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Twin study reveals strong genetic influences on how infants visually explore social world

Using eye-tracking technology, researchers at Washington University School of Medicine in St. Louis and Emory University School of Medicine in Atlanta have found compelling evidence that genetics plays a major role in how children look at the world and whether they have a preference for gazing at peoples eyes and faces or at objects. The discovery adds new detail to understanding the causes of autism spectrum disorder. Studying twins, the researchers found that where babies focus their eyes is under stringent genetic control.

New research has uncovered compelling evidence that genetics plays a major role in how children look at the world and whether they have a preference for gazing at peoples eyes and faces or at objects.

The discovery by researchers at Washington University School of Medicine in St. Louis and Emory University School of Medicine in Atlanta adds new detail to understanding the causes of autism spectrum disorder. The results show that the moment-to-moment movements of childrens eyes as they seek visual information about their environment are abnormal in autism and under stringent genetic control in all children.

The study is published online July 12 in the journal Nature.

Now that we know that social visual orientation is heavily influenced by genetic factors, we have a new way to trace the direct effects of genetic factors on early social development, and to design interventions to ensure that children at risk for autism acquire the social environmental inputs they need to grow and develop normally, said lead author John N. Constantino, MD, the Blanche F. Ittleson Professor of Psychiatry and Pediatrics at Washington University. These new findings demonstrate a specific mechanism by which genes can modify a childs life experience. Two children in the same room, for example, can have completely different social experiences if one carries an inherited tendency to focus on objects while the other looks at faces, and these differences can play out repeatedly as the brain develops early in childhood.

The researchers studied 338 toddlers ages 18 to 24 months using eye-tracking technology, developed at Emory, allowing them to trace young childrens visual orientation to faces, eyes or objects as the children watched videos featuring people talking and interacting.

The children, who were part of the Missouri Family Registry, a database of twins that is maintained at Washington University School of Medicine, included 41 pairs of identical twins such twins share 100 percent of their DNA and 42 sets of fraternal twins who share only about 50 percent of their DNA. In addition, the researchers studied 84 unrelated children and 88 children diagnosed with autism spectrum disorder.

Constantino, with fellow investigators Warren R. Jones, PhD, and Ami Klin, PhD, of Emory University School of Medicine, evaluated the eye-tracking data. Each twin was tested independently, at different times, without the other twin present.

How much one identical twin looked at another persons eyes or face was almost perfectly matched by his or her co-twin. But in fraternal twins, eye movements in one twin accounted for less than 10 percent of the variation in the eye movements of his or her co-twin. Identical twins also were more likely to move their eyes at the same moments in time, in the same directions, toward the same locations and the same content, mirroring one anothers behavior to within as little as 17 milliseconds. Taken together, the data indicate a strong influence of genetics on visual behavior.

The moment-to-moment match in the timing and direction of gaze shifts for identical twins was stunning and inferred a very precise level of genetic control, said Constantino, who directs the William Greenleaf Eliot Division of Child and Adolescent Psychiatry at Washington University. We have spent years studying the transmission of inherited susceptibility to autism in families, and it now appears that by tracking eye movements in infancy, we can identify a key factor linked to genetic risk for the disorder that is present long before we can make a clinical diagnosis of autism.

The effects persisted as the children grew. When the twins were tested again about a year later, the same effects were found: Identical twins remained almost perfectly matched in where they looked, but fraternal twins became even more different than they were when initially evaluated.

Autism spectrum disorder is a lifelong condition that affects about 1 in 68 children in the United States. It is known to be caused by genetic factors, and earlier work by the Emory University team had shown that babies who look progressively less at peoples eyes, beginning as early as 2-6 months of age, have an elevated risk for autism. Meanwhile, Constantino and others in the group have studied how subtle behaviors and symptoms that characterize autism aggregate in the close relatives of individuals with autism, as a way to identity inherited susceptibilities that run in families and contribute to autism risk.

Studies like this one break new ground in our understanding of autism spectrum disorder: Establishing a direct connection between the behavioral symptoms of autism and underlying genetic factors is a critical step on the path to new treatments, said Lisa Gilotty, PhD, chief of the Research Program on Autism Spectrum Disorders at the National Institute of Mental Health, which provided support for the study in tandem with the Eunice Kennedy Shriver Institute of Child Health and Human Development.

Those new treatments could include interventions that motivate very young children to focus their gazes more on faces and less on objects.

Testing infants to see how they are allocating visual attention represents a new opportunity to evaluate the effects of early interventions to specifically target social disengagement, as a way to prevent the most challenging disabilities associated with autism, said senior author Warren R. Jones, PhD, director of autism research at the Marcus Autism Center at Emory. Such interventions might be appropriate for infants showing early signs of risk or those who have been born into families in which autism has affected close relatives. In addition, learning why some infants who tend to not look at eyes and faces develop without social disability is another priority.

The small percentage of healthy children who tended to avoid looking at eyes and faces may provide researchers with insight on how to successfully compensate for those tendencies and therefore inform the development of higher-impact interventions that will produce the best possible outcomes for infants with inherited susceptibility to autism.

In addition to Constantino, the research team at Washington Universityincluded Anne L. Glowinski, MD, a professor of child psychiatry and associate director of child and adolescent psychiatry;Natasha Marrus, MD, PhD, an assistant professor of child psychiatry; and Stefanie F. Kennon-McGill, PhD, a postdoctoral research associate in psychiatry.

As identical twins watched videos, they almost always looked for the same things at the same times and in the same places. Where gazes fell is marked by the plus signs. Fraternal twins didnt match as well as identical twins, indicating that genes control where children look.

Constantino JN, Kennon-McGill S, Weichselbaum C, Marrus N, Haider A, Glowinski AL, Gillespie S, Klaiman C, Klin A, Jones W. Infant viewing of social scenes is under genetic control and is atypical in autism. Nature. Published online July 12, 2017.

This work was supported by grants from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Mental Health of the National Institutes of Health (NIH), grant numbers HD068479 and U54 HD087011 (to Constantino and the Intellectual and Developmental Disabilities Research Center at Washington University) and MH100029 (to Jones and Klin at Emory). Other support was provided by the Missouri Family Register, a joint program of Washington University and the Missouri Department of Health and Senior Services.

Washington University School of Medicines 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation, currently ranked seventh in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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In autism, genes drive early eye gaze abnormalities - Washington University School of Medicine in St. Louis

At the meeting, the panel of experts did not question the lifesaving potential of the treatment in hopeless cases. But they raised concerns about potentially life-threatening side-effects short term worries about acute reactions like those Emily experienced, and longer-term worries about whether the infused cells could, years later, cause secondary cancers or other problems. So far, no such long-term problems have been detected, but not enough time has passed to rule them out.

Another parent at the meeting, Don McMahon, described his son Connors grueling 12 years with severe and relapsing leukemia, which started when he was 3. Mr. McMahon displayed painful photographs of Connor, bald and intubated during treatment. And he added that chemotherapy had left his son infertile. A year ago, the family was preparing for a bone-marrow transplant when they learned about T-cell treatment. Connor underwent the cell treatment at Duke University, and he has since returned to playing hockey. Compared with standard treatment, which required dozens of spinal taps and painful bone-marrow tests, the T-cell treatment was far easier to tolerate, Mr. McMahon said, and he urged the panel to vote for approval.

The treatment was developed by researchers at the University of Pennsylvania and licensed to Novartis.

Use will not be widespread at first, because the disease is not common. It affects only 5,000 people a year, about 60 percent of them children and young adults. Most children are cured with standard treatments, but in 15 percent of the cases like Emilys and Connors the disease does not respond, or it relapses.

Analysts predict that these individualized treatments could cost more than $300,000, but a spokesman for Novartis declined to specify a price.

Because the treatment is complex and patients need expert care to manage the side effects, Novartis will initially limit its use to 30 or 35 medical centers where staff will be trained and approved to administer it, the company said.

As to whether the treatment, known as CTL019, will be available in other countries, a Novartis spokeswoman said by email: Should CTL019 receive approval in the U.S., it will be the decision of the centers whether to receive international patients. We are working on bringing CTL019 to other countries around the world. She added that the company would file for approvals in the European Union later this year.

The treatment requires removing millions of a patients T-cells a type of white blood cell and genetically engineering them to kill cancer cells. The technique employs a disabled form of H.I.V., the virus that causes AIDS, to carry new genetic material into the T-cells to reprogram them. The process turbocharges the T-cells to attack B-cells, a normal part of the immune system that turn malignant in leukemia. The T-cells home in on a protein called CD-19 that is found on the surface of most B-cells.

The altered T-cells called chimeric antigen receptor cells are then dripped back into the patients veins, where they multiply and start fighting the cancer.

Dr. Carl H. June, a leader of the University of Pennsylvania team that developed the treatment, calls the turbocharged cells serial killers. A single one can destroy up to 100,000 cancer cells.

In studies, re-engineering cells for treatment sometimes took four months, and some patients were so sick that they died before their cells came back. At the meeting, Novartis said the turnaround time was now down to 22 days. The company also described bar-coding and other procedures used to keep from mixing up samples once the treatment is conducted on a bigger scale.

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FDA Panel Recommends Approval for Gene-Altering Leukemia Treatment - New York Times

Precision medicine is, ironically, an imprecise term.

As it is often used today, the phrase suggests that precision is novel to the practice of medicine, and to many, it means incorporating sophisticated genetic testing into its practice.

The term can even suggest that there are now possibilities of miracle cures that were never possible before.

