Is Cost-Effectiveness Analysis Relevant?
Nananda F. Col, MD, MPP, MPH, FACP Screening for genetic susceptibility provides new opportunities for preventing common diseases, but whether such screening will result in substantial costs or savings is unclear. Cost-effectiveness analyses (CEA) provide a theoretical framework for guiding clinical decisions about genetic tests. However, CEA have been largely irrelevant in informing policy, clinical decisions, or patient demand concerning these genetic tests. Genetic tests have often proceeded directly from development and preliminary validation into clinical practice, with little understanding of the clinical, economic, and psychosocial implications. Using screening for BRCA mutations as an example, the accuracy of the tests and the effectiveness of many interventions among those who screen positive remain in question. CEA do not seem to have played an important role in identifying whom to offer genetic testing or how to manage those found to carry the gene marker. Credible CEA are n
