Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health Workshop Summary (2009) / Chapter Skim
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3 Creating Evidence Systems
3 Creating Evidence Systems
Pages 13-32
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From page 13... ...
Davis noted that over the past 10 years, there has been an emerging consensus on what the important issues are related to genetic testing and pharmacogenomics. One key issue is the concept of clinical utility.
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From page 14... ...
Historically, however, genetic tests have been held to a less stringent regulatory standard than pharmacogenetic drugs, which require evidence of improved clinical outcomes to receive Food and Drug Administration approval. Davis stressed that the default for gathering evidence on gene-based diagnostic tests and therapeutics should be a randomized controlled trial (RCT)
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From page 15... ...
HMORN has formed joint informal collaborations with the Pharmacogenomic Research Network (PGRN) , which is funded through the National Institute of General Medical Sciences, and with the Agency for Healthcare Research and Quality (AHRQ)
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From page 16... ...
Davis concluded by reiterating that genetic tests, similar to pharmaceutical products, should be required to show proof of clinical utility and improved outcomes as a condition for licensure. That, he said, is "going to require a fundamental sea change in the way we think about genetic tests."
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From page 17... ...
Within clinical science there is a cooperative studies program that launches large-scale, multisite trials within the VA system. The Genomic Medicine Program In 2006, the Secretary for the VA formally launched the Genomic Medicine Program to examine the potential of emerging genomic technologies to optimize care for veterans.
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From page 18... ...
Infrastructure Development After assessing veterans' willingness to participate, the next steps were to determine what was available within the VA system; if the program should build in-house capability within the VA, or leverage infrastructure available at the affiliated universities or through contracts with industry, or some of each; and what the research agenda should be. As described above, the Cooperative Studies Program conducts large multisite clinical trials within the VA system, providing an infrastructure on which the Genomic Medicine Program could be built.
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From page 19... ...
certified research genomics laboratory conducting large-scale genotyping. There is also a newly established Genomics Research Core at the VA medical center in San Antonio.
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From page 20... ...
vector, editable Genomics research projects include: a genome-wide associate study of ALS, using the VA registry containing more than 2,000 ALS patients; a study of the genetics of posttraumatic stress disorder (PTSD) and co-morbidities, including 5,000 returning Operation Iraqi Freedom and Operation Enduring Freedom veterans with PTSD; and a serious mental illness cohort, with plans under review to recruit 9,000 patients with schizophrenia and 9,000 with bipolar disorder and a 20,000-reference cohort.
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From page 21... ...
Several education initiatives are under way, including working with the National Coalition for Health Professional Education in Genetics to implement a web-based tool to provide continuing medical education accreditation and point-of-care materials for clinicians and other health professionals. The VA also interacts, discusses, and actively participates with various other genetics/genomics-focused organizations, including NHGRI, PGRN, the American Health Information Community, the federal working group on family history tool development, and the Institute of Medicine (IOM)
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From page 22... ...
The recently developed research mission statement calls for "excellence in clinical and translational research resulting in improved clinical care within the Intermountain Healthcare system." The vision for research at Intermountain is to improve patient care and well-being for many; encourage expertise; effectively communicate accomplishments; be financially responsible; and ensure that research is effectively resourced, optimally efficient, and complies with all applicable rules and regulations. Research priorities include retaining focus in areas of traditional strengths (e.g., cardiovascular, pulmonary/critical care, and informatics)
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From page 23... ...
Although there are currently only three staff at the Clinical Genetics Institute, their range of expertise spans genetics, health care delivery, quality improvement, informatics, and technology assessment. There is a clear internal vision of program goals, and strong support from some individuals in the larger system.
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From page 24... ...
Intermountain also has a partnership with researchers at Harvard to study electronic communication of genetic test results. Intermountain is also conducting health services research, looking at, for example, patient satisfaction with traditional clinical genetic services, identification of genetic diseases using the Clinical Data Repository, and implementation of a tumor-based screening for Lynch syndrome.
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From page 25... ...
The recent Bush administration had an interest in personalized medicine and the implementation of electronic health records, and this focus appears likely to continue under the Obama administration. Funds are now available through the Centers for Disease Control and Prevention National Office of Public Health Genomics and AHRQ to support health services research that aligns with the Intermountain strategy.
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From page 26... ...
A second sea change involves IRBs, which, much like clinical data systems, are a generation behind. IRBs still hold the opinion that patients don't want personalized medicine, that it is very risky, and that people are primarily concerned about privacy.
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From page 27... ...
Generally, however, "coverage with evidence development" has only been applied for major, very expensive technologies. A participant commented that the diagnostic tests used in cardiovascular medicine were adopted decades ago and became the standard of care, and now it is very difficult to study them to see whether they really have an impact on patient outcomes.
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From page 28... ...
The focus of the workshop is how to gather data, but another challenge is how to bridge genomics and personalized health data with public health and population health information. Otherwise, there could be a potentially costly one-on-one clinical approach that deals with individual risks, which may only be modest on a population basis.
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From page 29... ...
For those who are interested, Intermountain's Clinical Decision Support System provides the ability to drill down through Intermountain's clinical guidelines, national clinical guidelines, and the basic literature, simply by successive mouse clicks within the electronic health record. A participant noted that there may be upcoming revisions to the medical boards, combining parts one and two of the boards into a single exam encompassing both basic and clinical science.
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From page 30... ...
Reimbursement follows policies, not necessarily evidence. Barriers created by reimbursement practices are going to have a tremendous impact in terms of moving genetic tests into the clinic, especially if a test is ultimately defined as preventive.
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From page 31... ...
, which is being run out of University of Utah Biomedical Informatics, is examining ways to combine University of Utah health care data, Intermountain Healthcare data, and Salt Lake VA health care data into a larger dataset. The project first needs to address issues such as rules that govern use, deidentification, and security.
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From page 32... ...
32 SYSTEMS FOR RESEARCH AND EVALUATION Muralidhar said that at the VA, the GenISIS and VINCI programs are working to electronically capture data from case report forms and various other handwritten materials. They are also considering ways to give researchers Internet-based access to the VA data.
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