Sometimes healthcare organizations encourage that attitude through their marketing and advertising, but to a degree, that kind of thinking more represents hype than substance.

And while genetic testing and the information it can provide can help better tailor treatment options for individual patients, especially in cancer care, experts say healthcare executives and clinicians must be careful not to encourage false hope among vulnerable patients and their families.

Yet in a time of rapid evolution of more precise and tailored treatment options, executives and clinicians are charged with divining the difficult calculus between the possible and the practical in their precision medicine organizational structure and service offerings.

In reality, precision has always been the goal of physicians as medicine has evolved over the past couple of hundred years, says Robert Mennel, MD, director of the Baylor Precision Medicine Institute in Dallas.

"In some areas we're there. We have well-accepted tests for certain diseases that, if you're not using them, I would consider to be malpractice in many situations," he says.

However, even top-level academic medicine is still quite far away from being able to look at an individual's whole genome and predict a therapy for every disease.

"But the promise of precision medicine is there, and medicine 10 years from now is going to be quite different than it is now," he says.

One area where genetic testing is ready for prime time is in noninvasive prenatal testing, says Scott A. Beck, administrator of the Center for Individualized Medicine at the Mayo Clinic in Rochester, Minn.

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Precision Medicine: Integration May Be Closer Than You Think - HealthLeaders Media

Mouse intestinal organoids that scientists genetically engineered to study colon cancer. Using gene editing technology, the investigators fused together the genes Ptprk and Rspo3 to determine their effect on cancer development. Credit: Cornell University

Genetic mutations caused by rearranged chromosomes drive the development and growth of certain colorectal cancers, according to new research conducted by Weill Cornell Medicine investigators.

Many of the genetic mutations present in colorectal cancer have been known for decades. But their exact role in cancer's development and progression has not been clear. "We knew that these mutations existed, but not whether they contribute to the disease," said Lukas Dow, an assistant professor of biochemistry in medicine and a member of the Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine. "So we are interested in whether they are actually driving cancer and whether they can potentially be targets for drugs that treat it."

In a paper published July 11 in Nature Communications, Dow and his colleagues describe how large pieces of chromosomes are deleted or inverted, resulting in new, mutated so-called fusion genes created from parts of two other genes that are responsible for the formation of some colon cancers.

The researchers used the gene editing technology CRISPR, which allows scientists to easily alter any piece of DNA in an organism, to cut the DNA in normal human intestinal cells and create fusion genes. In this way, they engineered the genetic mutations in two genes Rspo2 and Rspo3 known to be associated with colorectal cancer. They then created mice containing these genes to study the genes' effect on colon cancer development.

Though CRISPR has received a lot of attention in the last several years, this is the first time the tool has been used this way. "We created the first CRISPR-based transgenic animal model for inducing large-scale chromosomal rearrangements," Dow said.

These chromosomal rearrangements in the Rspo genes did in fact initiate growth of colon cancer in the mice. The mice containing the engineered genes developed multiple precancerous tumors that are the precursors to colorectal cancer. "This is the first evidence that these specific fusions can drive tumor development," Dow said.

Dow's team went on to treat the mice that developed cancer with an experimental drug, LGK974, which blocks a protein necessary for Rspo fusion genes to cause disease. "The tumors shrank and the mice were fine as long as they continued to take LGK974," Dow said. In addition, the drug only suppressed growth of the cancer cells; it had no obvious negative effect on healthy cells in the mouse intestine.

The study's results hold particular promise for the treatment of colorectal cancer in humans, Dow said. This form of cancer has historically been a difficult disease to treat. Chemotherapy drugs have limited impact against colorectal cancer and developing targeted therapies drugs that target aspects of cancer cells that make them different from healthy cells has proven difficult. "Our results give us confidence that if we can deliver LGK974 effectively to patients with these fusion genes," Dow said, "then we should be able to see some tumor response with these targeted agents."

Explore further: Novel gene editing approach to cancer treatment shows promise in mice

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'Fusion genes' drive formation and growth of colorectal cancer - Medical Xpress

Whenever biopharmaceutical experts and policymakers discuss medical innovation, they seem to focus only on drug discovery and development and access. While these aspects of innovation are critical to ensuring patients have safe and effective treatments, they dont provide a complete picture of the biopharmaceutical innovation model and the total investment needed to get the right medicine to the right patient at the right time. Whats missing? An understanding of the role of biopharmaceutical manufacturing and the need for a supportive policy environment in order to ensure the United States maintains its place as the leader in discovering, developing and delivering innovative medicines.

In the past decade, manufacturing has become an even more complex element of the biopharmaceutical innovation ecosystem as there have been several paradigm shifts in clinical treatments and pharmacology that make drug manufacturing significantly more challenging. First, therapeutic innovations previously developed to treat millions of patients the so-called blockbuster medicines have been replaced by the precision medicine model. This model integrates genetic information to help researchers understand which particular subgroup of patients will most likely benefit from a specific treatment. This scientific progress is leading to the development of medicines targeted for much smaller patient populations. Thus, biopharmaceutical companies now need to manufacture smaller batches and incorporate shorter production lines into their manufacturing process, which means they need to be more nimble and think beyond just efficiency to ensure production levels match the new innovative landscape in their manufacturing practices.

Second, diseases today are more often managed with medicines administered through intricate delivery systems. Complex therapies deliver important drugs directly to the site of the disease by bypassing traditional modes of delivery through oral intake. So now manufacturers have to think about how to make both the delivery device as well as the medicine.

Third, certain diseases are managed or prevented through biologics or vaccines. Unlike synthesized medicines which are made by combining specific chemical ingredients in a laboratory environment, these therapies are derived from living cell lines which cannot be fully characterized by traditional methods in a lab. For biologics and vaccines, the final product is influenced by the manufacturing process as the product is the process. An example of a therapy that requires this type of manufacturing complexity is a breakthrough vaccine for pneumococcal diseases. You may wonder what does it take to manufacture a single dose of that vaccine? It takes no less than 2.5 years, the collaboration of 1,700 researchers, engineers and other manufacturing experts, more than 400 raw materials and 678 quality tests in 581 steps to produce a single dose. Any minute deficiency in this long and laborious manufacturing process and/or ingredient integrity could possibly lead to failure.

Beyond better health, the benefit of manufacturing excellence is also captured in the economic value it generates for local communities in states all across the country. In the United States alone, there are close to 300,000 biopharmaceutical manufacturing jobs, with an average salary of close to $100,000 annually. This average salary is in the top 2 percent of all manufacturing jobs in the U.S. Pfizer currently has 17 manufacturing sites in 11 states and Puerto Rico that employ more than 12,000 people, and has invested $2 billion in these sites over the past five years. Estimates put Pfizers contribution to both direct and indirect jobs in the U.S. at 51,000.

The Pfizer facilities are not only responsible for manufacturing safe and innovative medicines, but some of the sites also produce active product ingredients. The API is the actual substance or raw material used to produce the medicine that patients consume. In fact, the Pfizer facility in Kalamazoo, Mich., is so cost-efficient that it manufactures APIs for methylprednisolone that Pfizer then sells to manufacturers in China and India, something not commonly observed in other traditional manufacturing sectors.

To make biopharmaceutical manufacturing a centerpiece of U.S. economic growth, policymakers need to address a few policy hurdles. First, they need to reform the U.S. tax code to encourage companies to further invest in U.S. pharmaceutical manufacturing. Next, the Food and Drug Administration ought to forge a proactive partnership with industry to develop practical regulatory solutions to advance and encourage domestic biopharmaceutical manufacturing expertise while protecting world-class quality control and good manufacturing processes. Lastly, the federal government needs to ensure appropriate and timely implementation of Section 3016 of the 21st Century Cures Act, which allows the FDA to issue grants to further the study of continuous manufacturing of drugs and biologics.

In an effort to get important medicines to patients in need, biopharmaceutical companies discover, develop, manage access and manufacture medicines. The innovation cycle is not complete if a company is not able to appropriately navigate the complicated yet crucial manufacturing process. A pro-active, supportive policy environment is the linchpin to ensuring the United States remains at the forefront of biopharmaceutical innovation and manufacturing.

Robert Popovian is the vice president of Pfizer U.S. Government Relations. He has two decades of experience in the biopharmaceutical health care industry and has published and presented extensively on the impact of pharmaceuticals and health care policies on health care costs and clinical outcomes.

Morning Consult welcomes op-ed submissions on policy, politics and business strategy in our coverage areas. Updated submission guidelines can be foundhere.

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The Future of Manufacturing a Medicine in America - Morning Consult

Outside of evolutionary biology, the human body is often spoken of as a miracle of engineering. But those more familiar with its workings point out evolution is no perfectionist, often favoring clunky ad hoc solutions over thosemore elegant in design. In fact, the comparison of evolution to a gambler might be the most apt, and nowhere is this more evident than in reference to genetic diseases like hemophilia. Now a recent study published in the Annals of Internal Medicine suggests far more people than previously thought are carrying variants of rare genetic diseases and could force us to redefine what is considered a healthy genome.

Genetic disorders are those resulting from mutations in ones DNA, often with horrendous results. Previously, scientists believedgenetic disorders were present in only a small fraction of the human population, 5 percent or less. After all, a population riven with genetic mistakes would quickly die out, or so went the logic. However, the present study puts the fraction of people with mutations linked to genetic diseases at something closer to 20 percent.

