August 14, 2009
By a GenomeWeb staff reporter
NEW YORK (GenomeWeb News) – A government-led panel has issued a list of recommendations related to the clinical utility and clinical validity of personal genomic tests, enhancing knowledge about these tests, and developing standards for these tests, according to a report in the journal Genetics in Medicine.
The report is the product of a December 2008 workshop led by the National Institutes of Health and the Centers for Disease Control and Prevention, and it included a number of other stakeholders in government, academia, and the business world.
The working group developed five broad recommendations for ways to “enhance the foundation” for using personal genomics in order to improve health.
It said that efforts to develop and implement standards for personal genomics should be expanded to include transparent criteria for analytic standards, clinical standards on the selection of genetic variants, data interpretation, and the calibration and evaluation of risk distributions.
A multidisciplinary research agenda also should be implemented, the group advised, that could help to develop the personal genomics field. Beyond biological studies that could point to therapeutic and preventive interventions, this research could include epidemiologic studies for risk characterization, particularly those on gene-gene and gene-environment interactions. Also needed are clinical and population studies to assess the effectiveness of genetic information for consumers and providers, as well as health services research that assesses the uptake of evidence-based practice into routine care, and outcomes research, the group said.
The working group also said that public health surveillance and the assessment of cost-effectiveness, as well as current federal genomic initiatives in translational research should be enhanced.
Knowledge should be synthesized based on standardized formats and evidence-based processes in order to summarize and update information on genetic associations and to document their clinical validity and clinical utility, the group advised. They also said that this information should be translated in an accessible fashion and should be spread among consumers, providers, and policy makers.
The evidence threshold for using personal genomic information in clinical practice and disease prevention should be considered by independent panels, according to the group.
Setting the bar for evidence too low for clinical utility and clinical validity may allow a diffusion of genomic discoveries into practice, but there may not be adequate information on their effectiveness, the group said. But, placing the bar for evidence too high could result in tests with high validity and utility but with lower financial incentive for innovation by developers.
For these reasons, the group noted, “extra caution” is needed when developing how much evidence is necessary for clinical utility and validity.