testing | Epilepsy Foundation

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

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

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

IT firm Novosco will introduce the computing system.

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

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

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

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

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

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

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

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

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

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Hospital to boost genetic testing for newborn babies - ITV News

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

Read the original:
Trying to Find a Healthy Diet? Look to Your Genes - NBCNews.com

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

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

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.

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

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

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

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

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

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

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

About Genesis Healthcare Co.

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

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

SOURCE Genesis Healthcare Co.

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

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.

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

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

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

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

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.

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

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)

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 all 4 news articles »

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

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.

Submit your Newswire tips here.

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

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

Read the rest here:
Ask Amy: DNA testing reveals family secret - Washington Post

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

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.

See more here:
What can genetic testing really tell you? - Popular Science

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