But is nature really so clumsy as to allow a veritable swarm of deleterious mutations to slip through her quality control mechanisms? It turns out many genetic disorders hide secret advantages. Take a person with the mutation that causes sickle cell anemia. A single copy of the mutation for sickle cellanemiaactually protects against the disease malaria. Its only if someone receivestwo copies of the defective gene that the problematic form of sickle cellanemia results. With many genetic disorders, nature seems to be hedging her bets, allowing some defects to slip through if they can provide a survival advantage to the population at large.

Counterintuitively, an individual suffering from a rare genetic disease may represent a successful population-level response to a given environment. This dance between genes and environments is at the heart of what we think of as health. But for most of history, medicine has considered the well being of an individual in isolation from population-level genetics. A more nuanced understanding of rare genetic diseases would take into account the various benefits genetic mistakes confer. This also suggests a cautious approach when editing our own genomes with tools like tools like CRISPR. Even seemingly terrible mutations we would be tempted to eliminate from the genetic pool may confer some secret advantage geneticists have yet to discover.

The study comes at a time when routine genetic testing is the subject of a far-ranging debate. Many doctors fear the release of genetic data to patients would cause undue anxiety. This study didnt support those claims, and goes a distance to undermine the paternalistic style of medicine currently practiced in many developed nations. In the United States, for instance, doctors remain a crucial chokepoint through which patients must pass through to access genetictesting. That said, anumber of direct-to-consumer genetic testing companies like 23andMe are breaking down these barriers, and a host of websites and even smartphone apps exist to help one make sense of their genetic data.

Now read: What is gene therapy?

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Far More People Than Thought Are Carrying Rare Genetic Diseases - ExtremeTech

Driven by specialised analytics systems and software, big data analytics has decreased the time required to double medical knowledge by half, thus compressing healthcare innovation cycle period, shows the much discussed Mary Meeker study titled Internet Trends 2017.

The presentation of the study isseen as an evidence of the proverbial big data-enabled revolution, that was predicted by experts like McKinsey and Company. "A big data revolution is under way in health care. Over the last decade pharmaceutical companies have been aggregating years of research and development data into medical data bases, while payors and providers have digitised their patient records, the McKinsey report had said four years ago.

Representational image. Reuters

The Mary Meeker study shows that in the 1980s it took seven years to double medical knowledge which has been decreased to only 3.5 years after 2010, on account of massive use of big data analytics in healthcare. Though most of the samples used in the study were US based, the global trends revealed in it are well visible in India too.

"Medicine and underlying biology is now becoming a data-driven science where large amounts of structured and unstructured data relating to biological systems and human health is being generated," says Dr Rohit Gupta of MedGenome, a genomics driven research and diagnostics company based in Bengaluru.

Dr Gupta told Firstpost that big data analytics has made it possible for MedGenome, which focuses on improving global health by decoding genetic information contained in an individual genome, to dive deeper into genetics research.

While any individual's genome information is useful for detecting the known mutations for diseases, underlying new patterns of complicated diseases and their progression requires genomics data from many individuals across populations sometimes several thousands to even few millions amounting to exabytes of information, he said.

All of which would have been a cumbersome process without the latest data analytics tools that big data analytics has brought forth.

The company that started work on building India-specific baseline data to develop more accurate gene-based diagnostic testing kits in the year 2015 now conducts 400 genetic tests across all key disease areas.

What is Big Data

According to Mitali Mukerji, senior principal scientist, Council of Scientific and Industrial Research when a large number of people and institutions digitally record health data either in health apps or in digitised clinics, these information become big data about health. The data acquired from these sources can be analysed to search for patterns or trends enabling a deeper insight into the health conditions for early actionable interventions.

Big data is growing bigger But big data analytics require big data. And proliferation of Information technology in the health sector has enhanced flow of big data exponentially from various sources like dedicated wearable health gadgets like fitness trackers and hospital data base. Big data collection in the health sector has also been made possible because of the proliferation of smartphones and health apps.

The Meeker study shows that the download of health apps have increased worldwide in 2016 to nearly 1,200 million from nearly 1,150 million in the last year and 36 percent of these apps belong to the fitness and 24 percent to the diseases and treatment ones.

Health apps help the users monitor their health. From watching calorie intake to fitness training the apps have every assistance required to maintain one's health. 7 minute workout, a health app with three million users helps one get that flat tummy, lose weight and strengthen the core with 12 different exercises. Fooducate, another app, helps keep track of what one eats. This app not only counts the calories one is consuming, but also shows the user a detailed breakdown of the nutrition present in a packaged food.

For Indian users, there's Healthifyme, which comes with a comprehensive database of more than 20,000 Indian foods. It also offers an on-demand fitness trainer, yoga instructor and dietician. With this app, one can set goals to lose weight and track their food and activity. There are also companies like GOQii, which provide Indian customers with subscription-based health and fitness services on their smartphones using fitness trackers that come free.

Dr Gupta of MedGenome explains that data accumulated in wearable devices can either be sent directly to the healthcare provider for any possible intervention or even predict possible hospitalisation in the next few days.

The Meeker study shows that global shipment of wearable gadgets grew from 26 million in 2014 to 102 million in 2016.

Another area that's shown growth is electronic health records. In the US, electronic health records in office-based physicians in United States have soared from 21 percent in 2004 to 87 percent in 2015. In fact, every hospital with 500 beds (in the US) generate 50 petabytes of health data.

Back home, the Ministry of Electronics and Information Technology, Government of India, runs Aadhar-based Online Registration System, a platform to help patients book appointments in major government hospitals. The portal has the potential to emerge into a source if big data offering insights on diseases, age groups, shortcomings in hospitals and areas to improve. The website claims to have already been used to make 8,77,054 appointments till date in 118 hospitals.

On account of permeation of digital technology in health care, data growth has recorded 48% growth year on year, the Meeker study says. The accumulated mass of data, according to it, has provided deeper insights in health conditions. The study shows drastic increase of citations from 5 million in 1977 to 27 million in 2017. Easy access to big data has ensured that scientists can now direct their investigations following patterns analysed from such information and less time is required to arrive at conclusion.

If a researcher has huge sets of data at his disposal, he/she can also find out patterns and simulate it through machine learning tools, which decreases the time required to arrive at a conclusion. Machine learning methods become more robust when they are fed with results analysed from big data, says Mukerji.

She further adds, These data simulation models, rely on primary information generated from a study to build predictive models that can help assess how human body would respond to a given perturbation, says Mukerji.

The Meeker also study shows that Archimedes data simulation models can conduct clinical trials from data related to 50,000 patients collected over a period of 30 years, in just a span of two months. In absence of this model it took seven years to conduct clinical trials on data related to 2,838 patients collected over a period of seven years.

As per this report in 2016 results of 25,400 number of clinical trial was publically available against 1,900 in 2009.

The study also shows that data simulation models used by laboratories have drastically decreased time required for clinical trials. Due to emergence of big data, rise in number of publically available clinical trials have also increased, it adds.

Big data in scientific research

The developments grown around big-data in healthcare has broken the silos in scientific research. For example, the field of genomics has taken a giant stride in evolving personalised and genetic medicine with the help of big data.

A good example of how big data analytics can help modern medicine is the Human Genome Project and the innumerous researches on genetics, which paved way for personalised medicine, would have been difficult without the democratisation of data, which is another boon of big data analytics. The study shows that in the year 2008 there were only 5 personalised medicines available and it has increased to 132 in the year 2016.

In India, a Bangalore-based integrated biotech company recently launched 'Avestagenome', a project to build a complete genetic, genealogical and medical database of the Parsi community. Avestha Gengraine Technologies (Avesthagen), which launched the project believes that the results from the Parsi genome project could result in disease prediction and accelerate the development of new therapies and diagnostics both within the community as well as outside.

MedGenome has also been working on the same direction. "We collaborate with leading hospitals and research institutions to collect samples with research consent, generate sequencing data in our labs and analyse it along with clinical data to discover new mutations and disease causing perturbations in genes or functional pathways. The resultant disease models and their predictions will become more accurate as and when more data becomes available.

Mukerji says that democratisation of data fuelled by proliferation of technology and big data has also democratised scientific research across geographical boundaries. Since data has been made easily accessible, any laboratory can now proceed with research, says Mukerji.

We only need to ensure that our efforts and resources are put in the right direction, she adds.

Challenges with big data

But Dr Gupta warns that big-data in itself does not guarantee reliability for collecting quality data is a difficult task.

Moreover, he said, In medicine and clinical genomics, domain knowledge often helps and is almost essential to not only understand but also finding ways to effectively use the knowledge derived from the data and bring meaningful insights from it.

Besides, big data gathering is heavily dependent on adaptation of digital health solutions, which further restricts the data to certain age groups. As per the Meeker report, 40 percent of millennial respondents covered in the study owned a wearable. On the other hand 26 percent and 10 percent of the Generation X and baby boomers, respectively, owned wearables.

Similarly, 48 percent millennials, 38 percent Generation X and 23 percent baby boomers go online to find a physician. The report also shows that 10 percent of the people using telemedicine and wearable proved themselves super adopters of the new healthcare technology in 2016 as compared to 2 percent in 2015. Collection of big data.

Every technology brings its own challenges, with big data analytics secure storage and collection of data without violating the privacy of research subjects, is an added challenge. Something, even the Meeker study does not answer.

Digital world is really scary, says Mukerji.

Though we try to secure our data with passwords in our devices, but someone somewhere has always access to it, she says.

The health apps which are downloaded in mobile phones often become the source of big-data not only for the company that has produced it but also to the other agencies which are hunting for data in the internet. "We often click various options while browsing internet and thus knowingly or unknowingly give a third party access to some data stored in the device or in the health app, she adds.

