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Handbook of Genomics and the Family pp 241–266Cite as

Single Gene Disease Risk

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Part of the book series: Issues in Clinical Child Psychology ((ICCP))

Abstract

The diagnosis of a child with a single gene disorder can take on different meanings for different families. It is not uncommon for some families to arrive at a pediatric genetics clinic after months or years of searching for an underlying reason for their child’s symptoms. The fact that, through genetic testing, clinicians can put a name to the collection of differences already noted in the child provides the family access to prognostic information, supportive resources, more accurate reproductive risk counseling, and possible relief from the burden of uncertainty.

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Authors and Affiliations

  1. University of California, San Francisco, CA, USA

    Tricia See

  2. National Institutes of Health, Bethesda, MD, USA

    Cynthia J. Tifft

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  1. Tricia See
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  1. Division of Health Outcomes & Health Beh, Department of Oncology, Georgetown University, Whitehaven St, NW 3300, Washington, 20007, District of Columbia, USA

    Kenneth P. Tercyak

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See, T., Tifft, C.J. (2010). Single Gene Disease Risk. In: Tercyak, K. (eds) Handbook of Genomics and the Family. Issues in Clinical Child Psychology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-5800-6_10

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