Technology Assessment

Update on Mapping the Landscape of Genetic Tests for Non-Cancer Diseases/Conditions


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Over the past decade, research efforts such as the Human Genome Project and the International Haplotype Map (HapMap) project, coupled with concomitant advances in genomic technologies and bioinformatics, have contributed to an explosive growth in the field of human genomics. These developments have resulted in cheaper and more efficient genomic technologies, and they, along with other innovations in medical diagnostics and therapeutics, will soon play a substantial role in everyday clinical practice. Genetic tests can be used for a variety of purposes including screening, diagnosis, disease monitoring, risk stratification, and therapeutic management. In addition, genetic tests can be helpful in predicting outcomes and can be used as clinical decisionmaking tools. As new assays become available for clinical use, it is crucial for patients, clinicians, and payers to be well informed as to the breadth of genetic testing available and the appropriate contexts in which they should be used.

To that end, the Coverage and Analysis Group at the Centers for Medicare and Medicaid Services (CMS) requested the Technology Assessment Program (TAP) at the Agency for Healthcare Research and Quality (AHRQ) map the landscape of genetic tests available for non-cancer diseases/conditions. AHRQ assigned this project to the Tufts Medical Center Evidence-based Practice Center (Contract Number: HHSA 290 2007 10055 I). The current report presents an updated list of genetic tests for non-cancer conditions, adding those identified since the 2007 and 2010 horizon scan reports on Genetic Testing for Non-Cancer Conditions sponsored by the CMS and funded through the AHRQ. A report concerning genetic tests for cancer conditions is forthcoming in 2013. The goal was to identify genetic tests for non-cancer conditions that are already in clinical practice and are applicable to the Medicare population. Eligible tests were reviewed and summarized for inclusion in an electronic database.

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