President Obamas $215 million plan to expand research for cancer treatments to fit each individuals genetic makeup could mark a major shift in modern medicine, according to local geneticists.

I think there may be a tipping point soon when people realize genomic medicine is valuable, and this may be part of it, said George Church, professor of genetics at Harvard Medical School. This seems to be part of a grass-roots groundswell that will lead to everyone wanting to have access to their genomic data.

The effort, which Obama called the precision medicine initiative, would study the genes of about a million volunteers to figure out how to personalize treatments for patients instead of using the same approach for each condition.

Doctors have always recognized that every patient is unique, and doctors have always tried to tailor their treatments as best they can to individuals, Obama said yesterday at the White House as he announced the initiative. You can match a blood transfusion to a blood type. That was an important discovery. What if matching a cancer cure to our genetic code was just as easy, just as standard?

The initiative will be in the budget Obama sends to Congress on Monday.

The president said the effort would provide the National Cancer Institute funds to identify genetic factors that cause cancer to help develop sophisticated new treatments. The U.S. Food and Drug Administration would also receive money to evaluate next-generation genetic tests.

Dr. Robert Green, a medical geneticist and physician-scientist at Brigham and Womens Hospital and Harvard Medical School, said the effort is something that the field has yearned for for many years.

Itll be a wonderful accelerator of progress, he said.

He added that while there is some skepticism about whether the field is solid enough now to invest in, this is exactly what is needed to take us to the point where we can start proving the worth of genomic medicine.

Local biotech executives, including from Vertex Pharmaceuticals and Foundation Medicine, were at the White House event.

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Barack Obama eyes gene therapy growth

The United States has proposed analysing genetic information from more than one million volunteers as part of a new initiative to understand human disease.

The proposal also includesdeveloping medicines targeted to an individual's genetic make-up.

At the heart of the "precision medicine" initiative, announcedby President Barack Obama, is the creation of a pool of people - healthy and ill, men and women, old and young - who would be studied to learn how genetic variants affect health and disease.

Officials hope genetic data from several hundred thousand participants in ongoing genetic studies would be used and other volunteers recruited to reach the onemillion total.

"Precision medicine gives us one of the greatest opportunities for new medical breakthroughs we've ever seen," Mr Obama said, promising that it would "lay a foundation for a new era of life-saving discoveries."

The near-term goal is to create more and better treatments for cancer, DrFrancis Collins, director of the National Institutes of Health (NIH), told reporters on a conference call on Thursday.

Longer term, he said, the project would provide information on how to individualise treatment for a range of diseases.

The initial focus on cancer, he said, reflects the lethality of the disease and the significant advances against cancer that precision medicine has already made, though more work is needed.

The president proposed $215 million in his 2016 budget for the initiative.

Of that, $130 million would go to the NIH to fund the research cohort and $70 million to NIH's National Cancer Institute to intensify efforts to identify molecular drivers of cancer and apply that knowledge to drug development.

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US launches precision medicine research project

Friday, January 30 17:16:45

The United States has proposed analyzing genetic information from more than 1 million American volunteers as part of a new initiative to understand human disease and develop medicines targeted to an individual's genetic make-up.

At the heart of the "precision medicine" initiative, announced on Friday by President Barack Obama, is the creation of a pool of people - healthy and ill, men and women, old and young - who would be studied to learn how genetic variants affect health and disease.

Officials hope genetic data from several hundred thousand participants in ongoing genetic studies would be used and other volunteers recruited to reach the 1 million total.

"Precision medicine gives us one of the greatest opportunities for new medical breakthroughs we've ever seen," Obama said, promising that it would "lay a foundation for a new era of life-saving discoveries."

The near-term goal is to create more and better treatments for cancer, Dr. Francis Collins, director of the National Institutes of Health (NIH), told reporters on a conference call on Thursday. Longer term, he said, the project would provide information on how to individualize treatment for a range of diseases.

The initial focus on cancer, he said, reflects the lethality of the disease and the significant advances against cancer that precision medicine has already made, though more work is needed.

The president proposed $215 million in his 2016 budget for the initiative. Of that, $130 million would go to the NIH to fund the research cohort and $70 million to NIH's National Cancer Institute to intensify efforts to identify molecular drivers of cancer and apply that knowledge to drug development.

A further $10 million would go to the Food and Drug Administration to develop databases on which to build an appropriate regulatory structure; $5 million would go to the Office of the National Coordinator for Health Information Technology to develop privacy standards and ensure the secure exchange of data.

The effort may raise alarm bells for privacy rights advocates who have questioned the government's ability to guarantee that DNA information is kept anonymous.

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US want to analyse DNA of 1m people

InterAksyon.com The online news portal of TV5

WASHINGTON - The United States has proposed analyzing genetic information from more than 1 million American volunteers as part of a new initiative to understand human disease and develop medicines targeted to an individual's genetic make-up.

At the heart of the "precision medicine" initiative, announced on Friday by PresidentBarackObama, is the creation of a pool of people - healthy and ill, men and women, old and young - who would be studied to learn how genetic variants affect health and disease.

Officials hope genetic data from several hundred thousand participants in ongoing genetic studies would be used and other volunteers recruited to reach the 1 million total.

"Precision medicine gives us one of the greatest opportunities for new medical breakthroughs we've ever seen," Obama said, promising that it would "lay a foundation for a new era of life-saving discoveries."

The near-term goal is to create more and better treatments for cancer, Dr. Francis Collins, director of the National Institutes of Health (NIH), told reporters on a conference call on Thursday. Longer term, he said, the project would provide information on how to individualize treatment for a range of diseases.

The initial focus on cancer, he said, reflects the lethality of the disease and the significant advances against cancer that precision medicine has already made, though more work is needed.

