Clinical Genomics: Moving From Bench to Bedside

More than a decade after the successful mapping of the human genome, clinical genomics is starting to permeate important parts of patient care. Studies show that about 60% of primary care physicians (PCPs) have ordered a genetic test for breast cancer, colon cancer, sickle cell disease, or Huntington disease. Another 75% of PCPs have referred patients for genetic testing. So-called “personalized medicine” routinely guides therapy in HIV disease, and use of targeted anti-cancer drugs is rising. While 98% of physicians in a recent national poll agreed that genetic testing is useful, just 10% reported that they felt adequately informed about using it. Doctors need clarity on integrating genomics into routine practice. A Growing Challenge for Genetic Testing As of 2011, 76 drugs had documented biomarker information that is available to guide prescribing practices. Those biomarkers affected 18 therapeutic areas, from heart disease to depression. Meanwhile, a major update of Current Procedural Terminology billing codes in 2012 is expected to include more than 100 genetic procedures, making these tests easy to order. Unfortunately, less than 3% of published research articles on genomics that were released between 2002 and 2006 included information on translating research into practice. Just 1.8% of cancer genetics grants in 2007 that were issued by the National Cancer Institute went to translational research. Furthermore, just 0.6% of publications on the topic dealt with translational issues. Testing for BRCA1/2 genetic mutations illustrates the dilemma practicing clinicians face. Ashkenazi Jews, for example, are at much higher risk for BRCA1/2 genetic mutations than the general population, with 2.5% of Ashkenazi Jews carrying these genes compared with about 0.02% of the...