A new bill is quietly making its way through Congress that could bring the US a little closer to a Gattaca-like future in which employers could discriminate against their employees based on their genes and risk of disease.

To understand how we might get to Gattaca, lets back up. Under Obamacare, employers are allowed to offer employees deep discounts on health insurance premiums if they participate in workplace wellness programs. The programs often involve medical questionnaires and health assessments which has meant employers can get access to some of their employees personal health data.

Employers embraced the wellness programs. Insurers love them. The Obamacare incentives helped grow the giant workplace wellness industry. And the workplace wellness provisions in the law were some of the only parts of the ACA that received enthusiastic bipartisan support.

Now this new bill, HR 1313 or the Preserving Employee Wellness Programs Act seeks to clarify exactly how much personal health data employers can ask their employees to disclose. And in doing so, the bill also opens the door to employers requesting information from personal genetics tests or family medical histories.

Unsurprisingly, HR 1313 has captured the medias imagination. Vanity Fair suggested the bill could make one sci-fi dystopia a reality. Fortune said workers might soon be forced into genetic tests. On NBCs Meet the Press yesterday, Health and Human Services Secretary Tom Price was asked about HR 1313 which is part of a set of bills that seek to replace pieces of Obamacare and said it sounded like there would be some significant concerns about it.

I reached out to two health law professors the University of Michigan Law Schools Nicholas Bagley and Washington and Lee University School of Laws Timothy Stoltzfus Jost for help parsing the legislation.

As it turns out, employee wellness programs were already very intrusive of employees privacy. It also turns out theyre a bit of a sham and dont work nearly as well as supporters might have hoped to make people healthier or bring down health care costs. But the new bill would allow employers to dig even deeper into participating employees personal health information. While employees wouldnt be forced to join the programs or hand over their genetic test results, theyd have to pay hefty penalties for opting out.

There are four main ways HR 1313 would allow workplaces to access more of their employees personal and family health histories, and potentially use that information to discriminate against their workers:

1) First, the bill would kill legal challenges over whether workplace wellness programs are actually voluntary.

Under Obamacare, people who joined employee wellness programs at work were sometimes asked to submit health assessments or questionnaires. Workers who participated were eligible for a 30 percent (or higher) discount on their health insurance premiums. Employees who didnt participate couldnt get that discount, and therefore paid more for their health insurance.

The health assessments or questionnaires might probe into peoples medical histories, and this created friction with laws such as the Americans With Disabilities Act (ADA). The ADA says employers cant ask their employees to undergo a medical history unless that request is made through a voluntary wellness program. And a 30 percent surcharge is a pretty large sum of money more than $5,400 for the average family plan in 2016 so opting out may not feel optional for many people.

To try and resolve this legal tension, the Equal Employment Opportunity Commission (EEOC), an independent agency involved with overseeing compliance of the AD, got involved in 2016. It determined that if the ACA allows this surcharge, then employers are in compliance with the ADA, meaning that its okay for employers to charge workers who dont opt in to the programs.

The legal ground for that ruling is shaky, according to Bagley, who blogged about the bill at the Incidental Economist. But the new bill would cement the EEOCs interpretation of this: Its also resolving in statute the tension between the ACA and ADA and Congress has never done that before. That means this provision of the ACA would no longer be subject to legal challenges in court, Bagley added.

And so under the new bill, if it passes, if an employer has a medial history questionnaire as part of a wellness program, a worker would need to choose between completing it and paying that surcharge.

2) Second, the bill would allow employers to ask about an employees family medical history or risk paying a surcharge.

Right now, under the Genetic Information Nondiscrimination Act (GINA), wellness programs cannot inquire about an employees family medical history. The reason for the prohibition is simple: If youre on a family plan, employers are helping subsidize all that costly medical care for your sick family members. If you might have a sicker-than-average family, your employer is not going to be too happy to keep you on, said Bagley.

Stoltzfus Jost explained: This keeps employers and insurers from discriminating against people with health problems or genetic predispositions. It also gives people the peace of mind of knowing their employer doesnt have that information.

The new bill would amend GINA and allow employers to start asking about family medical history for the first time. Those who refuse, again, would face that 30 percent surcharge.

So this also leaves employees in a tough spot. It means theyre now open to potential genetic discrimination by their employer or insurers. As Bagley wrote on his blog, Employers arent supposed to use that kind of information to discriminate against you. But theyll be sorely tempted: through your employer-sponsored coverage, theyre on the hook for your familys medical expenses.

3) Third, employers would be able to demand your personal genetic information unless you pay a surcharge.

Under GINA, employers only have the right to access anonymized aggregate data about their employees health thats collected as part of a wellness program. This was already controversial, since in workplaces with a small number of employers it might be easy for employers to tell which employees data they were looking at.

The new bill, once again, goes further: It says that if an employer runs a wellness program that complies with the ACA, then its okay to ask workers for their personal information. So this would mean employers could demand access to the results of genetic tests an employee might have undergone during pregnancy or to determine if shes susceptible to breast cancer, for example.