The president proposed $215 million in his 2016 budget for the initiative. Of that, $130 million would go to the NIH to fund the research cohort and $70 million to NIH's National Cancer Institute to intensify efforts to identify molecular drivers of cancer and apply that knowledge to drug development.

A further $10 million would go to the Food and Drug Administration to develop databases on which to build an appropriate regulatory structure; $5 million would go to the Office of the National Coordinator for Health Information Technology to develop privacy standards and ensure the secure exchange of data.

The effort may raise alarm bells for privacy rights advocates who have questioned the government's ability to guarantee that DNA information is kept anonymous.

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US proposes effort to analyze DNA from 1 million people

President Obama on Friday rolled out a proposal to invest $215 million this year in an initiative to advance "precision medicine," an approach to disease prevention and treatment that moves beyond a "one-size-fits" all approach.

Precision medicine "gives us one of the greatest opportunities for new medical breakthroughs that we have ever seen," Mr. Obama said from the East Room of the White House.

"Doctors have always recognized that every patient is unique," he continued, noting that doctors that can match a blood transfusion to a blood type.

"What if matching a cancer cure to our genetic code was just as easy?" the president asked. "That's the promise of precision medicine, delivering the right treatments at the right time, every time, to the right person."

Precision medicine takes into account people's genes, environments and lifestyles, giving clinicians tools to better understand the mechanisms underlying certain diseases and conditions -- and which treatments to use. Already, it's used for a small but growing number of patients. For instance, doctors can use genetic testing to determine whether an HIV patient will be helped by a certain antiviral drug.

"What's so exciting is we have the possibility of leading a new era of medicine," Mr. Obama said.

"We shouldn't just celebrate innovation, we have to invest in innovation... and make sure that we're channeling it in ways that are most productive," he continued, noting how the Polio vaccine was distributed widely with the help of Congress.

Mr. Obama said the time is right to invest in precision medicine because of the advances in technology and medicine, as well as the bipartisan political support for it.

"This is how you know the moment is right, is there's bipartisan support for the idea here in Washington," he said.

Specifically, Mr. Obama's budget will include a proposal to give the National Institutes of Health (NIH) $130 million for the development of a voluntary national research cohort of at least a million volunteers. The proposal would give $70 million to the National Cancer Institute (part of NIH) to scale up efforts to identify genomic drivers in cancer. Another $10 million would go to the Food and Drug Administration to develop high-quality databases for the reach, while the Office of the National Coordinator for Health Information Technology would get $5 million to develop privacy and security standards for the research.

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Obama rolls out plan to invest $215 million in "precision medicine"

The centerpiece of President Obamas new precision medicine initiative would be a massive database containing the genetic profiles, medical histories and other data of a million or more willing Americans.

The effort, which federal officials said would partly include pooling volunteers from existing studies into a single project, is aimed at helping doctors and researchers better understand the complicated mechanisms underlying any number of illnesses.

This research will dramatically advance our knowledge of diseases, how they originated and how we may prevent or treat them, said Francis Collins, director of the National Institutes of Health.

Obama plans to outline the idea Friday morning at the White House in front of academics, researchers and drug-industry officials. It is part of a broader initiative to bolster precision medicine, which tries to tailor treatments and preventive measures based on individuals makeup.

It holds the potential to revolutionize the way we approach health in this country and, ultimately, around the world, Jo Handelsman, associate director for science at the White House Office of Science and Technology Policy, told reporters before Fridays announcement. Precision medicine is about moving beyond [the] one-size-fits-all approach to medicine and, instead, taking into account peoples genes, their microbiomes, their environments and their lifestyles.

President Obama told a gathering of Democratic lawmakers that he welcomed Republicans who are talking about addressing income inequality and poverty.

As part of that push, the president plans to ask Congress for a $215 million investment when he unveils his annual budget request next week.

About $130 million of that would go to the NIH to develop the national database, which would protect patients identities but allow researchers to share reams of genetic data. The Food and Drug Administration and the Office of the National Coordinator for Health Information Technology would receive $10 million and $5 million, respectively, to evaluate and fast-track new innovations and build the technological infrastructure to share data securely. Another $70 million would go to the National Cancer Institute to scale up research into more and better treatments for specific types of cancer.

Proponents of the approach often point to advances in the cancer field as an example of the promise of precision, or personalized, medicine. In recent years, the FDA has approved numerous drugs that can target specific types of the disease effectively.

The push toward more targeted therapies in recent years also has led to breakthroughs for other diseases, including hepatitis C and cystic fibrosis. Kalydeco, approved by the FDA in 2012, targets the underlying genetic cause of cystic fibrosis for a small subset of patients with a specific mutation.

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Obama seeks $215 million for personalized medicine effort

WASHINGTON (AP) President Barack Obama is calling for an investment to move away from one-size-fits-all-medicine, toward an approach that tailors treatment to your genes.

The White House said Friday that Obama will ask Congress for $215 million for what he's calling a precision medicine initiative. The ambitious goal: Scientists will assemble databases of about a million volunteers to study their genetics and other factors such as their environments and the microbes that live in their bodies to learn how to individualize care.

As Obama put it in his State of the Union address, he wants the U.S. "to lead a new era of medicine, one that delivers the right treatment at the right time."

Also called personalized medicine, this is a hot but challenging field in medical research. It's yielded some early results.

For example, it's becoming more common for patients with certain cancers to undergo molecular testing in choosing which drug is their best match. People with a rare form of cystic fibrosis now can choose a drug designed specifically to target the genetic defect causing their illness. Some medical centers, such as the Mayo Clinic, have opened "individualized medicine clinics."

But only recently has the cost of genomic sequencing dropped enough, and the computer power of medicine increased, to make it possible for large-scale pursuit of the approach, said Dr. Francis Collins, director of the National Institutes of Health, which will lead the initiative.

