Translating genomic research on thrombophilia at CDC Office of Public Health Genomics

The Office of Public Health Genomics (OPHG) at CDC promotes the integration of genomics in research, practice and policy, and translational research that spans the continuum from gene discovery through population health impact. Within the field of blood disorders, OPHG has supported several projects that address genetic testing for factor V Leiden and prothrombin G20210A mutations. The international HuGENet collaboration, which was established by OPHG, has developed a relevant case-study on factor V Leiden and venous thrombosis. An evidence-based report on venous thromboembolism, including assessment of factor V Leiden and prothrombin G20210A genetic testing, was developed and released through the ACCE model project. In 2009, an OPHG supported evidence-based review on genetic testing for factor V Leiden and prothrombin G20210A was published by investigators at Johns Hopkins University AHRQ Evidence-based Practice Center. This report is intended to serve as the basis for development of an evidence-based recommendation statement by the independent EGAPP Working Group. The emerging GAPPNet enterprise should facilitate the identification of relevant gaps in knowledge through support of additional, and potentially broader, translational research on blood disorders.