Journal
MEDICAL DECISION MAKING
Volume 23, Issue 5, Pages 441-448Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0272989X03254456
Keywords
genomics; BRCA genes; breast neoplasms; cost-benefit analysis; primary prevention
Funding
- AHRQ HHS [R01 HS013329-01] Funding Source: Medline
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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 dire 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.
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