The hope is to "harness the power of science to find individualized health solutions," Collins said.

In the short term, precision medicine holds the most promise for cancer because scientists already know a lot about the molecular signatures of different tumors, Collins said.

Details of the initiative still are being worked out, but the NIH plans to use some large genomic studies already under way as well as new volunteers, he said.

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Obama proposes 'precision medicine' to end one-size-fits-all

The United States has proposed analyzing genetic information from more than 1 million American volunteers as part of a new initiative to understand human disease and develop medicines targeted to an individual's genetic make-up.

At the heart of the initiative, to be announced on Friday by President Barack Obama, is the creation of a pool of people - healthy and ill, men and women, old and young - who would be studied to learn how genetic variants affect health and disease.

Officials hope genetic data from several hundred thousand participants in ongoing genetic studies would be used, and other volunteers recruited to reach the 1 million total.

The near-term goal is to create more and better treatments for cancer, Dr. Francis Collins, director of the National Institutes of Health (NIH), told reporters on a conference call on Thursday. Longer term, he said, the project would provide information on how to individualize treatment for a range of diseases.

The initial focus on cancer, he said, is due partly to the lethality of the disease and partly because targeted medicine, known also as precision medicine, has made significant advances in cancer, although much more work is needed.

The president has proposed $215 million in his 2016 budget for the initiative. Of that, $130 million would go to the NIH to fund the research cohort and $70 million to NIH's National Cancer Institute to intensify efforts to identify molecular drivers of cancer and apply that knowledge to drug development.

A further $10 million would go to the Food and Drug Administration to develop databases on which to build an appropriate regulatory structure; $5 million would go to the Office of the National Coordinator for Health Information Technology to develop privacy standards and ensure the secure exchange of data.

The effort may raise alarm bells for privacy rights advocates who in the past have questioned the government's ability to guarantee that DNA information is kept anonymous. They have expressed fear participants may become identifiable or face discrimination.

SEQUENCING 1 MILLION GENOMES

The funding is not nearly enough to sequence 1 million genomes from scratch. Whole-genome sequencing, though plummeting in price, still costs about $1,000 per genome, Collins said, meaning this component alone would cost $1 billion.

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U.S. proposes effort to analyze DNA from 1 million people

The precision medicine initiative proposed by President Barack Obama last week would center on a huge new biobank containing medical records and genetic information for perhaps a million Americans. It would not be created from scratch by enrolling new volunteers, however, but would instead pull together existing studies into one giant database.

Thats according to several scientists familiar with the broad outlines of the project who spoke on background with ScienceInsider. The biobank would be used for studies ranging from finding new disease-gene associations to working out how to use genomic and other molecular information in routine medical care. On Friday, the White House is expected to reveal details of the initiative, which will reportedly cost hundreds of millions of dollars.

Such a national biobank would put the United States in line with other countries, such as the United Kingdom, Iceland, and Japan, which have built large population databases for research and medical care. A similar U.S. biobank has long been on the wish list of National Institutes of Health (NIH) Director Francis Collins, who led the effort to sequence the human genome as director of the National Human Genome Research Institute (NHGRI).

The term precision medicine, however, is relatively new. It comes from a 2011 report from the National Academies National Research Council (NRC) that called for combining medical records and genetic and other molecular data for large groups of people into a single knowledge network that would be used for understanding diseases and tailoring treatments.

Keith Yamamoto, a member of the NRC panel and vice chancellor for research at the University of California, San Francisco, insists that precision medicine is not just a new buzzword for personalized medicine. Instead, it is a much broader endeavor, because it would integrate a huge range of biological data, for example on model organisms. Both basic researchers and clinicians could draw on the network, he says. Its a giant integration mill from which stuff would fall out from the bottom as new knowledge, says Yamamoto, who has conferred witht the White House Office of Science and Technology Policy on the topic.

As a pilot project, NRC suggested building a large research database with medical and genetic data on 1 million adults. That appears to be reflected in the precision medicine initiative. The plan is to link up existing NIH-sponsored cohort studies and large biobanks created by health care providers. They may range from the famed 67-year-old Framingham Heart Study in Massachusetts funded by the National Heart, Lung, and Blood Institute (NHLBI) to research databases being built by the Marshfield Clinic in Wisconsin and Kaiser Permanente in San Francisco that are linking genetic data with health records.

Some have questioned whether it is feasible to combine medical records from different sources for researchdata are often missing or collected in different ways. Theres a lot of fuzziness, says cardiac disease researcher Dan Roden, who leads Vanderbilt Universitys BioVU biobank in Nashville. But an NIH-funded project called eMERGE that combines medical records from Vanderbilt and eight other medical centers has shown that it can be done, Roden says.

One matter to be worked out for a megabiobank is which cohorts to include, says human geneticist David Goldstein of Columbia University, a member of the 2011 NRC panel. For example, you absolutely must have recontactability, or permission from patients to be called and asked to come into a clinic for further exams and tests. Some biobanks, such as Vanderbilts, do not have that consent from participants, Roden notes.

Assembling a cohort that represents the diversity of the U.S. population will also be important. For that reason, one of the largest planned U.S. biobanksthe Department of Veterans Affairs Million Veteran Programwould not be enough, because its mostly men.

Another question is whether to sequence the whole genomes of participants, or just the 1% that codes for proteins, which would be cheaper. Researchers will also need to work out ways to share genomic data securely, perhaps drawing on existing efforts to develop standards.

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Obama precision medicine plan would create huge U.S ...

