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Genetic Disorders

Family Medicine

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Abstract

This chapter will serve as an initial introduction to genomic medicine for the family medicine physician. Historically, family medicine physicians have recognized and managed many common genetic syndromes such as Trisomy 21, Klinefelter’s syndrome, Neurofibromatosis, and Huntington’s chorea which exist in the population. In the current era of molecular and genomic medicine, there are an ever increasing set of competencies to adequately assess, interpret, and counsel our patients regarding their genetic contributions to the detection, prevention, and management of disease. Family physicians have an increasing responsibility to be able to accurately assess genetic familial risk, provide guidance in a vast array of genetic health care choices including prenatal testing, cancer risk assessment and intervention, medication choices based on genetically determined variations in metabolism and the exponentially increasing numbers of clinical and direct to consumer genetic testing available. The goal is that this genetic data is then integrated into personalized medicine plans for chronic disease prevention.

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Authors and Affiliations

  1. Department of Family Medicine, University of Pittsburg, UPMC-Matilda Theiss Health Center, 373 Burrows St., Pittsburgh, PA, 15213, USA

    Mylynda Beryl Massart

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  1. Mylynda Beryl Massart
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Correspondence to Mylynda Beryl Massart .

Editor information

Editors and Affiliations

  1. Department of Family Medicine, University of Nebraska, Omaha, Nebraska, USA

    Paul Paulman

  2. Virginia Beach, Virginia, USA

    Robert Taylor

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© 2015 Springer International Publishing Switzerland

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Massart, M.B. (2015). Genetic Disorders. In: Paulman, P., Taylor, R. (eds) Family Medicine. Springer, Cham. https://doi.org/10.1007/978-1-4939-0779-3_16-1

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  • DOI: https://doi.org/10.1007/978-1-4939-0779-3_16-1

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  • Publisher Name: Springer, Cham

  • Online ISBN: 978-1-4939-0779-3

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Chapter history

  1. Latest

    Genetic Disorders
    Published:
    20 August 2020

    DOI: https://doi.org/10.1007/978-1-4939-0779-3_16-2

  2. Original

    Genetic Disorders
    Published:
    03 September 2015

    DOI: https://doi.org/10.1007/978-1-4939-0779-3_16-1

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