Dimiter V Dimitrov a health expert makes similar assertions in his report, 'Medical Internet of Things and Big Data in Healthcare'. He reports that even wearables often have a server which they interact to in a different language providing it with required information.

Although many devices now have sensors to collect data, they often talk with the server in their own language, he said in his report.

Even though the industry is still at a nascent stage, and privacy remains a concern, Mukerji says that agencies possessing health data can certainly share them with laboratories without disclosing patient identity.

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Big data analytics in healthcare: Fuelled by wearables and apps, medical research takes giant leap forward - Firstpost

Precision medicine is hot and Konica Minolta wants a piece of the action. To that end, its Healthcare Americas arm is paying $1 billion to acquire Ambry Genetics.

Innovation Network Corporation of Japan (INCJ) is helping to fund the deal.Konica Minolta Healthcare Americas and INCJwill make an all-cash payment of $800 million. Ambry shareholders will get up to $200 million over the next two years.

Konica views the deal as a stepping stone marking its debut as a player in the space and plans to bring Ambrys products to Japan and then to Europe, according to a news release. Shoei Yamana, Konica Minolta CEO said in a news release that the deal marks the first in a series of initiatives to build Konicas precision medicine profile.

The future of medicine is patient-focused. Together with Ambry, we will have the most comprehensive set of diagnostic technologies for mapping an individuals genetic and biochemical makeup, as well as the capabilities to translate that knowledge into information the medical community can use to discover, prevent, and cost-effectively treat diseases, Yamana said. This will not only serve as the future foundation for our healthcare business but will pave the way for a fundamental shift in the way medicine is practiced globally.

Ambrys diagnostic offerings span multiple fields, including neurology, oncology and womens health. As with most genomics services, the business will also be generating rich data as a byproduct of its sales. Konica may be able to tap into this information in myriad ways, from drug discovery to companion diagnostics and more. Its the foundations of todays precision medicine work.

Photo: maxsattana, Getty Images

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Konica Minolta establishing itself as precision medicine player with $1B Ambry Genetics deal - MedCity News

BBC News

6.8m genetic medicine plan for targeted treatment - BBC News BBC News Patients in Wales will benefit from stronger services and more expertise in genetic medicine, under a new strategy. The 6.8m plan has been designed to ensure ... Tories ask for government assurances over genetic medicine pledge ...Barry and District News Government strategy strives for tailor-made healthcarePenarth Times all 4 news articles »

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6.8m genetic medicine plan for targeted treatment - BBC News - BBC News

July 5, 2017 Credit: Cancer Research UK

Cancer patients should have routine access to genetic testing to improve diagnosis and treatment, according to England's chief medical officer.

Despite the UK being a world leader in genomic medicine its full potential is still not being realised, Professor Dame Sally Davies said in a new report.

Davies urged clinicians and the Government to work together and make wider use of new genetic techniques in an attempt to improve cancer survival rates.

Genetic testing can pinpoint the faults in DNA that have led to a cancer forming. Different cancers have different faults, and these determine which treatments may or may not work.

Such testing could lead to patients being diagnosed faster and receiving more targeted or precise treatments.

Davies said that "the age of precision medicine is now" and that the NHS must act quickly to remain world class.

"This technology has the potential to change medicine forever but we need all NHS staff, patients and the public to recognise and embrace its huge potential." said Davies.

Sir Harpal Kumar, Cancer Research UK's chief executive, agreed, saying that it would be a disservice to patients if the UK were slow to respond to innovations in this area.

The report recommends that within 5 years training should be available to current and future clinicians and that all patients should be being offered genomic tests just as readily as they're given MRI scans today.

Davies also called for research and international collaboration to be prioritised, along with investment in research and services so that patients across the country have equal access.

However the report recognises potential challenges such as data protection issues and attitudes of clinicians and the public.

"This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS," added Sir Kumar.

"Cancer Research UK is determined to streamline research, to find the right clinical trial for cancer patients and to ensure laboratory discoveries benefit patients".

And the design of clinical trials are starting to change. A number of trials are underway, like Cancer Research UK's National Lung Matrix Trial with AstraZeneca and Pfizer, where patients with a certain type of lung cancer are assigned a specific treatment based on the genetic makeup of their cancer.

However, Sir Harpal Kumar stressed that to bring the report's vision to life the Government, the NHS, regulators and research funders need to act together.

Explore further: Adding abiraterone to standard treatment improves prostate cancer survival by 40 percent

Cancer Research UK is partnering with pharmaceutical companies AstraZeneca and Pfizer to create a pioneering clinical trial for patients with advanced lung cancer marking a new era of research into personalised medicines ...

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Greater access to genetic testing needed for cancer diagnosis and ... - Medical Xpress

July 5, 2017 Credit: CC0 Public Domain

Pioneering research using the tropical zebrafish could provide new insights into the genetic basis of myopathy, a type of human muscle disease.

An international research team, led by Professor Philip Ingham FRS, inaugural Director of the University of Exeter's Living Systems Institutehas taken the first steps in determining the central role a specific gene mutation in a poorly characterised human myopathy.

Myopathies are diseases that prevent muscle fibres from functioning properly, causing muscular weakness. At present, there is no single treatment for the disease, as it can develop via a number of different pathways.

One particular type is nemaline myopathy, which primarily affects skeletal muscles and can lead to sufferers experiencing severe feeding and swallowing difficulties as well as limited locomotor activity.

Mutations in a specific gene, called MY018B, have recently been found to be present in people exhibiting symptoms of this disease, but the role these mutations play in muscle fibre integrity has until now been unclear.

In this new research, the Ingham team, based in Singapore and Exeter, has used high-resolution genetic analysis to create a zebrafish model of MYO18B malfunction; this research takes advantage of the remarkable similarity between the genomes of zebrafish and humans,which have more than 70 per cent of their genes in common.

The Singapore/Exeter team found that the MYO18B gene is active specifically in the 'fast-twitch' skeletal muscles of the zebrafish, typically used for powerful bursts of movement. Crucially, by studying fish in which the MYO18B gene is disrupted, they were able to show that it plays an essential role in the assembly of the bundles of actin and myosin filaments that give muscle fibres their contractile properties.

The team believe this new research offers a vital new step towards understanding the cause of myopathy in humans, which in turn could give rise to new, tailored treatments in the future.

The leading research is published in the scientific journal, Genetics.

Professor Ingham, said: "The identification of a MYO18B mutation in zebrafish provides the first direct evidence for its role in human myopathy and gives us a model in which to study the molecular basis of MYO18B function in muscle fibre integrity."

A pioneer in the genetic analysis of development using fruit flies and zebrafish as model systems, Prof Ingham is internationally renowned for his contributions to several influential discoveries in the field of developmental biology over the last century.

This is the latest research by Professor Ingham that has revealed important links between the processes that underpin normal embryonic development and disease.

His co-discovery of the 'Sonic Hedgehog' gene, recognised as one of 24 centennial milestones in the field of developmental biology by Nature, in 2004, led directly to the establishment of a biotechnology company that helped develop the first drug to target non-melanoma skin cancer.

The research comes at the University of Exeter holds the official opening of the Living Systems Institute with an Opening Symposium event, from July 5-6 2017.

Two Nobel Laureates, Sir Paul Nurse FRS and Christiane Nsslein-Volhard ForMemRS, who separately won the Nobel Prize for Physiology or Medicine, will deliver keynote speeches as part of the opening event.

The high-profile event, held at the University's Streatham Campus marks the official opening of the LSIa 52 million inter-disciplinary research facility designed to bring new, crucial insights into the causes and preventions of some of the most serious diseases facing humanity.

A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B is published in Genetics.

Explore further: Zebrafish help identify mutant gene in rare muscle disease

Journal reference: Genetics

Provided by: University of Exeter

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Research could give insight into genetic basis of of the human muscle disease, myopathy - Medical Xpress

BBC News

Chief medical officer calls for gene testing revolution - BBC News BBC News Cancer patients should be routinely offered DNA tests to help select the best treatments for them, according to England's chief medical officer. Prof Dame Sally ... UK medical chief vows to spread 'genetics dream'Financial Times All cancer patients should have their DNA tested to save lives, Chief Medical Officer saysTelegraph.co.uk Cancer breakthrough: Treatment could be personalised to YOU by using your genesExpress.co.uk Sky News -iNews -BT.com all 25 news articles »

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Chief medical officer calls for gene testing revolution - BBC News - BBC News

Cancer patients should have routine access to genetic testing to improve diagnosis and treatment, according to Englands chief medical officer.

Despite the UK being a world leader in genomic medicine its full potential is still not being realised, Professor Dame Sally Davies said in a new report.

This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS. - Sir Harpal Kumar, Cancer Research UK

Davies urged clinicians and the Government to work together and make wider use of new genetic techniques in an attempt to improve cancer survival rates.

Genetic testing can pinpoint the faults in DNA that have led to a cancer forming. Different cancers have different faults, and these determine which treatments may or may not work.

Such testing could lead to patients being diagnosed faster and receiving more targeted or precise treatments.

Davies said that the age of precision medicine is now and that the NHS must act quickly to remain world class.

This technology has the potential to change medicine forever but we need all NHS staff, patients and the public to recognise and embrace its huge potential. said Davies.

Sir Harpal Kumar, Cancer Research UKs chief executive, agreed, saying that it would be a disservice to patients if the UK were slow to respond to innovations in this area.