Already, this genetic mapping and analysis, a key component of the emerging medical specialty known as precision medicine, is being practiced at various academic centers and private specialist doctors' offices. With a trained practitioner and the appropriate diagnostics, you can learn if you have a genetic predisposition to early menopause, for instance, allowing you the chance to decide whether to get pregnant now, or to freeze your eggs. Or if you're in danger of a heart attack, even though you are a triathlete. Or if you have a predisposition to a disease, that in your case can be sparked by stress, giving you the time to explore meditation, if not medication.

Read More Obama defiantly pushes agenda in State of the Union

This proactive and deeply personalized approach is clearly the future of medicine. But with President Obama's announcement of a new precision medicine Initiative during his State of the Union address, we may see an acceleration of both the funding and availability for this wealth of genetic data.

The president gave little detail.

He said: "Tonight, I'm launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes and to give all of us access to the personalized information we need to keep ourselves and our families healthier."

Read MoreDrug deal to target cancer at genetic level: CEO

The White House has promised more information about what all of this means. But a few things are apparent:

First, the attention and funding that could come to this field will be of tremendous benefit to vitality and life spans. Twenty-first century technology and its interpretation by adept clinicians will allow individuals to drill down beneath their surfaces, deep into the complex cellular substance of life and the genetic material that makes each of us a uniquely functioning laboratory.

Second, expanded precision medicine availability will be a colossal disruptor of many health-care system components, from family doctors to hospital systems to medical insurers. Once this approach takes hold in the popular perception, the health-care consumer particularly the baby boomers will seek greater ownership of their personal health destiny.

Lastly, complex raw data require expert analysis, and there will be a wide and frustrating gap, especially at first, between the promise of what can be done with genetic information and the realities of understanding the data and making it actionable. Already, this has occurred with 23andMe, the mail-in genetic reporting kit that had to stop selling part of its service due to FDA objections. The raw data need expert translation to be meaningful.

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Taking genetic mapping to the next level

A new genetic study shows even siblings with autism often have very different DNA mutations from one another a finding that strengthens the evidence that autism is often just genetic bad luck.

The deep dive into the DNA of 170 people with autism spectrum disorder shows that more than 69 percent of brothers and sisters with autism had different DNA mutations underlying their disorders, Dr. Stephen Scherer of The Hospital for Sick Children in Toronto, Canada and colleagues found.

"It's random mutation in these families. It just happens to be lightning striking twice," Scherer said.

"It just happens to be lightning striking twice."

The findings, published in the journal Nature Medicine, add to other research that shows "autism" is a broad term for a range of developmental disorders that are barely related to one another. The catchall name could be making it seem like one disorder is affecting many kids, when in fact it's a range of conditions.

"It is largely just a random effect," Scherer said. "Everybody in the population accumulates new mutations in the genome when they are conceived."

Autism spectrum disorder can range from the mild social awkwardness, including Asperger's syndrome, to profound mental retardation, debilitating repetitive behaviors and an inability to communicate. There's no cure, but experiments with early treatment suggest it can help.

Autism is becoming more and more common among U.S. kids, and researchers don't quite understand why. The last survey by the Centers for Disease Control and Prevention showed 2 percent of U.S. children have been diagnosed with an autism spectrum disorder one in 68 kids.

Studies also show it's clear that genetic mutations are responsible for a lot of it. Autism can run in families.

Scherer's team set out to see if siblings with autism were inheriting some common pattern of mutations from their parents. They recruited 85 families where more than one child had been diagnosed, and sequenced everyone's entire genome.

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Autism Genes Randomly Mutated, Study Finds

TIME Health Autism Siblings With Autism Less Similar Than Previously Thought, Study Says Surprising study has implications for care

The majority of siblings diagnosed with autism do not share the same genetic mutation, according to a new study.

Using whole-genome sequencing technology, scientists looked at the genetic material of 85 families that had two children diagnosed with autism, the New York Times reports. Of those sibling pairs, about 30% shared the same genetic glitch, while roughly 70% did not. Those who shared the same genetic issue had similar habits compared to those who didnt.

We anticipated that, more often than not, there would be shared inheritance said Dr. Stephen Scherer, professor of medicine at the University of Toronto and the projects research director. That wasnt the case.

Some experts say the study, which appears in the journal Nature Medicine, will likely lead to changes in hospitals, whose staff sometimes study the oldest child with autism to gain insight into the younger childs diagnosis. Hospitals also use genetic profiles to advise parents about the likelihood of having another child with the same diagnosis.

This study makes us step back and realize were not necessarily going to get as much predictive value out of genetic mapping as we thought, Helen Tager-Flusberg, a Boston University developmental neuroscientist who didnt work on the study, told the Times.

[NYT]

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Siblings With Autism Less Similar Than Previously Thought, Study Says

Less than a third of autistic brothers and sisters share the same genetic risk factors. Photograph: Jane Bown

A major study of autism in families has found that brothers and sisters who have the condition often carry different genetic risk factors that make them prone to the disorder.

Research on 85 families found that siblings with autism had the same genetic risk factors less than one third of the time. In nearly 70% of cases, tests on the siblings revealed little or no overlap in the mutations known to contribute to the condition.

The findings challenge the presumption that the same genetic risk factors are at work when autism runs in families. We knew that there were many differences in autism, but our recent findings firmly nail that down, said Stephen Scherer at the University of Toronto.

This means we should not be looking just for suspected autism-risk genes, as is typically done in diagnostic genetic testing, Scherer added. Instead, he said a full assessment of a persons genome was needed if genetic information was ever going to inform their treatment.

In years of research, scientists have identified more than 100 genetic mutations that seem to contribute to autism, suggesting that a wide variety of biological processes are involved in the behavioural disorder.

In the latest study, known autism-risk genes were found in 42% of the families who took part. Brothers and sisters who shared autism-related mutations displayed more similar symptoms than those who did not, according to a report in Nature Medicine.