This, too, is not mandatory per se but if you refuse to give that information, you face that 30 percent surcharge. And again, theres that pesky discrimination problem. Employers aren't supposed to use sensitive information to discriminate, Bagley said, but the whole reason that statutes like the ADA and GINA keep that information from employers is because there's a risk that they may use it anyhow. In a worst-case scenario, for example, they could drop an employee who is at a high risk of a costly genetic disorder.

4) Fourth, the bill transfers more regulatory power from an independent committee to federal agencies

The EEOC is an independent agency involved with overseeing compliance of the ADA, and it also currently has regulatory authority over employee wellness programs.

The new bill would transfer regulatory power from the EEOC to agencies (HHS, Labor, and Treasury) headed by President Trumps Cabinet members.

This is a big shift of authority away from an independent agency that thinks a lot about discrimination to agencies that dont have the same mission and are more subject to the control of the president, said Bagley.

Wellness programs by their nature intruded on employee privacy. In the programs health assessments, they probed into how many hours workers slept, what food and alcohol they ate and drank, and how much they exercised. Thats part of the reason theyve been so controversial.

Many of the news stories on this bill suggest HR 1313 came out of thin air; it didnt. It simply builds on Obamacare provisions by clarifying exactly how much employers can peer into their employees health histories and genetic information and it empowers employers with even more oversight, leaving workers once again in the position of choosing between affordable health care and their privacy.

Employees in places with these wellness programs were already forced to make that choice; under HR 1313, theyll simply have even more to worry about, like whether they want their employer to see the results of a genetics test they had during a pregnancy, or to know that their spouse or mother had cancer or depression.

As Stoltzfus Jost of Lee University summed up, The bill expands or eliminates the employee protections that were pretty weak already.

This is worrisome for anyone concerned with genetic discrimination, genetic privacy, or disability rights, which is why groups like the American Society of Human Genetics have opposed the bill.

Meanwhile, theres actually no good evidence that these wellness programs actually do what theyre supposed to do improve health and bring down health care costs so employers fondness for the programs may be dissipating, Bagley added.

For now, HR 1313 has already been marked up by the House Education and the Workforce Committee, and its now up to House leadership to decide on when to vote on it. Hopefully lawmakers will pay attention to the privacy and discrimination issues and the lack of evidence for wellness programs as the bill moves through Congress.

Read this article:
A new bill would allow employers to see your genetic information unless you pay a fine - Vox

Asking whether or not we really have free choice is a metaphysical question, perhaps left to those in the movie The Matrix. But throughout our lives,the decisions we make areinfluencedas much bypersonal choices as they are by genetic wiringcreated by millennia ofadaptations.

Consider the simple act of eating. We may think our food consumption isdriven byspur-of-the-moment choices. But the reality is that our individual genetics play a major role in thepleasure we derive from eating. Our physiological response to food (anticipation, selection, consumption, satisfaction) is based in a complicated reward system in the brain involving the mesolimbic network, as well as neurotransmitters such as dopamine. There is a question that stems back to at least the ancient Greeks: Inone version, Hera asked Tiresias, who derived more pleasure from sex, men or women? (Spoiler: Apparently women do 9x more!) Of course its rhetoric, but similarly, we cant assume and shouldnt presume that one persons experience with eating behaviors is the sameas anothers. This could be at the root of why some people find dieting so miserable and difficult, while others find iteffortless.

Do you really consciously choose what you will do?

Why do we think its genes?

Its been established that a series of gene variants is associated with addiction, which is an aberration of the brains reward system, and that these gene variants are heritable (having an alcoholic or other drug addict in the family increases the likelihood that others would be found to have addictive behaviors). More research must be done, butits a good bet that the two (drug cravings and food cravings) are closely linked in the brain.

An interesting look at this issue from a different direction can be found in the workings of the drug Contrave (a combination of bupropion and naltrexone) approved in 2014 for treatment of obesity. Bupropion has shown effectiveness as an appetite suppressant, while naltrexone blocks the effects of opioid drugs removing the reward offered to addicts.

One of the things we learn is thatthere are similarities between drugs and eating at least in terms of the pleasurederived by users. Naltrexone(and the similar naloxone) work through a direct and interesting mechanism: They prevent or reversethe effects of opioids by blocking opioid receptors, thereby preventingthe drugs from having an active site to dock and cause physiological activation.

Many drug overdoses lead to death because of respiratory depression, sedation, and hypotension (low blood pressure). By halting these drug effects, doctors have successfully revivedopioid usersfrom unresponsive states. Naloxonealso can reverse the negative mental and mood effects ofcertain drugs.

In those people using it for weight loss (as a component of Contrave), the drug modifies the response to the pleasure and craving of food in much the same way that it stops drug cravings.The person never feels the high he or she would typically experience fromeating.

Establishing further connection between genetics, brain architecture and food cravings, Contrave has been suggested to work bystimulatingneurons in the hypothalamus to generate theappetite-suppressant effect, whileblocking feedback mechanisms in the brain.

