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Epidemiol Rev. 2011 Jul;33(1):148-64. doi: 10.1093/epirev/mxr008. Epub 2011 Jun 27.

Genetic screening.

Author information

  • 1Department of Bioethics and Humanities, A204 Health Sciences Building, Box 357120, University of Washington, Seattle, WA 98195, USA. wburke@u.washington.edu

Abstract

Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to assist reproductive decision making, and family history assessment to identify individuals who would benefit from additional prevention measures. Although the traditional goal of screening is to identify early disease or risk in order to implement preventive therapy, genetic screening has always included an atypical element-information relevant to reproductive decisions. New technologies offer increasingly comprehensive identification of genetic conditions and susceptibilities. Tests based on these technologies are generating a different approach to screening that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention. Use of these tests in population screening will increase the challenges already encountered in genetic screening programs, including false-positive and ambiguous test results, overdiagnosis, and incidental findings. Whether this approach is desirable requires further empiric research, but it also requires careful deliberation on the part of all concerned, including genomic researchers, clinicians, public health officials, health care payers, and especially those who will be the recipients of this novel screening approach.

PMID:
21709145
[PubMed - indexed for MEDLINE]
PMCID:
PMC3166195
Free PMC Article
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