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Data Sharing Pivotal to Personalized Medicine

Challenges associated with sharing and synthesizing massive amounts healthcare data to improve patient outcomes emerged as a key theme in a   discussion last week on the future of personalized medicine.

The event at the Bipartisan Policy Center in Washington, D.C. urged doctors, policy experts and healthcare-technology leaders to explore ways to advance the field —informing those in attendance and online, as well as shaping a policy brief the center will issue this fall. Notable sound bites and other insights were shared in real-time on Twitter using #personalizedmedicine through a Dell initiative to expand the reach of the discussion to a worldwide virtual audience.

Better, cheaper healthcare

Significant advancements in personalized medicine, which includes genomics, is making it easier for practitioners to tailor medical treatments and preventive strategies to the characteristics of each patient — advancements that supporters say will improve care and reduce costs. Yet progress is being slowed by a number of factors, including the limited sharing of patient information.

Greater sharing would allow medical institutions that are creating patient databases — some with genomic information — to expand the size of the patient pool, thus making it more likely to identify and treat rare conditions, panelists said. It would also allow patients to personally store and share their data with different practitioners, increasing portability. The day that everyone will have every detail about their personal health on their smartphones didn’t sound that far off.

Mollie H. Ullman-Cullere, who structures genomic data in IT systems according to emerging standards, said the federal government is taking steps toward sharing more information with patients, but more effort is needed. She cited a rule change that will allow patients to obtain test results directly from labs.

“How government is addressing healthcare reform is through patient engagement and informing them as active consumers of healthcare,” she said. “Genetics has to be included in that.”

Big data for doctors

The other component of the data-accessibility issue is how medical researchers should go about building massive databases of patient records. The ultimate application is a big-data program that could analyze a patient’s data against similar patients and generate a course of action for the physician.

But with greater access comes privacy concerns, and a need to persuade policymakers and the public at large that the medical community can be trusted with storing and using patient data for the greater good, some panelists said. Data can help practitioners diagnose patients more accurately and quickly, and identify risk factors much earlier. Both capabilities would lower healthcare costs.

Edward Abrahams, president of the Personalized Medicine Coalition, said he’s noticed a vexing dichotomy that policymakers will need to address in order to boost the amount of information that patients share with medical databases.

“The tricky part is that the public wants control over information, but as patients they may think differently,” he said.

Source: Tech Page One

Researchers Agree that Alzheimer’s Test Results Could be Released to Research Participants

A leading group of Alzheimer’s researchers contends that, as biomarkers to detect signals of the disease improve at providing clinically meaningful information, researchers will need guidance on how to constructively disclose test results and track how disclosure impacts both patients and the data collected in research studies. A survey conducted by a group including experts from the Perelman School of Medicine at the University of Pennsylvania found that a majority of Alzheimer’s researchers supported disclosure of results to study participants. The study is published online in Neurology.

“While this is not a call to immediately tell subjects their biomarker results, it does show that the field is moving to a point where experts want to share valid and meaningful results with participants,” said co-senior author Jason Karlawish, MD, professor of Medicine and Medical Ethics and Health Policy. “As we gain more data on the predictive abilities of these measurements, we will need models and methods to effectively reveal results.”

The study surveyed 139 Alzheimer’s clinical trial leaders and coordinators from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) in April 2012, just before the U.S. Food and Drug Administration approved the amyloid-binding radiotracer known as Amyvid (florbetapir). 73 percent of respondents supported disclosing amyloid imaging results to study participants with mild cognitive impairment, whereas 58 percent supported giving amyloid imaging results to those with normal cognition.

Six themes emerged from the survey, regarding participant preferences and cognition levels, researchers’ requests to develop standardized counseling procedures, participant education, and standardization of data-gathering, and concerns regarding potential harms and benefits to participants, as well as the ways disclosure could impact study results.

Currently, ADNI has a policy to not disclose results to participants, but the survey showed a growing trend of experts who would favor revising this policy. In addition to finding amyloid imaging results valuable, Alzheimer’s experts also valued other biomarker data collected in ADNI, such as spinal fluid tests, PET imaging, and other psychometric tests, suggesting that if amyloid imaging results were allowed to be disclosed, it would likely lead to disclosure of other test results.

Study: Using AD biomarker research results for clinical care [Neurology] 

Source: EurekAlert!

