Genetic screening

Wylie Burke, Beth Tarini, Nancy Press, James P. Evans

    Research output: Contribution to journalArticle

    50 Citations (Scopus)

    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.

    Original languageEnglish (US)
    Pages (from-to)148-164
    Number of pages17
    JournalEpidemiologic Reviews
    Volume33
    Issue number1
    DOIs
    StatePublished - Jul 2011

    Fingerprint

    Genetic Testing
    Genetic Predisposition to Disease
    Technology
    Incidental Findings
    Family Planning Services
    Research
    Decision Making
    Public Health
    Research Personnel
    Newborn Infant
    Delivery of Health Care
    Therapeutics
    Population

    Keywords

    • genetic testing
    • genetics, medical
    • genomics
    • heterozygote detection
    • neonatal screening
    • prenatal diagnosis

    ASJC Scopus subject areas

    • Epidemiology

    Cite this

    Burke, W., Tarini, B., Press, N., & Evans, J. P. (2011). Genetic screening. Epidemiologic Reviews, 33(1), 148-164. https://doi.org/10.1093/epirev/mxr008

    Genetic screening. / Burke, Wylie; Tarini, Beth; Press, Nancy; Evans, James P.

    In: Epidemiologic Reviews, Vol. 33, No. 1, 07.2011, p. 148-164.

    Research output: Contribution to journalArticle

    Burke, W, Tarini, B, Press, N & Evans, JP 2011, 'Genetic screening', Epidemiologic Reviews, vol. 33, no. 1, pp. 148-164. https://doi.org/10.1093/epirev/mxr008
    Burke W, Tarini B, Press N, Evans JP. Genetic screening. Epidemiologic Reviews. 2011 Jul;33(1):148-164. https://doi.org/10.1093/epirev/mxr008
    Burke, Wylie ; Tarini, Beth ; Press, Nancy ; Evans, James P. / Genetic screening. In: Epidemiologic Reviews. 2011 ; Vol. 33, No. 1. pp. 148-164.
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