The challenges in the integration of cancer pharmacogenetics and targeted therapies in clinical practice should require evidence of benefit to the patients (a favorable balance of harms and benefits of testing), cost-effectiveness for the healthcare system, incorporating patient preferences, improving provider education, and anticipating potential ethical and social implications. It is possible that pharmacogenetic testing and the subsequent use of targeted therapies will add cost without producing clinically meaningful improvements in patient outcomes. In the absence of data that can address its clinical utility and value, integration of pharmacogenetic testing in the healthcare system is not straightforward.
This Technology Assessment assesses the evidence on the benefits and harms of three pharmacogenetic tests employed for three different diseases pertinent to the Medicare beneficiary population: variations in CYP2D6 and response to tamoxifen in breast cancer; variations in KRAS and response to cetuximab and panitumumab in colorectal cancer and variations in BCR-ABL1 and response to imatinib, dasatinib and nilotinib in chronic myeloid leukemia. The Coverage and Analysis Group at the Centers for Medicare and Medicaid Services (CMS) requested this report from The Technology Assessment Program (TAP) at the Agency for Healthcare Research and Quality (AHRQ). AHRQ assigned this report to the following Evidence-based Practice Center: Tufts EPC (HHSA 290 2007 100551).