Biomarker Predicts Heart Attack Risk Based on Response to Aspirin Therapy

Aspirin has been widely used for more than 50 years as a common, inexpensive blood thinner for patients with heart disease and stroke, but doctors have little understanding of how it works and why some people benefit and others don’t.

Now researchers at Duke Medicine have solved some of the mysteries related to the use of this century-old drug, and developed a blood-based test of gene activity that has been shown to accurately identify who will respond to the therapy.

The new gene expression profile not only measures the effectiveness of aspirin, but also serves as a strong predictor of patients who are at risk for heart attack, according to a study appearing July 3, 2013, in the online edition of the Journal of the American College of Cardiology.

“We recognized the concept of aspirin resistance among a population of patients who have cardiac events or stroke,” said senior author Geoffrey S. Ginsburg, M.D., PhD, director of genomic medicine at Duke’s Institute for Genome Sciences & Policy and executive director of the Center for Personalized Medicine. “We give the same dose to all patients, but maybe some patients need a larger dose of aspirin, or maybe they need to try a different therapy entirely. We need better tools to monitor patients and adjust their care accordingly, and the findings from our study move us in that direction.”

The Duke researchers enlisted three groups of participants – two of healthy volunteers and one comprised of patients with heart disease seen in outpatient cardiology practices.

The healthy volunteers were given a dosage of 325 mg of aspirin daily for up to a month; the heart disease patients had been prescribed a low dose of aspirin as part of their treatment. Blood was then analyzed for the impact of aspirin on RNA expression and the function of platelets, which are the blood cells involved in clotting.

The RNA microarray profiling after aspirin administration revealed a set of 60 co-expressed genes that the researchers call the “aspirin response signature,” which consistently correlated with an insufficient platelet response to aspirin therapy among the healthy subjects as well as the heart disease patients.

The researchers also examined the aspirin response signature in another group of patients who had undergone cardiac catheterizations. They found the signature was also effective in identifying those patients who eventually suffered a heart attack or died.

“The aspirin response signature can determine who is at risk for heart attack and death,” said Deepak Voora, M.D., assistant professor of medicine at Duke and lead author of the study. “There is something about the biology of platelets that determines how well we respond to aspirin and we can now capture that with a genomic signature in blood.”

Ginsburg said the research is progressing to recreate the findings in other populations, and to develop a standardized testing system that could one day move the analysis into daily practice.

“Nearly 60 million people take aspirin regularly to reduce their chances of heart attack and death, but it doesn’t work for everyone,” said Rochelle Long, Ph.D., of the National Institutes of Health’s National Institute of General Medical Sciences, which partly supported the study. “By monitoring gene activity patterns these investigators uncovered a ‘signature’ linked to inadequate responsiveness. This work may eventually lead to a simple blood test to identify those who do not benefit from aspirin, enabling them to seek other therapeutic options.”

In addition to Ginsburg and Voora, study authors include Derek Cyr; Joseph Lucas; Jen-Tsan Chi; Jennifer Dungan; Timothy A. McCaffrey; Richard Katz; L. Kristin Newby; William E. Kraus; Richard C. Becker; and Thomas L. Ortel.

The study received funding from the Duke Institute for Genome Sciences & Policy; the National Institutes of Health (T32HL007101 to DV); the National Center for Research Resources (UL1RR024128); the National Institutes of General Medical Sciences (RC1GM091083); the Centers for Disease Control and Prevention (5U01DD000014); and the David H. Murdock Research Institute.

Study: Aspirin Exposure Reveals Novel Genes Associated with Platelet Function and Cardiovascular Events

Source: Duke Medicine

Syapse Joins Free the Data! Initiative and Provides Software to Power Participant-centric Hereditary Gene Mutation Database

Syapse, the leader in software for bringing omics into routine medical use, announced that it has joined the Free the Data! initiative. This consortium of policy makers, advocacy organizations, individuals, academic centers, and industry aims to fill the public information gap caused by the lack of available genetic information for the BRCA1 and BRCA2 genes, and plans to expand to provide other types of genetic information in an open, searchable database.

