NEW YORK (GenomeWeb News) – A new report released yesterday by the Agency for Healthcare Research and Quality found insufficient evidence that genetic tests for two gene mutations help prevent deep-vein thrombosis, a condition that includes blood clots in the leg and pelvis and can lead to death.
Researchers at the Johns Hopkins Evidence-based Practice Center were unable to find any studies that directly addressed the effect of genetic tests for two mutations, including Factor V Leiden and prothrombin G20210A mutations, AHRQ said.
The authors of the paper, which is published in today's issue of the Journal of the American Medical Association, did find information indicating that keeping patients who have a genetic tendency to develop blood clots on blood-thinning drugs reduces the chance of a future clot.
The report was requested and supported by the Office of Public Health Genomics at the Centers for Disease Control and Prevention. The information will be used by the Evaluation of Genomic Applications in Practice and Prevention Working Group, which is part of the OPHG, to make recommendations on the validity and utility of genetic tests for FVL and prothrombin G20210A.
The report's authors called for randomized trials with large sample sizes and long-term follow up, and other research efforts to determine if changing the practices of providers based on genetic results improved patient outcomes.
"While genetic testing shows great promise to improve treatment and prevent disease, this report clearly shows that we need more research and evidence to achieve its full potential," AHRQ Director Carolyn Clancy, said in a statement. "But people can help reduce their likelihood of developing a blood clot by talking with their doctor about precautions."
The authors also looked at evidence for the accuracy of the testing methods used to identify the genetic mutations, and found that the tests have "excellent analytic validity" and that "nearly all laboratories report accurate results."