The genomes gathered for the study have become the first to be added to a database run by the charity, Autism Speaks, which aims to make at least 10,000 full genomes from people with autism available for researchers to work on.

Judith Brown at the National Autistic Society said the study added to scientists appreciation of the substantial and complex role that genetics played in autism, but that more work was needed to truly understand autisms genetic make-up.

The findings suggest that there is significant genetic diversity among people which autism, she said. This reaffirms the importance of viewing each person with autism as an individual and identifying support appropriate to their needs, rather than approaching all people in the same way.

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Autism cases in same family more often carry different genetic risks study

Released: 26-Jan-2015 9:30 AM EST Source Newsroom: Mayo Clinic Contact Information

Available for logged-in reporters only

Newswise Rochester, Minn. Precision medicine is becoming a national catchphrase after President Obama highlighted it in his State of the Union address. But what exactly is it? Richard Weinshilboum, M.D., acting director of the Mayo Clinic Center for Individualized Medicine, describes this new, rapidly advancing frontier in medicine and outlines 10 changes that would speed development and help more patients benefit from a personalized approach to health care:

What is precision medicine? In precision medicine, also called individualized medicine or personalized medicine, physicians use knowledge about a persons personal genetic makeup to help determine the best plan for disease prevention, diagnosis and treatment. The mapping of the human genome in 2003 by U.S. scientists jump-started medical genomics; the Human Genome Project was an immense international collaboration that took 13 years and cost $3.8 billion. The National Institutes of Healths National Human Genome Research Institute, which coordinated the project, estimates economic growth from that project at $798 billion.

"We are now poised to apply genomic technologies developed with the findings of the Human Genome Project into everyday patient care, Dr. Weinshilboum says.

However, if the U.S. is to remain the world leader in health care innovation and delivery, we need another national genomics effort that will accelerate scientific discovery and clinical implementation while continuing to encourage the rapid technological innovations and entrepreneurialism that have gotten us to this point."

What would help the U.S. continue to lead in precision medicine? President Obamas call for a national initiative to advance individualized medicine, including increased funding to the National Institutes of Health to support advances in precision medicine, is an important step, Dr. Weinshilboum says. Other moves that would help include: Adding bioinformatics to medical school and graduate school requirements to give physicians and other health care providers the tools they need to use genomic material. Updating and expanding government regulations to keep up with the growth of genomic technologies and potential treatments, including providing alternative tracks for the development and use of medications for small subsets of patients. Revising insurance guidelines to support genomic-based therapies. Standardizing biobank activities, using the same terms and templates so biobanks are more universally useful. Creating annotated, safe data repositories where all institutions can pool data and benefit from shared data while protecting patient privacy. Developing a next generation of electronic medical records that can securely store genomic data or easily interact with secure genomic data storage warehouses to facilitate incorporation of genomics into routine medical care. Using genomics to identify drugs that could be used as specialized cancer treatments. Improving incentives for researchers to collaborate and work in teams. Creating a national clearinghouse to match patients with genomic clinical trials. Bringing together federal and state regulators to develop a clear pathway toward the approval of next generation-based sequencing tests.

What are some precision medicine terms that people might start hearing more frequently from physicians, researchers and policymakers?

Whole-exome sequencing, also known as exome capture: A laboratory process that determines, all at once, the entire unique sequence of a persons exome. The exome consists of all of the protein coding genes in a persons DNA. These genes, which contain the instructions for how a cell behaves, account for an estimated 1 to 2 percent of DNA. Whole-genome sequencing: A laboratory process that determines, all at once, the entire unique DNA sequence of a persons genome. There about 6 billion letters in every human genome; everyone is unique. Genetic variants: Each of us is about 99.9 percent the same, genetically speaking. Even so, that 0.1 percent adds up to about 3 million individual genomic variants that differ between any two people. A major challenge in individualized medicine is finding the handful of variants that may lie behind a persons cancer, diabetes, or Alzheimers disease, for example. Bioinformatics: A research field that focuses on the interpretation of genomic data and seeks to build sophisticated systems that help scientists and physicians quickly locate variants that play roles in diseases. This is a rapidly growing area: Scientists and physicians can now generate data much more quickly than they are able to interpret it. Next Generation Sequencing: Also known as high-throughput sequencing, next generation sequencing describes several new DNA sequencing technologies that allow scientists and physicians to decode and catalog large numbers of genomic sequences in a rapid and cost-effective manner.

For a longer glossary of individualized medicine terms, see the Mayo Clinic Center for Individualized Medicine.

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Precision Medicine: Mayo Clinic Expert Describes Next Steps to Help More Patients Benefit

Medical geneticists specialize in diagnosing and treating genetic disorders, which include rare conditions often detected during newborn screening. These disorders may affect many parts of the body, including metabolism (how the body breaks down sugar and fats), connective tissue, brain functions, and the autoimmune and central nervous systems. Many causes may be at play, including family history, changes in genes and exposures to toxins (such as alcohol) during pregnancy.

Our expert geneticists have specialized training and are highly skilled at identifying these often difficult-to-diagnose and unusual conditions using advanced testing methods. Techniques such as DNA sequencing, whole genome studies, biochemical assays and chromosomal analysis allow us to pinpoint problems with specific genes. We look for specific gene mutations or the products of mutated genes tied to known genetic disorders. We also study newly identified mutations not yet linked to an identified condition.

We manage some of the most complicated patients known to medicine, including those with Glycogen Storage diseases. We work closely with you on treatment regimens and participate in your care with other pediatric and adult specialists, including nutritionists, cardiologists, neurologists, oncologists, surgeons, and speech and occupational therapists.