Syapse will provide the software infrastructure for the Free the Data! initiative, enabling powerful data mining, visualization, and reporting. Participants will be able to visualize their own variations and clinical data in comparison to those already in the database, while clinicians will be able to utilize variant interpretation in medical interactions. Researchers, industry, and others can utilize Syapse data mining tools to interrogate the variants, interpretation, and evidence, along with clinical data submitted by participants. Participants will have full control over data sharing and privacy preferences of the data they contribute. The campaign shares all variants with ClinVar, the National Institutes of Health public database, unless the participant dictates otherwise.

“Despite national attention on the patentability of human genes, a ruling against gene patentability doesn’t immediately provide broad access to BRCA1 and BRCA2 variants or place them in a public database that will allow for better diagnosis and care,” said Sharon F. Terry, M.A., president and CEO of Genetic Alliance. “Syapse provides the best platform for integrating complex genomics and clinical data from disparate sources, and reporting it in a dynamic and relevant interface to participants and clinicians. We are excited to be using Syapse software to enable all individuals to access genetic mutations and their clinical interpretations in order to improve care.”

“Syapse is pleased to join Genetic Alliance, University of California San Francisco (UCSF), InVitae Corporation, and advocates in the Free the Data! initiative to crowdsource the interpretation of BRCA1 and BRCA2 variants,” said Jonathan Hirsch, Founder & President of Syapse. “Syapse is committed to the free and open interpretation of the genome, but interpreting the genome requires a larger evidence base than any one entity can develop. Pooling genetic and clinical data will rapidly advance medical knowledge of clinically relevant genetic mutations, leading to more effective diagnosis, treatment, and cures.”

Individuals who have received genetic testing and who are interested in participating are invited to go to the Free The Data! project web site at www.free-the-data.org, and follow the instructions to upload test results, set privacy and sharing settings, and answer a brief questionnaire.

Individuals may also send a scan or PDF of the test report form with the personal identifying information blocked to Genetic Alliance by email at freethedata@geneticalliance.org or by facsimile at 202.966.8553.

We encourage individuals, advocacy groups, research organizations, physicians, policy groups, professional societies and industry to join the cause. For more information, please visit free-the-data.org or contact: 202.966.5557 x201.

Source: Synapse

FDA Review Periods are Lengthening for Biomarker-Based IVD Tests, Announces Amplion Research

FDA review periods are lengthening for IVD tests that utilize molecular biomarkers, and at a faster rate than for IVDs overall, one of the key findings in a new report published this month by Amplion Research.

“Approval and Market Trends for Biomarker-Based IVD Tests (2003-2012),” is a new research report that draws on detailed analyses of every IVD test cleared or approved by the FDA over the last decade. The report can be found at http://www.amplion.com.

While the last decade has seen a boom in the discovery of new molecular biomarkers, the progression of those molecules into new diagnostic tests has been slow. Many factors impact this rate, and one key factor is the FDA review period for tests that enter the market as packaged tests.

“Our analysis uncovered significant variability in review periods, but the overall lengthening trend is clear,” said Adam Carroll, Ph.D., Science Director at Amplion Research. “Among the variables that influence review period length, the one with the biggest impact is the selection of the FDA committee conducting the review.” Review periods by committee are broken down in the report, as are other factors that could influence review periods, such as the number of targets in a test, and the number of predicate devices cited for a 510(k) test.

Along with the detailed review period analyses, the new report also includes an analysis of the markets for biomarker-based IVDs, including the overall market size, detailed breakdowns of the companies participating, and all mergers and acquisitions among companies that developed biomarker-based IVD tests over the last decade. Geographic breakdowns are also included for all key market data.

Also included in the report is an analysis of the kinds of molecules that are being utilized in new IVD tests, with a special emphasis on the release rates and paths to market for novel molecular targets.

“The report serves users in a variety of roles,” said John Audette, Business Director at Amplion Research. “Executives and directors in regulatory, product development, and marketing roles at diagnostics and therapeutics companies will clearly get significant value from this report. But so will professionals involved in technology transfer fields, as well as equity analysts that cover companies in the diagnostics industry.”

The heads of NIH and FDA jointly described new diagnostic tests as the keys to advancing personalized medicine. Because this report analyzes release rates for the most advanced new diagnostic tests, it provides direct measurement of progress in implementing personalized medicine. Analysts and policy makers interested in personalized medicine’s progress will get essential insights from this report.

Source: Business Wire