Researchersof Contraves dual mechanism of actionalso suggest that itmight have effects on themesolimbic reward system, adding, that this may lead to further weight reduction by modulating reward values and goal-oriented behaviors.

So certainly which foods we find desirable is in part influenced by our genetics, as well as our life experiences. But how effortful we need to be in our vigilance to avoid or reduce certain trigger foods may have more to do with the neurobiological effects of addiction than we may like to think.

Ben Locwin, PhD, MBA, MS, is a contributor to the Genetic Literacy Project and is an author of a wide variety of scientific articles in books and magazines. He is an expert contact for the American Associationof Pharmaceutical Scientists(AAPS), a committee member of the American Statistical Association (ASA), and has been featured by the CDC, the Associated Press, The Wall Street Journal, Forbes, and other media outlets. Follow him at@BenLocwin

Continue reading here:
Overeating? As with drug use, genetics may drive our choices - Genetic Literacy Project

A vitriolic proxy battle for control of a New Jersey company that Seattle Genetics made a big deal with in February has now put their transaction on ice for at least a month.

Seattle Times business editor

A vitriolic proxy battle for control of a New Jersey company that Seattle Genetics made a big deal with in February has now put their transaction on ice for at least a month.

Seattle Genetics agreed last month to pay $250 million upfront to license a potential solid-tumor drug developed by Immunomedics, a small biotech company in Morris Plains, New Jersey. Future milestone and royalty payments could push the total to $2 billion, the companies said.

But a proxy challenge to the board members running Immunomedics has thrown a wrench into that plan: A Delaware judge Thursday issued a temporary restraining order preventing Seattle Genetics from closing the deal.

We can confirm that the Delaware Chancery court issued a temporary restraining order delaying the closing of the IMMU-132 licensing deal between Seattle Genetics and Immunomedics for 30 days, a spokeswoman for Seattle Genetics said in an email.

The judges ruling is not yet available, but a court document filed Thursday said the temporary restraining order was granted in part.

VenBio, the largest Immunomedics shareholder with 9.9 percent of the stock, seeks to oust four controlling board members amid claims the 35-year-old company is mismanaged by the founder, who is its chief scientific officer, and his wife, who is president and CEO.

The activist investor fund portrays Immunomedics Seattle Genetics deal as a Hail Mary attempt to maintain control and short-circuit an orderly bidding process that could have yielded a better deal.

VenBio says its slate of candidates for the board was endorsed by the three leading proxy advisory firms ISS, Glass Lewis and Egan Jones and asserts that before the March 3 shareholder meeting it was receiving a majority of stockholder votes.

Nearly a week after that meeting, Immunomedics has not announced the results.

A day before the shareholder meeting, in a separate federal court suit filed by Immunomedics seeking to invalidate VenBios proxy votes, a judge declined to grant the company a temporary restraining order. That suit claimed VenBio has engaged in baseless character assassinations and violated laws governing proxy contests.

Until the litigation in both courts is resolved, its unlikely Seattle Genetics can complete its deal and move forward with the planned Phase 3 clinical trials for the drug in metastatic triple-negative breast cancer.

Read this article:
Seattle Genetics' big deal held up as partner's shareholders do ... - The Seattle Times

Employers could impose hefty penalties on employees who decline to participate in genetic testing as part of workplace wellness programs if a bill approved by a U.S. House committee this week becomes law.

In general, employersdon't have that power under existing federal laws, which protect genetic privacy and nondiscrimination. But a bill passed Wednesday by theHouse Committee on Education and the Workforce would allow employers to get around thoseobstacles if the information is collected as part of a workplace wellness program.

Suchprograms which offer workers a variety ofcarrots and sticksto monitor and improve their health, such as lowering cholesterol have become increasingly popularwith companies.Some offer discounts on health insurance to employees who complete health-risk assessments. Others might charge people more for smoking.Under the Affordable Care Act, employers are allowed to discount health insurance premiums by up to 30 percent and in some cases 50 percent for employees who voluntarily participate in a wellness program.

[Obamacare revision clears two House committees as Trump, others tried to tamp down backlash]

The bill is under review by other House committees and still must be considered by the Senate. But it has already faced strong criticism from a broad array of groups, as well as House Democrats. In a letter sent to the committee earlier this week, nearly 70 organizations representing consumer, health and medical advocacy groups, including the American Academy of Pediatrics, AARP, March of Dimes and the National Women's Law Center said the legislation, if enacted, would undermine basic privacy provisions of the Americans With Disabilities Act and the 2008 Genetic Information Nondiscrimination Act(GINA).

Congress passed GINA to prohibit discrimination by health insurers and employers based on the information that people carry in their genes. There is an exception that allows for employees to provide that information as part of voluntary wellness programs. But the law states that employee participation must be entirely voluntary, with no incentives for providing the dataor penalties for not providing it.