The report recommends that within 5 years training should be available to current and future clinicians and that all patients should be being offered genomic tests just as readily as theyre given MRI scans today.

Davies also called for research and international collaboration to be prioritised, along with investment in research and services so that patients across the country have equal access.

However the report recognises potential challenges such as data protection issues and attitudes of clinicians and the public.

This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS, added Sir Kumar.

Cancer Research UK is determined to streamline research, to find the right clinical trial for cancer patients and to ensure laboratory discoveries benefit patients.

And the design of clinical trials are starting to change. A number of trials are underway, like Cancer Research UKs National Lung Matrix Trial with AstraZeneca and Pfizer, where patients with a certain type of lung cancer are assigned a specific treatment based on the genetic makeup of their cancer.

However, Sir Harpal Kumar stressed that to bring the reports vision to life the Government, the NHS, regulators and research funders need to act together.

View original post here:
Greater access to genetic testing needed for cancer diagnosis and treatment - Cancer Research UK

Two new studies suggest that one in five seemingly healthy people hasDNA mutations that puts him or herat increased risk for genetic disease.

BlackJack3D/iStockPhoto

By Ryan CrossJun. 26, 2017 , 6:15 PM

Some doctors dream of diagnosing diseasesor at least predicting disease riskwith a simple DNA scan. But others have said the practice, which could soon be the foundation of preventative medicine, isnt worth the economic or emotional cost. Now, a new pair of studies puts numbers to the debate, and one is the first ever randomized clinical trial evaluating whole genome sequencing in healthy people. Together, they suggest that sequencing the genomes of otherwise healthy adults can for about one in five people turn up risk markers for rare diseases or genetic mutations associated with cancers.

What that means for those people and any health care system considering genome screening remains uncertain, but some watching for these studies welcomed the results nonetheless. It's terrific that we are studying implementation of this new technology rather than ringing our hands and fretting about it without evidence, says Barbara Biesecker, a social and behavioral researcher at the National Human Genome Research Institute in Bethesda, Maryland.

The first genome screening study looked at 100 healthy adults who initially reported their family history to their own primary care physician. Then half were randomly assigned to undergo an additional full genomic workup, which cost about $5000 each and examined some 5 million subtle DNA sequence changes, known as single-nucleotide variants, across 4600 genessuch genome screening goes far beyond that currently recommended by the American College of Medical Genetics and Genomics (ACMG), which suggests informing people of results forjust 59 genes known or strongly expected to cause disease.

Of the 50 participants whose genomes were sequenced, 11 had alterations in at least one letter of DNA suspected to causeusually rarediseases, researchers report today in The Annals of Internal Medicine. But only two exhibited clear symptoms. One was a patient with extreme sensitivity to the sun. Their DNA revealed a skin condition called variegate porphyria. Now that patient knows they will be much less likely to get bad sunburns or rashes if they avoid the sun and certain medications, says Jason Vassy, a primary care clinician-investigator at Veteran Affairs Boston Healthcare System and lead author of the study.

The team also found that every sequenced patient carried at least one recessive mutation linked to a diseasea single copy of a mutant gene that could cause an illness if two copies are present. That knowledge can be used to make reproductive decisionsa partner may get tested to see if they have a matching mutationand prompt family members to test themselves for carrier status. And in what Vassy calls a slightly more controversial result, the team examined participants chances of developing eight polygenic diseases, conditions that are rarely attributed to a single genetic mutation. Here, they compiled the collective effects of multiple genesup to 70 for type II diabetes and 60 for coronary heart diseaseto predict a patients relative risk of developing the disease.

Just 16% of study volunteers who only reported their family history were referred to genetic counselors or got follow-up laboratory tests. In the genome sequencing group, the number was 34%.

Some researchers have expressed concern that such whole genome screening will skyrocket medical costs or cause undue psychological harm. Aside from the initial cost of sequencing (which was covered by the study), patients who underwent the genomic screen paid an average of $350 additional in healthcare costs over the next 6 months, Vassy and colleagues reported. But contrary to fears of emotional trauma, neither the sequencing group nor the control group showed any changes in anxiety or depression 6 months after the study.

Vassy stresses that their study was small and needs follow-up, but it still impressed Christa Martin, a geneticist at Geisinger Health System, in Danville, Pennsylvania, who worked on the ACMGs recommendations for genome sequencing. I almost feel like the authors undersold themselves, she says. Many of their patients are making health behavioral changes, so they are using the information in a positive way.

The study was extremely well designed and very appropriately run, adds Barbara Koenig, a medical anthropologist who directs the University of CaliforniaSan Francisco Bioethics Program. But she still questions the assumption by many physicians, ethicists, and patient advocates that more information is always beneficial. It is just hard to know how all this information is going to be brought together in our pretty dysfunctional healthcare system.

Another paper published last week on the preprint server bioRxiv, which has not yet undergone peer review, yields similar results. Using whole-exome sequencing, which looks only at the protein-coding regions of the genome, Michael Snyder, director of the Stanford Center for Genomics and Personalized Medicine in Palo Alto, California, and colleagues found that 12 out of 70 healthy adults, or 17%, unknowingly had one or more DNA mutations that increased the risk for genetic diseases for which there are treatment or preventative options.

Both studies suggest that physicians should look at genes beyond the ACMGs 59 top priorities, Snyder says. He argues that whole-genome sequencing should be automatically incorporated into primary care. You may have some super-worriers, but I would argue that the information is still useful for a physician to have. Vassy, however, says that there isnt yet enough evidence to ask insurance companies to reimburse whole genome sequencing of healthy patients.

We like a quick fix and the gene is an important cultural icon right now, so we probably give it more power than it really has, Koenig says. But these are still really early days for these technologies to be useful in the clinic.

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One in five 'healthy' adults may carry disease-related genetic mutations - Science Magazine

Patients who underwent genetic screenings now fear that documentation of the results in their medical records could lead to problems if a new health law is enacted. Sam Edwards/Caiaimage/Getty Images hide caption

Patients who underwent genetic screenings now fear that documentation of the results in their medical records could lead to problems if a new health law is enacted.

Two years ago, Cheasanee Huette, a 20-year-old college student in Northern California, decided to find out if she was a carrier of the genetic mutation that gave rise to a disease that killed her mother. She took comfort in knowing that whatever the result, she'd be protected by the Affordable Care Act's guarantees of insurance coverage for pre-existing conditions.

Her results came back positive. Like her mother, she's a carrier of one of the mutations known as Lynch syndrome. The term refers to a cluster of mutations that can boost the risk of a wide range of cancers, particularly colon and rectal.

As Republican lawmakers advance proposals to overhaul the ACA's consumer protections, Huette frets that her future health coverage and employment options will be defined by that test.

She even wonders if documentation of the mutation in her medical records and related screenings could rule out individual insurance plans. She's currently covered under her father's policy. "Once I move to my own health care plan, I'm concerned about who is going to be willing to cover me, and how much will that cost," she says.

In recent years, doctors have urged patients to be screened for a variety of diseases and predisposition to illness, confident it would not affect their future insurability. Being predisposed to an illness such as carrying the BRCA gene mutations associated with breast and ovarian cancer does not mean a patient will come down with the illness. But knowing they could be at risk may allow patients to take steps to prevent its development.

Under the current health law, many screening tests for widespread conditions such as prediabetes are covered in full by insurance. The Centers for Disease Control and Prevention and the American Medical Association have urged primary care doctors to test patients at risk for prediabetes. But doctors, genetic counselors and patient advocacy groups now worry that people will shy away from testing as the ACA's future becomes more uncertain.

Dr. Kenneth Lin, a family physician at Georgetown University School of Medicine in Washington, D.C., says if the changes proposed by the GOP become law, "you can bet that I'll be even more reluctant to test patients or record the diagnosis of prediabetes in their charts." He thinks such a notation could mean hundreds of dollars a month more in premiums for individuals in some states under the new bill.

Huette says she's sharing her story publicly since her genetic mutation is already on her medical record.

But elsewhere, there have been "panicked expressions of concern," says Lisa Schlager of the patient advocacy group Facing Our Risk of Cancer Empowered (FORCE). "Somebody who had cancer even saying, 'I don't want my daughter to test now.' Or 'I'm going to be dropped from my insurance because I have the BRCA mutation.' There's a lot of fear."

Those fears, which come in an era of accelerating genetics-driven medicine, rest upon whether a gap that was closed by the ACA will be reopened. That remains unclear.

A law passed in 2008, the Genetic Information Nondiscrimination Act, bans health insurance discrimination if someone tests positive for a mutation. But that protection stops once the mutation causes "manifest disease" essentially, a diagnosable health condition.

That means "when you become symptomatic," although it's not clear how severe the symptoms must be to constitute having the disease, says Mark Rothstein, an attorney and bioethicist at the University of Louisville School of Medicine in Kentucky, who has written extensively about GINA.

The ACA, passed two years after GINA, closed that gap by barring health insurance discrimination based on pre-existing conditions, Rothstein says.

On paper, the legislation unveiled by Senate Majority Leader Mitch McConnell last week wouldn't let insurers set higher rates for people with pre-existing conditions, but it could effectively exclude such patients from coverage by allowing states to offer insurance plans that don't cover certain maladies, health analysts say. Meanwhile, the bill that passed the House last month does have a provision that allows states to waive protections for people with pre-existing conditions, if they have a gap in coverage of 63 days or longer in the prior year.

When members of a Lynch Syndrome social media group were asked for their views on genetic testing amid the current health care debate, about two dozen men and women responded. Nearly all said they were delaying action for themselves or suggesting that family members, particularly children, hold off.

