Genetic screening

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

    Research output: Contribution to journalArticle

    50 Scopus citations

    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
    Publication statusPublished - Jul 2011

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    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