But theHouse legislation would allow employers to impose penalties of up to 30 percent of the total cost of the employee's health insurance on those who choose to keep such information private.

[Rich Americans seem to have found a way to avoid paying a key Obamacare tax]

It's a terrible Hobson's choice between affordable health insurance and protecting one's genetic privacy, said Derek Scholes, director of science policy at the American Society of Human Genetics, which represents human genetics specialists. The organization sent aletter to the committee opposing the bill.

The average annual premium for employer-sponsored family health coverage in 2016 was $18,142, according to the Kaiser Family Foundation. Under the plan proposed in the bill, a wellness program could charge employees an extra $5,443 in annual premiums if they choose not to share their genetic and health information.

The bill, Preserving Employee Wellness Programs Act, HR 1313, was introduced by Rep. Virginia Foxx, (R-N.C.), who chairs the Committee on Education and the Workforce. A committee statement said the bill provides employers the legal certainty they need to offer employee wellness plans, helping to promote a healthy workforce and lower health care costs.

The bills supporters in the business community have argued that competing regulations in federal laws make it too difficult for companies to offer these wellness programs. In congressional testimony this month, the American Benefits Council, which represents major employers, said the burdensome rules jeopardize wellness programs that improve employee health, can increase productivity and reduce health care spending.

A House committee spokeswoman told CNBC that those opposed to the bill are spreading false informationin a desperate attempt to deny employees the choice to participate in a voluntary program that can reduce health insurance costs and encourage healthy lifestyle choices.

Read more:

Deadly fungal infection that doctors have been fearing now reported in U.S.

Obamacare repeal guts crucial public health spending, including prevention of disease outbreaks

These 12 superbugs pose the greatest threat to human health, WHO says

Go here to read the rest:
Employees who decline genetic testing could face penalties under proposed bill - Washington Post

It's been a rough 12 months for Myriad Genetics (NASDAQ:MYGN) and Opko Health (NASDAQ:OPK). Myriad lost nearly half of its market cap during the period, while Opko stock is down around 20%.

Could better days be ahead for these two stocks? And which is the better pick for long-term investors? Here's how Myriad Genetics and Opko Health stack up against each other.

Image source: Getty Images.

There are three primary arguments in favor of buying Myriad Genetics stock. The company is a leader in the U.S. hereditary cancer screening market and is poised to expand its lead. Myriad is quickly growing its non-hereditary cancer business. The company also has significant opportunities in international markets.

How does Myriad plan to grow its U.S. hereditary cancer business? The greatest potential lies in expanding testing beyond breast cancer patients. A key to achieving this objective is with Myriad's myRisk, a single comprehensive DNA test that screens for breast cancer, ovarian cancer, colon cancer, uterine cancer, melanoma, pancreatic cancer, prostate cancer, and gastric cancer.

In Myriad Genetics' fiscal year 2013, only 1% of total testing volume stemmed from non-hereditary cancer screening. The company expects to report that figure is roughly 67% for fiscal year 2017. One primary product making this growth possible is GeneSight, a genomic test used to help physicians prescribe the correct psychiatric medications for patients. Myriad picked up GeneSight with its acquisition last year of Assurex Health.

As for international growth, Myriad is looking over the short term to expand primarily in the Canadian and major European markets. Over the longer term, though, the company plans to grow significantly in Japan, China, and Brazil.

Myriad's management team thinks the company can grow revenue at an average annual rate of more than 10% with an operating margin of at least 30%. The stock is up so far in 2017, thanks to a string of good news for the company -- including positive coverage decisions for Myriad's EndoPredict breast cancer test by multiple Blue Cross Blue Shield plans.

There are two key things to look at with Opko Health: the company's current products and services and its pipeline prospects. Opko currently gets over 80% of its revenue from services provided by Bio-Reference Labs, which it acquired in 2015. Bio-Reference generates solid cash flow and helps Opko market its 4Kscore prostate cancer DNA test.

Opko also has two drugs on the market. Varubi, which is used to treat chemotherapy-induced nausea and vomiting (NINV), is licensed to Tesaro. Rayaldee won U.S. regulatory approval in June 2016 for thetreatment of secondary hyperparathyroidism (SHPT) in adults with stage 3 or 4 chronic kidney disease (CKD). Although it's still relatively early in the commercial launch of Rayaldee, the potential for the drug appears to be quite promising. CKD is the ninth leading cause of death, with most CKD patients dying from cardiovascular disease precipitated by SHPT. There aren't any great options for treating SHPT other than Rayaldee.

Opko has several pipeline candidates. The most eagerly anticipated product is human growth hormone hGH-CTP that Opko is developing in partnership withPfizer. Opko reported disappointing results from a late-stage study of hGH-CTP.However, the company saw some outliers in the clinical data that gave hope that the hormone could potentially still win regulatory approval. Opko and Pfizer are working to advance to a regulatory filing based on an additional statistical analysis of the data.

Unlike Myriad Genetics, Opko isn't turning a profit right now. The company reported a net loss in 2016 of $25 million. However, its bottom line has improved and should get a big boost if Rayaldee picks up steam.