Huette was the only one who agreed to speak for attribution. She says before the ACA was enacted, she witnessed the impact that fears about insurance coverage had on patients. Her mother, a veterinarian, had wanted to run her own practice but instead took a federal government job for the guarantee of health insurance. She died at the age of 57 of pancreatic cancer, one of six malignancies she had been diagnosed with over the years.

Huette says she doesn't regret getting tested. Without the result, Huette points out, how would she have persuaded a doctor to give her a colonoscopy in her 20s?

"Ultimately, my health is more important than my bank account," she says.

Kaiser Health News, a nonprofit health newsroom whose stories appear in news outlets nationwide, is an editorially independent part of the Kaiser Family Foundation.

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Patients Who Tested Positive For Genetic Mutations Fear Bias ... - NPR - NPR

June 30, 2017

Uncovering rare susceptibility variants that contribute to the causes of complex diseases requires large sample sizes and massively parallel sequencing technologies. These sample sizes, often made up of exome and genome data from tens to hundreds of thousands of individuals, are often too large for current analytical tools to process. A team at Baylor College of Medicine, led by Dr. Suzanne Leal, professor of molecular and human genetics, has developed new software called SEQSpark to overcome this processing obstacle. A study on the new technology appears in The American Journal of Human Genetics.

"To handle these large data sets, we built the SEQSpark tool based on the commonly used Spark program, which allows SEQSpark to utilize multiple processing platforms to increase the speed and efficiency of performing data quality control, annotation and rare variant association analysis," Leal said.

To test and validate the versatility and speed of SEQSpark, Leal and her team analyzed benchmarks from the whole genome sequence data from the UK10K, testing specifically for waist-to-hip ratios.

"The analysis and related tasks took about one and a half hours to complete, in total. This includes loading the data, annotation, principal components analysis and single and rare variant aggregate association analysis for the more than 9 million variants present in this sample set," explained Di Zhang, a postdoctoral associate in the Leal lab at Baylor and first author on the paper.

To evaluate SEQSpark's performance in a larger data set, Leal and the research team generated 50,000 simulated exomes. The SEQSprak program ran the analysis for a quantitative trait using several variant aggregate association methods in an hour and forty-five minutes.

When compared to other variant association tools, SEQSpark was consistently faster, reducing computation to a hundredth of the time in some cases.

"What is unique about SEQSpark is that it is scalable, and smaller labs can run it without super specific hardware, and it can also be run in a multi-server environment to increase its speed and capacity for large genetic data sets," Zhang said. "It is ideal for large-scale genetic epidemiological studies and is highly efficient from a computational standpoint."

"We see this software as being very useful as the demand for the analysis of massively parallel sequence data grows. SEQSpark is highly versatile, and as we analyze increasingly large sets of rare variant data, it has the potential to play a key role in furthering personalized medicine," Leal said.

In the future, Leal and her team will continue to test and increase SEQSpark's capabilities and will be analyzing soon data sets that have 500,000 samples or more.

Explore further: Genetic test for familial data improves detection genes causing complex diseases such as Alzheimer's

More information: Di Zhang et al. SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies using Whole-Genome and Exome Sequence Data, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.05.017

A team of researchers at Baylor College of Medicine has developed a family-based association test that improves the detection in families of rare disease-causing variants of genes involved in complex conditions such as Alzheimer's. ...

Precision medicine, which utilizes genetic and molecular techniques to individually tailor treatments and preventative measures for chronic diseases, has become a major national project, with President Obama launching the ...

A multi-institutional team of researchers has sequenced the DNA of 6,700 exomes, the portion of the genome that contains protein-coding genes, as part of the National Heart, Lung and Blood Institute (NHLBI)-funded Exome Sequencing ...

(Medical Xpress)Via genetic analysis, a large international team of researchers has found rare, damaging gene variants that they believe contribute to the risk of a person developing schizophrenia. In their paper published ...

Human genome sequencing costs have dropped precipitously over the last few years, however the analytical ability to meet the growing demand for making sense of large data sets remains as a bottleneck. With the introduction ...

Researchers at EMBL-EBI have developed a new approach to studying the effect of multiple genetic variations on different traits. The new algorithm, published in Nature Methods, makes it possible to perform genetic analysis ...

Following up on findings from a an earlier genome-wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced ...

Although the basic outlines of human hearing have been known for years - sensory cells in the inner ear turn sound waves into the electrical signals that the brain understands as sound - the molecular details have remained ...

Using a new skin cell model, researchers have overcome a barrier that previously prevented the study of living tissue from people at risk for early heart disease and stroke. This research could lead to a new understanding ...

The first results from a functional genetic catalogue of the laboratory mouse has been shared with the biomedical research community, revealing new insights into a range of rare diseases and the possibility of accelerating ...

Whole genome sequencing involves the analysis of all three billion pairs of letters in an individual's DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease. However, the ...

Researchers have found that genes for coronary heart disease (CAD) also influence reproduction, so in order to reproduce successfully, the genes for heart disease will also be inherited.

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Researchers build SEQSpark to analyze massive genetic data sets - Medical Xpress

Born in August, Charlie Gard has a rare genetic disorder known as mitochondrial DNA depletion syndrome. Caused by a genetic mutation, it leads to weakened muscles and organ dysfunction, among other symptoms, with a poor prognosis for most patients.

Charlie is on life support and has been in the intensive care unit at the Great Ormond Street Hospital for Children in London since October. His doctors wish to take him off life support, but his parents disagree.

"The domestic courts concluded that it would be lawful for the hospital to withdraw life sustaining treatment because it was likely that Charlie would suffer significant harm if his present suffering was prolonged without any realistic prospect of improvement, and the experimental therapy would be of no effective benefit," a press release from the court announcing the decision said.

Charlie's parents appealed to the UK Supreme Court to decide the best interests of their child. After they lost that appeal, the 10-month-old was due to have his life support switched off at the end of the day June 13.

Gard and Yates then filed a request with the European Court of Human Rights, an international court based in Strasbourg, France, to consider the case.

The original ruling to provide life support until June 13 was extended by European Court of Human Rights initially for one week, until June 19. Rather than making a decision then, the court granted a three week-extension, until July 10, to allow for a more informed decision by the court. That extension ended Tuesday with the courts decision.

However, parental rights are not absolute, and in cases in which doctors and parents disagree, the courts may exercise objective judgment in a child's best interest.

In April, a judge tasked with ruling on the impasse between doctors and parents decided in favor of the Great Ormond Street Hospital doctors. In his decision, Justice Francis said life support treatment should end so Charlie could die with dignity.

The boy's parents challenged this ruling in May, yet it was upheld by a Court of Appeal. Three Supreme Court justices later dismissed another challenge from the couple.

Since Charlie's birth, "his condition has deteriorated seriously," the UK Supreme Court stated in a decision June 8; his brain is severely affected, and "he cannot move his arms or legs or breathe unaided."

On this basis, the court ruled that the child's life support should be switched off June 13, but the family appealed to the European court.

Charlie's parents argued that the UK courts gave insufficient weight to their own human rights, and some of Charlie's human rights, in their decision-making, Wilson said.

After the European court's ruling to extend the deadline while judges considered the case further, the Supreme Court told doctors it "would not be unlawful" to continue to provide life support.

After the extension, a Supreme Court hearing was requested by the government and the Great Ormond Street Hospital for Children, which did not know whether the Strasbourg court order was legally binding in the UK, Wilson explained.

"There was also a secondary issue, which was that (Great Ormond Street Hospital's) legal representatives were concerned that at present, doctors did not have sufficient legal clarity about what they can and can't do if Charlie's condition deteriorates," Wilson said. "So this court was also invited to consider whether any UK court, and if so which court, should handle that matter."

In fact, it has never been used to treat this form of mitochondrial DNA depletion syndrome, according to the British ruling, though it has proved beneficial to patients with a different form of the disease.

"He literally has nothing to lose but potentially a healthier, happier life to gain," they said.

Parents are rightly at the "heart" of decisions made about life-sustaining treatment for critically ill children, noted Dominic Wilkinson, director of medical ethics at the Oxford Uehiro Centre.

"Sadly, reluctantly, doctors and judges do sometimes conclude -- and are justified in concluding -- that slim chances of life are not always better than dying." Sometimes, the "best that medicine can do" -- and the most ethical decision -- is to provide comfort and to avoid painful and unhelpful medical treatments, he wrote.

The court said the decision was meticulous, noting that they spoke with Charlie's health care providers, independent experts, experts recommended by the family, and Charlie's parents to inform the ruling. In the end, the press released said they determined, "it was most likely Charlie was being exposed to continued pain, suffering and distress and that undergoing experimental treatment with no prospects of success would offer no benefit, and continue to cause him significant harm."

CNN's Stephanie Halasz, Debra Goldschmidt and Judith Vonberg contributed to this report.

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Court rules hospital can withdraw life support for sick baby Charlie Gard - CNN International

June 29, 2017 Micrograph showing prostatic acinar adenocarcinoma (the most common form of prostate cancer) Credit: Wikipedia

Scientists have had limited success at identifying specific inherited genes associated with prostate cancer, despite the fact that it is one of the most common non-skin cancers among men. Researchers at University of Utah Health studied prostate cancer patients with multiple cancer diagnoses, many who would not be recommended for genetic tests following current guidelines, to identify genetic mutations that may influence cancer treatment and cancer risk assessment for family members. Their findings are reported in the June issue of the journal Cancer.

