EGRP News Flash - August 17, 2009

Workshop Recommendations to Guide Personal Genomics Research Published

Today consumers can obtain personal genome profiles on their own, yet the research basis for using them in risk assessment, health promotion, and disease prevention is not well developed. Concern about the increasing availability of such tests prompted the National Institutes of Health (NIH) and Centers for Disease Control and Prevention (CDC) to sponsor a workshop in December 2008 to develop targeted research recommendations to build an evidence base for their clinical validity and utility. The workshop recommendations now have been published in the August issue of Genetics in Medicine.

"The clinical validity and utility of personal genomics is a moving target," write the authors, "with rapidly developing discoveries but little translational research to close the gap between discoveries and health impact."

Recommendations are presented in five areas:

  1. developing and applying scientific standards for assessing personal genomic tests;
  2. developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility;
  3. enhancing credible knowledge synthesis and information dissemination to clinicians and consumers;
  4. inking scientific findings to evidence-based recommendations for use of personal genomics; and
  5. assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation.

In conclusion, the authors call for a rigorous multidisciplinary research agenda to fulfill the promise of personal genomics.

These recommendations were developed at a multidisciplinary workshop that brought together representatives from industry; the clinical, epidemiology, genetics, communication, social, and behavioral sciences; and advocacy groups.

The NIH sponsors of the workshop were NCI's Division of Cancer Control and Population Sciences (DCCPS), National Human Genome Research Institute (NHGRI), National Heart, Lung and Blood Institute (NHLBI); and the Office of Behavioral and Social Sciences Research (OBSSR).

Co-authors of the paper include Muin J. Khoury, M.D., Ph.D., of CDC and on detail to NCI's DCCPS as a senior consultant on Public Health Genomics; EGRP's Sheri D. Schully, Ph.D., Program Director, Host Susceptibility Factors Branch; and Robert T. Croyle, Ph.D., Director, DCCPS. Drs. Muin and Schully organized the workshop.

The full text of the article can be viewed on CDC's website at Access the 2008 meeting agenda, presentations, and participant list.

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