Quite frankly, both of these stocks are risky. Myriad Genetics faces intense competition in the DNA screening business. It's also at the mercy of payers' reimbursement decisions. Opko Health could be derailed if its hGH-CTP doesn't win approval or if Rayaldee sales don't meet expectations.

Personally, my risk tolerance isn't enough for me to buy either of these stocks. However, I thinkOpko gets the nod as the better choice between the two. The basis of my decision was on the opportunity that Opko has if things go its way. Granted, that might not happen. But if the company enjoys some good luck, the stock could soar.

Keith Speights owns shares of Pfizer. The Motley Fool has no position in any of the stocks mentioned. The Motley Fool has a disclosure policy.

Read more from the original source:
Better Buy: Myriad Genetics, Inc. vs. Opko Health, Inc. - Motley Fool

The strain of bird flu that infected a chicken farm in Tennessee in recent days shares the same name as a form of the virus that has killed humans in China, but is genetically distinct from it, U.S. authorities said on Tuesday.

The U.S. Department of Agriculture identified the strain in Tennessee as H7N9, following a full genome sequencing of samples from the farm. It said all eight gene segments of the virus had North American wild bird lineage.

On Sunday, the USDA confirmed the farm in Tennessee was infected with highly pathogenic bird flu, making it the first case in a commercial U.S. operation in more than a year.

In China, at least 112 people have died from H7N9 bird flu this winter, Xinhua news agency said on Friday.

However, that virus has Eurasian lineage, U.S. flu experts said.

Even though the numbers and the letters are the same, if you look at the genetic fingerprint of that virus, it is different, said Dan Jernigan, director of the influenza division at the National Center for Immunization and Respiratory Diseases at U.S. Centers for Disease Control and Prevention.

Jernigan said the risk to humans from the virus found in Tennessee is low. Genome sequencing shows the H7N9 virus did not have genetic features present in the virus in China that make it easier for humans to become infected, he said.

The virus found in Tennessee likely mutated to become highly pathogenic from a less dangerous, low pathogenic form, he said.

Disease experts fear a deadly strain of bird flu could mutate into a form that could be passed easily between people and become a pandemic.

Multiple outbreaks of the virus have been reported in poultry farms and wild flocks across Europe, Africa and Asia in the past six months. Most involved strains that were low risks for human health, but the sheer number of different types, and their simultaneous presence in so many parts of the world, has increased the risk of viruses mixing and mutating - and possibly jumping to people, according to disease experts.

Chinas Center for Disease Control and Prevention has said the majority of people infected by H7N9 in China reported exposure to poultry, especially at live markets.

Identifying the viruses in Tennessee and China both as H7N9 is similar to having two cars from different states with the same license plate number, said Carol Cardona, avian flu expert at the University of Minnesota.

The strain in Tennessee is NOT the same as the China H7N9 virus that has impacted poultry and infected humans in Asia, the USDA emphasized in a statement.

While the subtype is the same as the China H7N9 lineage that emerged in 2013, this is a different virus and is genetically distinct from the China H7N9 lineage, the USDA added.

U.S. officials are working to determine how the Tennessee farm, which was a supplier to Tyson Foods Inc, became infected. All 73,500 birds there were killed by the disease or suffocated with foam to prevent its spread.

Tyson, the worlds biggest chicken company, is hopeful this is an isolated incident, spokesman Worth Sparkman said.

Authorities have not identified the name of the farm or the town in Lincoln County, Tennessee, where it is located.

(Editing by Matthew Lewis and Bernard Orr)

More:
Tennessee Bird Flu Shares Name, Not Genetics, Of Feared China Strain - Huffington Post

No one wants to talk about cancer. A disease that has taken the lives of so many, even the word itself has an ominous connotation. But as much as we dont want to talk about it, new genetic technology suggests that starting the conversation about your familys cancer history might be in everyones best interest.

In her new book, "A Cancer in the Family: Take Control of your Genetic Inheritance," Dr. Theodora Ross addresses how our familys medical history plays a role in our health. To shed some light on the genetics of cancer, as well as genetic counseling, Ross spoke with Take Care to explain the importance of knowing your family history. Ross, a cancer geneticist, is director of University of Texas Southwestern Medical Centers cancer genetics program.

First and foremost, Ross says that while you may feel theres nothing you can do about an impending cancer diagnosis, knowing is always better than not knowing. Ross herself was hesitant to find out about her own genetics, even though she's a cancer expert and has a family history of the disease, including a sister with breast cancer. But when she developed a melanoma in 2004, she decided it was time to talk to a geneticist and a genetic counselor.

Ross attributes her hesitation to truthiness, which occurs when we want something to be true. Often when it comes to health, we ignore or deny potential problems. We dont go to doctors when were healthy, we dont want to believe there could be a problem, and so we dont look.

But Ross says knowing the family history of a patient is an important step in prevention, and helps not only the patient, but researchers too. Genetic counselors can go to physicians and obtain medical records, which gives researchers more data to work with, and gives patients an accurate understanding of their family history.