"We commonly use a combination of a patient's personal and family cancer histories to identify those individuals who may have a mutation in a gene that predisposes that individual to developing cancers," said Patrick Pili, M.D., medical oncology fellow at the University of Texas MD Anderson Cancer Center. "Testing for hereditary cancers impacts not only the patient with cancer but also potentially the cancer screening and health outcomes of their entire family, but many prostate cancer patients do not meet the current guidelines to test for genetic cancer heritability."

Pili was part of a research team led by Kathleen Cooney, M.D., chair of the Department of Internal Medicine at U of U Health and a Huntsman Cancer Institute investigator, who proposed a strategy to identify germline mutations in men selected for the study based on their clinical history not their family history.

The study was highly selective, including 102 patients who had been diagnosed with prostate cancer and at least one additional primary cancer, like melanoma, pancreatic cancer, testicular cancer, or Hodgkin lymphoma.

The researchers examined the frequency of harmful germline mutations in this group of men. These mutations originate on either the egg or sperm and become incorporated into the DNA of every cell in the body of the resulting offspring.

Using next generation sequencing, the researchers found that 11 percent of the patients had a disease-causing mutation in at least one cancer-predisposing gene, which suggests these genetic variations contributed to their prostate cancer. Cooney found no difference in cancer aggressiveness or age of diagnosis compared to patients without these mutations.

In addition, a certified genetic counselor and co-investigator Elena Stoffel, M.D., University of Michigan Comprehensive Cancer Center, reviewed personal and family histories from each patient to determine whether they would meet clinical genetic testing guidelines. The majority of the men in the study, 64 percent, did not meet current criteria to test for hereditary cancer based on personal and/or family history.

The findings suggest that there are men with heritable prostate cancer-predisposing mutations that are not eligible for genetic screening under current guidelines.

"This is the first paper in which we can show the potential of using a clinical history of multiple cancers, including prostate cancer, in a single individual to identify inherited germline mutations," Cooney said.

The majority of harmful mutations identified were in genes involved in DNA repair.

"These mutations prevent the DNA from healing itself, which can lead to a predisposition for cancer," Cooney said.

This result is also beneficial because drugs like PARP [poly ADP ribose polymerase] inhibitors have a better success rate in treating cancers with the underlying gene mutation associated with DNA repair.

Cooney cautions that this is a small pilot study rather than a broader epidemiological survey, and it consists of a highly specific subset of patients.

"We cannot generalize these findings to the broader population, because we used highly selective criteria to tip us off to patients that may have mutations outside typical hereditary genetic patterns," she said.

The 102 patients included in the study were identified from the University of Michigan's Prostate Cancer Genetics Project, which registers patients who are diagnosed with prostate cancer before age 55 or who have a first- or second-degree relative with prostate cancer. In addition, the research team identified patients from the University of Michigan's Cancer Genetics Registry, which includes individuals with personal or family history suggestive of a hereditary risk of cancer.

"Our findings are in line with those of other studies, suggesting that approximately 1 in 10 men with advanced prostate cancer harbors a genetic variant associated with increased cancer risk," said Stoffel. "While family history is an important tool, there may be better ways to identify patients with genetic risk."

Future studies with larger sample sizes will include sequencing of tumors that will allow investigators to more carefully explore the different features associated with tumors that arise in individuals with germline mutations.

"This approach will help us identify patients at greater risk for aggressive prostate cancer so they can seek earlier screening while pre-symptomatic," Cooney said.

Explore further: Are men with a family history of prostate cancer eligible for active surveillance?

More information: Patrick G. Pili et al. Germline genetic variants in men with prostate cancer and one or more additional cancers, Cancer (2017). DOI: 10.1002/cncr.30817

Journal reference: Cancer

Provided by: University of Utah

Active surveillancecareful monitoring to determine if or when a cancer warrants treatmentis an increasingly prevalent choice for prostate cancer, but it's unclear if the strategy is appropriate for men with a family ...

Inherited mutations in genes that function to repair DNA may contribute to metastatic prostate cancer more than previously recognized, according to a study out today in the New England Journal of Medicine. Though infrequent ...

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Researchers propose new approach to identify genetic mutations in ... - Medical Xpress

June 26, 2017 Credit: CC0 Public Domain

Between 15 and 20 percent of black people carry a genetic mutation that puts them at risk for certain chronic kidney disease, but only about half of them develop the illness - a variance that long has puzzled researchers. Now a study has found that the gene mutation's toxic effects require higher than normal levels of a protein called suPAR to trigger the onset and progression of the disease.

The results of the study, published in a research article in the journal Nature Medicine today, could lead soon to new treatments for chronic kidney disease that target these risk factors, according to Dr. Jochen Reiser, the senior author of the paper. Reiser is the chairperson of the Department of Internal Medicine and Ralph C. Brown MD Professor of Medicine at Rush University Medical Center, Chicago.

Chronic kidney disease - or CKD for short - is a progressive failure of function that prevents kidneys from fulfilling their role filtering waste from the blood stream. Nearly 17 percent of people in the U.S. have chronic kidney disease, and approximately 4 percent require dialysis and/or a kidney transplant due to kidney failure. Currently, there are no drugs that can treat CKD in an effective way.

Study analyzed samples from more than 1,000 people with genetic risk for CKD

For the study recounted in the Nature Medicine paper, Reiser worked with a team that included researchers at Emory University, Harvard University, Johns Hopkins University, the National Institute of Health, Ruprecht Karls University of Heidelberg, the Israel Institute of Technology and others. Together, they looked at two well-known genetic risk factors for CKD in black people, the mutated G1 or G2 variations in the gene known as apolipoprotein L1 (APOL1). To be at risk for developing CKD, an individual must have inherited two of these gene variants, one from each parent.

The study analyzed blood samples for suPAR levels, screened for APOL1 gene mutations and measured kidney function from two separate cohorts of black patients - 487 people from the Emory Cardiovascular Biobank, 15 percent of whom had a high-risk APOL1 genotype; and 607 from the multi-center African American Study of Kidney Disease and Hypertension, including 24 percent with the high-risk mutation.

Using these two large, unrelated cohorts, the researchers found that plasma suPAR levelsindependently predict renal function decline in individuals with two copies of APOL1 risk variants. APOL1-related risk is reduced by lower levels of plasma suPAR and strengthened by higher levels.

The team then went on and used purified proteins to study if suPAR and APOL1 bind to each other. They found that the mutated G1 and G2 variant did so particularly well on what's known as a receptor on the surface of kidney cells, in this case the suPAR activated receptor alphavbeta3 integrin. "This binding appears to be a key step in the disease onset" adds Dr. Kwi Hye Ko, a scientist at Rush and the study's co-first author.

This binding causes kidney cells to change their structure and function, permitting disease onset. Using cell models and genetically engineered mice, the authors then could reproduce kidney disease changes upon expression of APOL1 gene variants, but the disease required the presence suPAR.

Without elevated suPAR levels, genetic mutation much less likely to trigger disease

Everybody has suPAR, which is produced by bone marrow cells, in their blood, with normal levels around 2400 picogram per milliliter (pg/ml). As levels of suPAR rise, risk for kidney disease rises in turn.

Patients with levels above 3000 picogram per milliliter carry a much higher risk for kidney disease in the general population. Black people are particularly at risk, given the study's finding that suPAR activates its receptor on kidney cells that then attract the APOL1 risk proteins. Over time, these assaults can damage and eventually destroy the kidney.

On the other hand, without high levels of suPAR, the ability of the genetic mutation of APOL1 to exert its damaging effects is impaired, which helps identify patients in most need of suPAR lowering or future anti-suPAR therapy.

"Patients with APOL1 mutations who don't get kidney disease have more commonly low suPAR levels," said Dr. Salim Hayek, co-first author of the paper and a cardiologist at Emory University School of Medicine. "The suPAR level needs to be high to activate the mechanism in the kidney that enables APOL1 proteins" and set off the chain of events the genetic mutation can trigger.

suPAR 'is to the kidneys as cholesterol is to the heart'

Like some other pathological gene mutations, the APOL1 variations may have persisted in the population, in this case in Africa, because they could protect people from infection with the parasites known as trypanosome. explained Sanja Sever, PhD, co-correspondent author of the paper and associate professor of medicine at Harvard Medical School. In the United States, however, fighting parasitic trypanosomes isn't a significant concern, while lifestyle and environmental pressures such as obesity promote the rise in suPAR levels. This scenario sets up people for high risk of kidney disease.

Reiser has spent his career studying a scarring type of chronic kidney disease, focal segmental glomerulosclerosis. In past studies, he discovered that suPAR not only is a marker for kidney disease, but also a likely cause.

"What we are learning today is that suPAR in a general way is to kidneys what cholesterol is to the heart, a substance that can cause damage if levels rise too high, or a substance that can likely make many forms of kidney disease worse," Reiser says. "Based on these fundamental insights, suPAR level testing may become a routine test at many institutions around the world."

Like cholesterol, suPAR levels vary from person to person. Some environmental factors can contribute significantly to elevated suPAR levels. "Lifestyle is a big factor, bigger than we thought," Reiser says.

Smoking, weight gain and even frequent infections can add up and send suPAR to dangerous heights. Weight loss and smoking cessation can help bring levels down, but once elevated, suPAR may not recede to a healthy level again, said Dr. Melissa Tracy, co-author of the study and an associate professor of cardiology at Rush. People at genetic risk for kidney disease should aim to live a healthy life to keep suPAR levels low.