Our biochemical geneticists use unique and individualized diets to treat inborn errors of metabolism (disorders in which the body cannot properly turn food into energy). Infusions and advanced biologics provide specialized proteins or other nutrients to replace what is missing. The successful use of these therapies improves the health of our patients and is likely to expand to treat other conditions.

While many genetic disorders are apparent during pregnancy or shortly after birth, others may not develop until later in life, such as Marfan syndrome, or familial cancers including breast cancer. Our Indiana Familial Cancer Clinic offers evaluation and counseling for many cancers designed to assist you, your physician and your oncologist in managing your life with a hereditary cancer. Our geneticists and genetic counselors will assist in the determination of the risk of cancer, coordinate genetic testing, and offer advanced prevention and treatment options to help you maintain your health.

Our genetic counselors help families take steps to prevent inherited conditions when possible and prepare for the care of a child with an inherited condition. We work closely with families to better understand what a specific condition means for you and your children. We strive to answer all of your questions as completely as possible and connect you with the resources you need.

Though most genetic disorders have no cure, at Indiana University Health we collaborate with a variety of physicians to manage your condition and offer the most advanced treatment options. We use a multidisciplinary approach to meet your individual needs and support you throughout the diagnosis and treatment process, and your lifetime.

Select a Medical Genetics condition below to access information from our Health Library as well as how IU Health can help.

Through our partnership with Indiana University School of Medicine, our geneticists stay on the forefront of medicine by conducting research and clinical trials into genetic disorders. Our experts are studying the role genes play in conditions such as chromosomal abnormalities, familial cancers and neurodegenerative disorders and exploring new treatments through research and clinical trials in gene therapy.

We also educate the next generation of geneticists through masters, doctorate and medical doctorate education programs. These students will become genetic counselors, researchers and physicians who will continue to advance the study of genes and gene products and find new ways to diagnose and treat genetics disorders.

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Medical Genetics | IU Health

NEW DELHI: A global team of about 300 scientists studied over 30,000 brain scans of people from 33 countries and found that eight common genetic mutations are behind the aging of brain. This was the largest collaborative study of the brain to date and its findings could lead to targeted therapies and interventions for Alzheimer's disease, autism and other neurological conditions.

The study known as the Enhancing Neuro Imaging Genetics through Meta Analysis (ENIGMA) Network was led by researchers from the Keck School of Medicine of the University of Southern California (USC) and involved 190 institutions. The findings are published on Jan 21 in Nature. This is the first high-profile study since the National Institutes of Health (NIH) of the US launched its Big Data to Knowledge (BD2K) centers of excellence in 2014.

"ENIGMA's scientists screen brain scans and genomes worldwide for factors that help or harm the brainthis crowd-sourcing and sheer wealth of data gives us the power to crack the brain's genetic code," said Paul Thompson, professor at Keck School of Medicine and principal investigator of ENIGMA. "Our global team discovered eight genes that may erode or boost brain tissue in people worldwide. Any change in those genes appears to alter your mental bank account or brain reserve by 2 or 3 percent. The discovery will guide research into more personalized medical treatments for Alzheimer's, autism, depression and other disorders."

The study could help identify people who would most benefit from new drugs designed to save brain cells, but more research is necessary to determine if the genetic mutations are implicated in disease.

The ENIGMA researchers screened millions of "spelling differences" in the genetic code to see which ones affected the size of key parts of the brain in magnetic resonance images (MRIs) from 30,717 individuals. The MRI analysis focused on genetic data from seven regions of the brain that coordinate movement, learning, memory and motivation. The group identified eight genetic variants associated with decreased brain volume, several found in over one-fifth of the world's population. People who carry one of those eight mutations had, on average, smaller brain regions than brains without a mutation but of comparable age; some of the genes are implicated in cancer and mental illness.

In October 2014, the NIH invested nearly $32 million in its Big Data Initiative, creating 12 research hubs across the United States to improve the utility of biomedical data. USC's two BD2K centers of excellence, including ENIGMA, were awarded a total of $23 million over four years.

"The ENIGMA Center's work uses vast datasets as engines of biomedical discovery; it shows how each individual's genetic blueprint shapes the human brain," said Philip Bourne, Ph.D., associate director for data science at the NIH. "This 'Big Data' alliance shows what the NIH Big Data to Knowledge (BD2K) Program envisions achieving with our 12 Centers of Excellence for Big Data Computing."

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New study finds 8 genetic 'errors' that cause aging of brain

The endeavor known as precision medicine, which Obama singled out in his State of the Union Address, may sound futuristic, but its been around long enough for people to have screwed it up, and badly. One of the worst medical scandals this century started with cancer researchers at Duke promising something that sounded a little too good to be true and ended with retracted papers, dead patients and lawsuits.

But precision medicine is obviously moving forward. To learn more about it, and what lessons the past has to offer, I caught up with Keith Baggerly, whose dogged investigations uncovered the problem with the Duke project. Baggerly is a professor in the Department of Bioinformatics and Computational Biology and Division of Quantitative Sciences at UT MD Anderson Cancer Center. (He is also a witness in a pending lawsuit filed by patients and their families.)

Though precision medicine has different meanings, medical researchers tend to use that term or personalized medicine to refer to the use of individual DNA differences in tailoring treatments to patients. The strategy is being driven by advances in the ability to quickly and cheaply read the sequences of code characters in DNA and by the growing use of big data to find patterns. As described in this Philadelphia Inquirer story, a number of big data cancer initiatives are gathering momentum.

The dream of precision medicine has been particularly tantalizing for cancer treatment, since cancer cells are just ordinary cells with broken DNA mutations that change the cells instructions and cause them to run amok.