According to Ross, the most common genetically inherited cancer syndrome is Lynch syndrome, which occurs when there is a mutation in mismatched repaired genes. This mutation will lead to a predisposition to colon, endometrial, ovarian, pancreatic, and other cancers. The kicker? Only 5 percent of people with this syndrome actually know they have it, and its common. About one in 300 have it, says Ross. And if they knew, they could carry out preventative measures such as frequent colonoscopies and check-ups.

Comprehensive genetic testing is becoming cheap enough, according to Ross, for people to seek out this information at a reasonable cost. Genetic counselors, she says, have an incredible ability to connect with their patients while providing them with the information they need to make the most of their genetic history. Talking about cancer in the family can be a scary conversation, but its crucial, says Ross, to aid in our efforts towards prevention.

Follow this link:
Genetics and cancer: why testing can aid prevention - WRVO Public Media

The meltwater stonefly has adapted to a very specific and extreme niche the cold, clear water that pours off of the melting ice and snow from the glaciers in Glacier National Park in Montana. This bug is on the leading edge of climate change because its frigid mountain habitat is rapidly disappearing. Since 1850, 85 percent of the ice in Glacier has disappeared, and all of it is forecast to vanish completely by 2020.

In a study published in 2016, researchers found the cold-loving insect in trouble. Their physiology requires really, really cold water, and they cant survive once the water gets above an average of 9 degrees Centigrade during August, said Joe Giersch, a biologist with the U.S. Geological Survey (USGS), who has studied this and a similar insect, the western glacier stonefly.

Meltwater stoneflies and western glacier stoneflies move upstream to find cold water as things warm, and because of steeper mountain topography, populations become separated. This has interrupted gene flow, causing some genetics to disappear. As genes dwindle, the species is losing genetic variation and likely adaptive capacity the genetics that give species the ability to evolve needed traits as habitat conditions change. Its a big part of why the meltwater stonefly (Lednia tumana) is being considered for listing as threatened under the federal Endangered Species Act.

And many of its fellow high-altitude insects are in trouble too. This stonefly, Giersch and his co-authors wrote, likely represents a guild of species facing similar threats in alpine headwaters worldwide.

There is a huge unknown when it comes to protecting the meltwater stonefly and other species. Biologists are missing a huge piece of the puzzle knowing which genetics will give species the evolutionary lift that allows them to adapt successfully to a warmer world. This hidden DNA and the possibly important traits it represents are known as cryptic diversity, and much of it is being lost, experts say, as the range of species contracts, fragments, and otherwise changes. Yet this DNA is vital because it contains information on different lineages and on species that are emerging, the cutting edge of evolution. Losing it will greatly complicate the task of assessing how climate change will affect biodiversity and what to protect.

Genetic diversity in foundational plant species alpine flowers, cottonwoods, or tall grass prairie drive hundreds if not thousands of other species.

What disappears before we know it could have far-reaching consequences. A long-term research project on the genetic variations in cottonwood trees, called the Cottonwood Ecology Group, found that the genotype of a tree affects the communities of some 700 insect species that depend on it, as well as chemical emissions, microbes, bacteria, lichens, beavers, and birds that feed on the insects. Should important genotypes disappear, whole ecological communities could change in unpredictable ways. Genetic diversity in foundational plant species alpine flowers, cottonwoods, or tall grass prairie drive hundreds if not thousands of other species, said Thomas Whitham who heads the project at Northern Arizona University. Thats why climate change is an evolutionary event.

Often where the climate is changing fastest is where species are affected most. The bull trout, a threatened species that depends on very cold water in the Pacific Northwest, is also being impacted by warming. What we found is that genetic diversity is lowest in those locations that are going to experience the greatest climate change and the most stressful environmental conditions, said Ryan Kovach, a USGS fisheries biologist in Glacier National Park who has published papers on the subject of bull trout and climate. In other words they dont have genetic diversity where they are most likely to need it. Thats because there are fewer fish in these habitats because of already stressful conditions.

These kinds of genetic studies are a race against climate warming that is happening far faster than predicted. Although genetic diversity is literally the fundamental building block for all life, it is almost completely ignored in the context of climate change, said Kovach.

Carsten Nowak, a conservation biologist at the Senckenberg Research Institute and Natural History Museum in Gelnhausen, Germany, has also studied the genetics of climate change response in alpine insects, as well as in wolves and other species.

In 2011 Nowak and his colleagues conducted research in high-country Europe that looked at seven species of caddis fly and one species each of mayfly and stonefly, which like the stoneflies in Glacier National Park are cold-loving bugs. The scientists examined the species genetics and divided them into a finer scale, populations within the species that are genetically distinct from each other, something known as Evolutionary Significant Units (ESUs).

