Medical Decision Making

 

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Medical Decision Making, Vol. 23, No. 5, 441-448 (2003)
DOI: 10.1177/0272989X03254456
© 2003 Society for Medical Decision Making

The Use of Gene Tests to Detect Hereditary Predisposition to Chronic Disease: Is Cost-Effectiveness Analysis Relevant?

Nananda F. Col, MD, MPP, MPH, FACP

Divisions of Women's Health and General Medicine, Department of Medicine, and Decision Systems Group, Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, ncol{at}partners.org

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 (CEAs) provide a theoretical framework for guiding clinical decisions about genetic tests. However, CEAs 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 their 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. CEAs do not seem to have played an important role in identifying whom to offer genetic testing nor how to manage those found to carry the gene marker. Credible CEAs are needed to provide guidance about screening decisions.

Key Words: genomics • BRCA genes • breast neoplasms • cost-benefit analysis • primary prevention


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