And so, in 2006, cancer researchers around the word took notice when a team led by Dr. Anil Potti at Duke claimed in the prestigious journal Nature Medicine that theyd created a highly complex mathematical system that could assess a given patients tumor and determine from its genetic make-up exactly which drugs would give that patient the best odds of survival. While investigations have revealed fraud on the part of Anil Potti, many other people made mistakes in ignoring whistle blowers and allowing the technique to be used on cancer patients in a clinical trial.

While some avenues of precision medicine could lead to new, prohibitively expensive drugs used for rare subsets of patient, the Duke technique promised to chart the best course among existing treatments said Baggerly.

It would be based on the DNA in individual patients tumors. And it didnt just apply to one kind of cancer but to cancers across the board. Instead of telling a patient there was a 70% chance a drug would work to kill her tumor, he said, they could find out ahead of time if she was in the other 30% and prescribe an alternative course of treatment.

Doctors were excited and thought if the system worked, they owed it to their own patients to adopt a form of it, he said. Several groups asked Baggerly to look into it. One danger with the approach, he said, was that it was impossible to know how the technique worked. The data were so big they were measuring thousands of things per patient and there was this perception that the analysis of such data sets would be complex, he said. In most medical tests, theres some understanding of how they work. Thats true in some of the early advances in precision medicine. In some cases of melanoma, for example, theres a break in a particular gene called BRAF, and drugs that target cells with that broken gene. Theres a mechanistic understanding of how it all works.

But with the Duke project, he said, nobody has a good intuition of what 50 or 60 things are doing at once. And so there was no way for intuition to tell anyone whether it worked at all. When Baggerly started to re-analyze how the Duke researchers created the system in the first place, it didnt work. Was he using the system wrong or was there something wrong with the system?

As he investigated further, he found egregious errors that should have prevented it from working. The team had relied on cancer cell samples that had various degrees of resistance to an array of drugs. Those had been mislabeled. Some were reversed, so that the cells that were most resistant were labelled as the least.

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Investigator Offers Lessons From Precision Medicine's Cancer Debacle

In his hour-long State of the Union address Tuesday night, President Obama spent a few seconds announcing a "Precision Medicine Initiative," but did little to explain what he has in mind. Background materials distributed by the White House show that Obama wants to invest in this "innovative field that provides healthcare professionals with tools, knowledge and treatments to tailor care to a person's unique characteristics--such as their genetic makeup."

Here's a primer on "precision medicine," a term you'll doubtless hear more about in years to come.

What is precision medicine?

Clinically, experts don't even agree on a single term for it. But "individualized," "personalized," and "precision," medicine are all used to convey the same idea, according to Gianrico Farrugia, former director of the Mayo Clinic's Center for Individualized Medicine: "rather than treating a person as [part of] a group, treat the person as an individual, based on [his or her] own genetic material, to enable us to provide individualized, personalized and precise care."

On a grander scale, said Keith Yamamoto, vice-chancellor for research at UC San Francisco, precision medicine envisions collecting enormous amounts of information -- not just from humans, but from other species and from basic science research -- and crunching that data to identify ways to diagnose and treat individuals.

What does that mean for me, in a practical sense?

Let's say you have cancer. By analyzing the makeup of a tumor, doctors may be able to better choose which drug to use, rather than employing a hit-and-miss approach based on knowledge of your form of cancer. The use of Tamoxifen for one form of breast cancer is a good example. And they can track the evolution of the tumor over time, to determine whether you need a different drug. If you need medication for another kind of illness, analyzing part of your genome might allow physicians to avoid ineffective or even dangerous drugs that interact poorly with your personal makeup.

All of this followed the completion of the Human Genome Project in 2003. As my colleague Brady Dennis wrote last year: "For reasons scientific and economic, one-size-fits-all blockbuster drugs are giving way to treatments tailored to individuals genetic makeups and aimed at narrow subsets of broader diseases."

Other possible applications: alternatives to opioids for pain relief, drugs for specific psychological illnesses, a drug for a small sliver of the people who suffer from cystic fibrosis.

What if I'm healthy? Can precision medicine do anything for me?

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What is President Obamas precision medicine plan, and how might it help you?

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Newswise NEW YORK, January 21, 2015 New York metropolitan area Ashkenazi Jewish women and men aged 25 and older can now opt to undergo testing for the three common Ashkenazi Jewish BRCA founder mutations at a fraction of the commercial price, thanks to a new, philanthropy-based initiative from the Program for Jewish Genetic Health (PJGH), a not-for-profit organization affiliated with Yeshiva University and Albert Einstein College of Medicine (Einstein), in conjunction with Montefiore Health System (Montefiore). This initiative, the first of its kind in the United States, makes this testing available to all Ashkenazi Jewish individuals, regardless of their BRCA-related cancer histories or their insurance/financial situations, both of which have been barriers to date.

Most insurance companies currently require people to already have had family members with cancer if they want to be covered for BRCA genetic testing, said Susan Klugman, MD, medical director for the Program for Jewish Genetic Health, director of the division of reproductive genetics at Montefiore, and professor of clinical obstetrics & gynecology and women's health at Einstein. We at the Program for Jewish Genetic Health are not willing to wait for that.

Background Approximately 1 in 40 individuals of Ashkenazi Jewish descent carries one of three founder mutations in the BRCA1 or BRCA2 genes, a carrier rate tenfold higher than that of the general population. Females carrying a BRCA mutation face a significantly higher risk of developing breast and ovarian cancer in their lifetime, while male BRCA mutation carriers are at higher risk of developing prostate and breast cancer, among other cancers. BRCA carriers also have a 50 percent chance of passing the altered gene on to each of their offspring, who in turn will have an increased susceptibility for these cancer types. Individuals who find out that they are BRCA carriers through genetic testing have cancer risk-reducing and reproductive options.