If the climate scenario doesnt change, according to their work, 79 percent of the ESUs will go extinct by 2080, decimating hidden genetic diversity. If greenhouse gas emissions are reduced by the amount needed to cap global warming at 2 degrees Celsius, as the Intergovernmental Panel on Climate Change has urged, then 59 percent of the ESUs are projected to disappear.

Nowaks study predicted that the loss of genetic diversity in Europe would be most marked in the Mediterranean region of southern Europe, which is also the area of the continent with the greatest genetic diversity. Even if populations disappear, no one knows what the loss represents. We need to know if there are ten populations and nine disappear does that matter? Nowak said.

Portuguese researchers forecasted in a paper published in February of 2016 that many lineages of amphibians and reptiles on the Iberian peninsula, which is expected to be hardest hit by warmer and drier weather, could disappear or contract within the next half century, causing a loss of cryptic diversity with implications to evolutionary processes.

These losses are important because a species, for example, that is exposed to a new disease, might not be able to evolve resistance to it because the genetics that govern immune response are gone. Or the genes that allow a fish or stonefly to regulate its temperature in warmer water might disappear.

The good news is that there has been a revolution in the ability to sequence DNA its now much faster and far cheaper than ever. The goal of many conservation scientists is to sequence the genomes of a species and then understand which section is responsible for adaptation, including such traits as migratory abilities, dispersal, and the ability to adapt to warmer temperature. Once thats done, it allows managers to allocate scarce resources to protect the populations most essential for adapting to changing conditions.

Can we use the Indian tiger to repopulate Siberia?

Nowak cited the example of the Siberian tiger, whose population has dwindled to a few hundred. Can we use the Indian tiger to repopulate Siberia? he asked rhetorically. If you have a lot of Evolutionary Significant Units and know what they represent, you might want some that are better at cold adaptation or fish catching, to repopulate Siberia. You cant just protect the species, you have to protect the populations, the small units of a species that might have the genes necessary for adaptation. Knowing what they represent is the hard part.

As ecologically important species come on line with their adaptation capacity mapped, it will give managers a powerful tool to triage species to protect the adaptation genetics. They might even affect gene rescues by focusing on the populations with the most vital genes. One of the options we have for the stonefly is translocation moving one population to a different location, said Giersch. Thats after we investigate the hidden adaptations within the DNA to figure out which ones have the ability to adapt to warmer temperatures. Thats a ways down the road.

Two species of trees have recently had their climate genes mapped and adaptive capacity located. A study published in September of 2016 found that two distantly related trees interior spruce and lodgepole pine use the same set of 47 genes to deal with temperature, precipitation and other climate variables. Knowing about these adaptations trees is important because they migrate slowly, over generations, and assisted migration efforts with trees are already underway. We have to understand climate adaptation in other conifers so we can address trees that are becoming mismatched to their environment, said Sally Aitken, a professor of forest and conservation science at the University of British Columbia. That will inform better management strategies, she said, and enable us to plant trees that are more likely to thrive and adapt more quickly to climate change.

By: C. Thompson, E. David, M. Freestone, and C.T. Robinson

Western North American Naturalist, Vol. 73, No. 2 (July 2013), pp. 137-147

Monte L. Bean Life Science Museum, Brigham Young University

Comments are closed.

View original post here:
How Global Warming Is Threatening Genetic Diversity | JSTOR Daily - JSTOR Daily

pixabay

By Wayne KondroMar. 10, 2017 , 6:00 PM

A vote in Canadas Parliament to approve a genetic privacy bill is creating a self-inflicted political headache for Prime Minister Justin Trudeaus Liberal governmentand could result in a relatively rare and unusual court case.

The Genetic Non-Discrimination Act, originally introduced in 2013 by now-retired Liberal Senator James Cowan, is aimed at preventing the use of information generated by genetic tests to deny health insurance, employment, and housing, or to influence child custody and adoption decisions. It calls for fines of up to $740,000 and prison terms of up to 5 years for anyone who requires any Canadian to undergo a genetic test, or to disclose test results, in order to obtain insurance or enter into legal or business relationships. The bill bars discrimination on the grounds of genetics, and the sharing of genetic test results without written consent (with exemptions for researchers and doctors).

Supporters said the law is needed to encourage Canadians to make greater use of genetic testing. Currently, they claimed, many Canadians refuse genetic tests in the course of care or clinical trials because they fear insurers or others could use the results against them. But opponents of the bill, including health and life insurers, argued a ban would increase treatment and insurance costs. Instead, insurers support a voluntary code regulating the use of genetic tests in underwriting life insurance policies; it would allow insurers to require tests only for policies worth more than $185,500. Trudeaus Liberal Party cabinet also formally opposed the measure, with Justice Minister Jody Wilson-Raybould arguing that the bill is unconstitutional because it intrudes on powers given to Canadas 13 provincial and territorial governmentsto regulate insurance.

Those arguments, however, failed to sway lawmakers. On 9 March, members of Parliament voted 22260 to approve the measure. More than 100 Liberal members voted for the bill, taking advantage of a so-called free vote, which allows members to vote their conscience rather follow the party line.

