The present study included multiple racial/ethnic groups, therefore allowing direct comparison of carrier prevalence estimates. Since certain mutations may be unique to specific populations, the full spectrum of mutations needs to be determined. Such information may facilitate mutation screening in a clinical setting and is needed to guide resource allocation for genetic testing, genetic counseling, and planning of preventive interventions in all population subgroups, the authors conclude.
(JAMA. 2007;298(24):2869-2876. Available pre-embargo to the media at www.jamamedia.org)
Editors Note: Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.
Editorial: Genetic Testing in Diverse Populations - Are Researchers Doing Enough to Get Out the Correct Message?
In an accompanying editorial, Dezheng Huo, M.D., Ph.D., and Olufunmilayo I. Olopade, M.D., of the University of Chicago, comment on the findings regarding genetic testing for BRCA1.
As documented by John et al, more than half of BRCA1 mutation carriers would be detected in female patients with breast cancer whose cancers are likely to be hereditary based on age at diagnosis and family history. The differences in BRCA1 mutation prevalence across populations should be used to more accurately calculate the pretest probability of having a mutation, rather than as evidence against genetic testing in minority populations. While there has been great debate about the role of race/ethnicity in health research, clinicians interested in providing patients with personalized assessment of cancer risk
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