Today, most health insurance policies cover BRCA testing only for those who are considered at high risk to have a BRCA mutation those with a significant personal or family history of these cancers. However, individuals who are at low risk to have a BRCA mutation those who do not have a significant personal or family history of cancer along with those with no health insurance, are faced with steep out-of-pocket costs. Testing for the three common Ashkenazi Jewish BRCA founder mutations via the traditional, commercial-based process can cost more than $600 for these low risk and uninsured individuals. The Program for Jewish Genetic Health is now providing testing for $100, along with complimentary pre-test genetic counseling courtesy of Montefiore.

According to the PJGH, one of the primary goals of the new initiative, that also includes a research component, is to identify new BRCA mutation carriers in this low-risk group who otherwise would have gone undetected. Recent studies from Israel have reaffirmed that the 1 In 40 carrier rate in Ashkenazi Jews also applies to these low risk individuals, and suggest that the risks to develop cancer in BRCA carriers coming from both low risk and high risk families may be more equivalent than originally thought.

The Process Interested participants aged 25 and older who self-identify as Ashkenazi Jewish will begin by visiting the PJGHs BRCAcommunity Study website (http://brcacommunitystudy.einstein.yu.edu/), where they can learn more about BRCA and the initiative, and then be directed to complete a detailed demographic form and personal/family history questionnaire. The PJGHs genetic counselors will analyze all responses and assign each participant into one of two groups. Those who meet National Comprehensive Cancer Network (NCCN) testing criteria (high risk) will be offered comprehensive genetic counseling and BRCA genetic testing through standard-of-care insurance-based processes. These individuals will be scheduled for appointments at the PJGHs clinical affiliate, the Division of Reproductive Genetics at Montefiore, or directed to the National Society of Genetic Counselors (NSGC) website to identify other available genetic counselors.

Individuals not meeting NCCN testing criteria will be considered low risk and invited for a group genetic counseling session which will be provided free-of-charge. After the session, those who would like to proceed with testing will submit a saliva sample that will be tested for the three common Ashkenazi Jewish BRCA gene mutations at the subsidized rate; this rate is thanks in part to a generous grant from the Foundation for Medical Evaluation and Early Detection.

When test results are available, all participants in either group who are found to be carriers will be scheduled for an in-person genetic counseling appointment to review their results. These individuals will be counseled about screening and risk-reducing and reproductive options, advised to inform their at-risk relatives about their genetic test results, and directed to support resources, in part through the network of the Program for Jewish Genetic Health. High risk participants who are not found to be carriers of the three common BRCA mutations will be counseled appropriately, including given the option to undergo more comprehensive genetic testing.

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New York's Program for Jewish Genetic Health and Montefiore Health System Partner to Offer Subsidized Genetic Testing ...

Global research alliance ENIGMA finds 8 common gene mutations leading to brain age in over 30,000 brain scans that may some day unlock mysteries of Alzheimer's, autism and other neurological disorders

LOS ANGELES -- In the largest collaborative study of the brain to date, researchers from the Keck School of Medicine of the University of Southern California (USC) led a global consortium of 190 institutions to identify eight common genetic mutations that appear to age the brain an average of three years. The discovery could lead to targeted therapies and interventions for Alzheimer's disease, autism and other neurological conditions.

An international team of roughly 300 scientists known as the Enhancing Neuro Imaging Genetics through Meta Analysis (ENIGMA) Network pooled brain scans and genetic data worldwide to pinpoint genes that enhance or break down key brain regions in people from 33 countries. This is the first high-profile study since the National Institutes of Health (NIH) launched its Big Data to Knowledge (BD2K) centers of excellence in 2014. The research was published Wednesday, Jan. 21, in the peer-reviewed journal Nature.

"ENIGMA's scientists screen brain scans and genomes worldwide for factors that help or harm the brain -- this crowd-sourcing and sheer wealth of data gives us the power to crack the brain's genetic code," said Paul Thompson, Ph.D., Keck School of Medicine of USC professor and principal investigator of ENIGMA. "Our global team discovered eight genes that may erode or boost brain tissue in people worldwide. Any change in those genes appears to alter your mental bank account or brain reserve by 2 or 3 percent. The discovery will guide research into more personalized medical treatments for Alzheimer's, autism, depression and other disorders."

The study could help identify people who would most benefit from new drugs designed to save brain cells, but more research is necessary to determine if the genetic mutations are implicated in disease.

The ENIGMA researchers screened millions of "spelling differences" in the genetic code to see which ones affected the size of key parts of the brain in magnetic resonance images (MRIs) from 30,717 individuals. The MRI analysis focused on genetic data from seven regions of the brain that coordinate movement, learning, memory and motivation. The group identified eight genetic variants associated with decreased brain volume, several found in over one-fifth of the world's population. People who carry one of those eight mutations had, on average, smaller brain regions than brains without a mutation but of comparable age; some of the genes are implicated in cancer and mental illness.

In October 2014, the NIH invested nearly $32 million in its Big Data Initiative, creating 12 research hubs across the United States to improve the utility of biomedical data. USC's two BD2K centers of excellence, including ENIGMA, were awarded a total of $23 million over four years.

"The ENIGMA Center's work uses vast datasets as engines of biomedical discovery; it shows how each individual's genetic blueprint shapes the human brain," said Philip Bourne, Ph.D., associate director for data science at the NIH. "This 'Big Data' alliance shows what the NIH Big Data to Knowledge (BD2K) Program envisions achieving with our 12 Centers of Excellence for Big Data Computing."

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Other USC co-authors include Derrek P. Hibar, Neda Jahanshad and Arthur Toga. ENIGMA was supported in part by a Consortium grant (U54 EB020403) from the NIH BD2K Initiative, supported by a cross-NIH partnership, and by public and private agencies worldwide.

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USC neuroscientists lead global ENIGMA consortium to crack brain's genetic code