The vote was applauded by Bev Heim-Myers, chair of the Canadian Coalition for Genetic Fairness in Kitchener, which represents 18 disease-based organizations. Finally, the voices of Canadians, and the voices of science and medicine, were heard, she says.

The result has prompted Trudeaus government to consider extraordinary measures to block the legislation. Normally, the bill would become law once it is approved by Canadas governor-general (and in this case, after Canadas Senate approves a minor amendment requested by the House of Commons). The governor-general, who represents the queen of England, is a holdover from Canadas past as a British colony, and typically rubber stamps legislation passed by Parliament.

To delay and potentially kill the legislation, Trudeaus government is considering not sending the bill to the governor-general (a tactic that doesnt appear to have been used since the 1920s), and instead asking Canadas Supreme Court to rule on the bills constitutionality. That process could take up to 2 years.

Cowan, the bills original sponsor, says he cant fathom the rationale behind the governments stance. Is it really up to the government of Canada to defend provincial jurisdiction, or the insurance industry? he asks.

Prominent legal scholars are skeptical of the governments claim that the law is unconstitutional. Canadas Supreme Court has previously held that federal criminal law can apply to regulating food, drugs, guns, and other areas in which the goal is to mitigate so-called social evils, they note. And the claim that the bill infringes on provincial power to regulate insurance may not hold up, because the law applies equally to all commercial sectors.

Please note that, in an effort to combat spam, comments with hyperlinks will not be published.

Go here to read the rest:
Canada's new genetic privacy law is causing huge headaches for Justin Trudeau - Science Magazine

March 10, 2017 at 1:31 PM

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world. A team led by the professors Daniel Grinberg and Susana Balcells, from the Group on Human Molecular Genetics of the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) has now identified a gene that causes the Opitz C syndrome in the only patient in Catalonia diagnosed with this severe congenital disease. This new scientific advance is a first step to discover the genetic bases of this syndrome which, so far, does not offer treatment possibilities, prenatal diagnosis or genetic counseling.

The new study, published in the journal Scientific Reports, has the participation of several researchers at the CRG, including members of the Genomic and Epigenomic Variation in Disease laboratory, the genomics unit, and the bioinformatics unit. It also had the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and experts at the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR).

Opitz C syndrome: rare but not invisible

The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.

In the new study, the experts described for the first time, the existence of a novo mutation -p.Q638*- located in the gene MAGEL2 of the only diagnosed person with Opitz C syndrome in Catalonia. Identifying this mutation, found in the Prader-Willi Region on chromosome 15, widens the knowledge horizons on genetics and the possibilities for a diagnosis on these rare diseases.

"The p.Q638* mutation, identified in the gene MAGEL2, coincides with the one described concurrently and independently in a patient with Schaaf-Yang syndrome, a new minoritary disease affecting fifty people in the world. The first cases were described on a scientific bibliography in 2013 by the team of Professor Christian Schaaf, from the Baylor College of Medicine, Houston", says Professor Daniel Grinberg, member of the Institute of Biomedicine of the University of Barcelona (IBUB), the Research Institute of Sant Joan de Du (IRSJD) and CIBERER.

"Consequently, from a genetic diagnosis perspective -says DanieL Grinberg- this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients with Schaaf-Yang syndrome"

Genetics will define the limits of rare diseases

Identifying the genes that cause a disease is a breakpoint to understand the pathology and set new future therapeutic approaches that improve the quality of life of the patients. In the new study, the teams of the UB and the CRG applied techniques of DNA massive sequencing (exome and genome), a powerful methodology that allows identifying altered genes in each patient.

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective" concluded the researcher.

Susana Balcells, tenured lecturer at the UB and also member of IBUB and CIBERER, added "what we can see from a clinical symptomatology view in these kinds of diseases which are so hard to study and diagnose, is far from the initial molecular defect that generates the disease".

"All these clinical doubts -continued Balcells- will be solved with genetics, which will define the limits of these rare diseases and will ease the scientific consensus on the diagnosis and genetic causes that create them".

Crowdfunding: when society supports scientific research

The members of the Group of Human Molecular Genetics of the University of Barcelona and the CRG are currently in contact with the team of Professor Schaaf and three families of patients diagnosed with Schaaf-Yang syndrome in the Iberian Peninsula.

In December 2026, the first author of the study published in Scientific Reports, Roser Urreitzi, researcher of CIBERER and lecturer at the UB, coordinated the meeting between the experts and the affected families. The meeting took place at the Faculty of Biology of the University of Barcelona and was a new encouragement for the collaboration of researchers and affected families in future projects with the participation of the UB, CRG and CIBERER Biobank, in Valencia. This cooperation has also allowed the three patients to be examined by the same clinical expert: the pediatrician Dr Anna M. Cueto, assistant doctor and clinical geneticist at the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron in Barcelona. This is clearly a new progress in the field of ultra-minority diseases.

Follow this link:
Researchers discover genetic bases of Opitz C syndrome - News-Medical.net