Explore further: Circulating blood factor linked with a leading cause of kidney failure

More information: A tripartite complex of suPAR, APOL1 risk variants and v3 integrin on podocytes mediates chronic kidney disease, Nature Medicine (2017). DOI: 10.1038/nm.4362

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Catalyst for genetic kidney disease in black people identified - Medical Xpress

Picture a time in the not-too-distant future when whole genome sequencing is routine. A time when, before babies even learn to talk, their parents will have the ability to learn what the future may have in store for their offspring: Is their little girl predisposed to getting breast cancer? Will their happy-go-lucky son one day develop Alzheimer's?

"There is no doubt in my mind that, in addition to going in and having blood chemistry done, you're gonna have DNA sequencing done, too. It will be there at some point," says Nicholas Schork, a quantitative geneticist at the J. Craig Venter Institute in La Jolla, California, who has studied genomic medicine for more than three decades. "We can debate about the timeline, but it'll become routine."

The hope is that genetic testing will make health care more effective by allowing doctors and patients to focus on areas that need attention the patient's genetic "vulnerabilities." At the same time, patients may learn of areas where they won't need to be quite as vigilant. And treatments could, in turn, be perfectly tailored to a patient's specific needs.

But as with any significant and broadly applicable medical advance, there are questions. For example, should patients learn that they carry markers for currently incurable genetic diseases, or that they are at high risk for developing a condition like Alzheimer's, which has no effective treatment? And just who owns all that genetic data? Who will have access to it?

Even with important questions left unanswered, health educators are moving forward to take advantage of the promises genetic testing offers. Washington State University's new Elson S. Floyd College of Medicine has announced it is partnering with Arivale, a Seattle-based company that conducts whole genome sequencing, to help complete a portrait of a person a "portrait" that can be used to promote wellness over that individual's entire lifespan. Every member of the school's inaugural class will have the opportunity to undergo testing, which will also include blood tests and a lifestyle evaluation. Then, over the next year, Arivale's team of nurses and dietitians will provide individually tailored follow-up, based on each individual's risks and goals. It's a unique partnership, made possible in large part because the medical school is new, with its first class of students starting in 2017.

Allowing the medical students to experience genetic testing firsthand is just part of the goal. "We need physicians that understand it well enough that they can make it better going forward," says John Tomkowiak, founding dean of WSU's College of Medicine. "That's where our students are going to be uniquely positioned."

WHAT GENES TELL US

Genetic testing already provides important information about a person's health or their heritage. Hospitals screen newborn babies for certain genetic disorders, and in some cases, tests can detect disorders before birth. And diagnostic testing can confirm, or rule out, many disorders in adults.

Testing doesn't have to be ordered by a physician. For $200, you can provide a saliva sample, mail it back to 23andMe.com and find out not only your ancestry, but also your risks for a number of diseases, including Alzheimer's and Parkinson's. Ancestry.com offers a glimpse into your heritage for $99. Color.com claims to reveal your risk for the most common hereditary cancers, and even offers "complimentary genetic counseling" for a $249 fee.

But if genetic testing is to revolutionize the health care industry, as many have promised, there's still a ways to go. "The technology is at the beginning stages," says Thomas May, a faculty researcher for the HudsonAlpha Institute for Biotechnology.

Companies like 23andMe offer genetic tests that may provide information about some genetic disorders from currently known genetic variants. But whole genome sequencing is different; it will reveal all your individual genetic variants.

How valuable is that information? There are a relatively small number of conditions that researchers are confident result from a specific genetic variant, May says. For example, there is one variant that researchers have found is associated with an increased risk of developing breast or ovarian cancer. A genetic test that shows an increased risk for breast cancer is considered an "actionable" outcome, meaning there are things you can do to prevent the outcome, like beginning mammograms earlier. Though there are more than 50 actionable outcomes like that, it's still a relatively small number.

Adding to the confusion is the fact that not everyone who develops breast cancer actually has the genetic variant in fact, May says only about 10 percent do. So even if testing shows that you don't have the "breast cancer gene," that doesn't mean it's OK to stop getting mammograms.

"Most variants and correlations are of that type: We can't say for certain if you're gonna get a disease," May says.

Doctors are mixed about whether genetic testing is currently having a real impact on patients. In a May survey conducted by the Medscape Physician Oncology Report on Genomics Testing, 71 percent of oncologists surveyed felt that genetic testing was either "very" or "extremely" important to the oncology field. At the same time, 61 percent said that, currently, fewer than a quarter of their patients would actually benefit from genetic testing.

The number of diseases with "actionable" outcomes will inevitably grow, as more people are tested and more data becomes available. But this leaves deeper questions, says Schork, the quantitative geneticist. A company or health care provider would likely give patients information about diseases that can be prevented or cured. If someone is predisposed to obesity, for instance, then he or she can elect to receive targeted care to reduce that risk.

But what about diseases that, right now, are incurable?

Take Huntington's disease, a genetic disorder that breaks down nerve cells in the brain. It's rare, but it's a "hideous way to die," Schork says. A person can be screened at the age of 25 and be found to carry the Huntington's gene, but there's debate about whether or not that information should be shared with a client or not. The same goes for genetic variants related to Alzheimer's disease.

"If there's nothing they can do about it, then there's a concern about whether or not that information should be imparted," Schork says.

When the Food and Drug Administration ordered 23andMe to stop telling customers their odds of contracting diseases in 2013, Harvard Medical School genetics professor Robert Green and Laura Beskow, a professor at Duke University's Institute for Genome Sciences and Policy, argued against the FDA. They cited a number of studies showing that direct-to-consumer genetic testing does not cause a large percentage of customers despair. In an interview with the New York Times in April, Green said the potential for distress based on results of a genetic test for Alzheimer's was "much smaller than anticipated."

Another question: Who really owns the DNA data that is being collected from willing users of genetic testing? Consider Myriad, a company that offers genetic testing both to help determine cancer risk and design better treatment plans for patients who already have cancer. The company has something that "others do not," Schork says: insight into which genetic variants predispose women to breast cancer.

What Myriad is really selling, then, is not the genetic test itself, but access to insights it has gained through mining its database, insights that can be leveraged into whatever level of payment the company decides to charge.

It's potentially critical information that could help save a life, and some argue that the data should be in the public domain not held by a private company.

"There have been huge debates about whether the community should challenge the monopoly that Myriad has," Schork says. "There are many groups out there that would like to counteract the monopoly Myriad has, by building public domain data sets."

JUST ONE TOOL

"Genetic testing is not a blueprint. It's really not," says Jennifer Lovejoy, chief translational science officer for Arivale. "Genes are really just one factor the environment, diet, exercise, pollutants and even emotional state have a big impact on genes."

That's why Arivale not only collects genetic information on each client, but also evaluates various blood tests and lifestyle factors to create a "dense data cloud" of information about a patient.

"That is the grand vision: that everybody would have these dense, dynamic data clouds, and understand the choices that will be optimal to optimize wellness and avoid disease," says Lovejoy.

Arivale touts the success stories among its nearly 2,000 clients. One client found out he had a gene associated with high sensitivity to saturated fat, giving him a better indication of an appropriate diet that helped him lose weight. Another client discovered that his genes may have an impact on his cholesterol. Another learned he was at risk of developing diabetes.

Ideally, this type of preventive care will soon be covered by insurance, Lovejoy says. The thinking is that preventing disease will bring down the cost of health care overall, making insurers likely to cover more preventive care, "but we have to prove it," Lovejoy says. Researchers are conducting studies and trials to do just that, and if they can prove it, then genetic testing could soon be routine in health care.

"If you think about what health care should mean, it should mean, one, the ability to deal with disease and that's what everyone does today," Arivale co-founder Leroy Hood said at a press conference in April announcing the company's partnership with WSU. "But two, it should mean the ability to optimize wellness for each individual. That is, improving their health and/or letting them avoid disease." That's a concept Hood calls "scientific wellness, and he thinks it could lead to "a whole new health care industry in the future."

Tomkowiak, of WSU's College of Medicine, agrees: "The concept of scientific wellness has the potential to disrupt the entire industry by shifting the cost curve, by keeping people healthier and reducing the cost of health care overall."

Regardless of whether or not Arivale becomes an industry leader, Tomkowiak believes that the practice of medicine will be fundamentally altered in the near future.

"We absolutely believe that seven years from now, the practice of scientific medicine and scientific wellness will be common," he says. "Instead of being behind the curve, we want... to be leading this effort."

For about $3,500, clients can sign up for Arivale's program. The fee includes whole genome sequencing, which is also available from other sources. So how do Arivale clients achieve "scientific wellness"? Here are the elements of their program:

Welcome package: Clients get a welcome package with a Fitbit to track sleep, activity and heart rate. The package asks for information to help understand a client's bacteria in their gut, and asks for a sample of saliva to measure a person's stress level.

Online test: Clients take a series of online assessments about their goals, health history, lifestyle, stress, personality and happiness.

Call from coach: You'll talk to a coach who will get to know what you want to accomplish and give you a personalized action plan.

Labs: You'll take blood tests so your coach can understand your current health. While you're there, they'll take your vital signs.

A picture emerges: The various test create a picture of you, which an Arivale coach will use to provide a step-by-step plan to "optimize your wellness," according to the company.

Follow-up: You're not done yet. You'll be contacted by your coach regularly to review your action plan, and Arivale will provide reports on how you're progressing. Every six months, you'll complete another set of clinical labs.

Source: arivale.com/your-journey

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What's In Your Genes? - Pacific Northwest Inlander