Genetic Testing Overview

At the request of the Coverage and Analysis Group at CMS, the Agency for Healthcare Research and Quality does an annual scan on the status of genetic testing.  One year AHRQ looks at tests related to cancer and the next year tests for diseases other than cancer.  The focus is on tests likely to be used in the Medicare population.  CMS’ coverage unit uses the reports to help it anticipate potential requests for coverage and reimbursement from the makers and suppliers of these tests.  The Tufts Medical Center Evidence-based Practice Center actually does the research.  (AHRQ Report)

The ongoing research has created a very comprehensive database of available genetic tests and allows for spotting of trends.  The report lists several categories of tests by use:  prevention, to detect inherited susceptibility to disease; diagnostic–testing to confirm or aid in diagnosis what disease a patient has; prognostic–information which can determine the likely course or outcome of the disease; and monitoring, or use of the test to follow disease response to treatment.  The searches to find new tests are primarily carried out by using Google or other search engines or examining the websites or known makers of genetic tests.

For 2009 the scan found 16 new genetic tests.  Eight were related to the association between certain genotypes and disease and eight were for pharmacogenomic applications.  Most of these tests have not been the subject of extensive clinical trial testing.  The AHRQ reports are a useful method to track advances in personalized medicine.  Even more interesting will be to see the evolving coverage and reimbursement policies of CMS, especially in an era of health reform.