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Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):75-92. doi: 10.1002/ajmg.b.32453. Epub 2016 May 13.

Genetic counseling and testing for Huntington's disease: A historical review.

Author information

1
Struthers Parkinson's Center, Golden Valley, Minnesota.
2
Hennepin County Medical Center, Minneapolis, Minnesota.

Abstract

This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care.

KEYWORDS:

HD; genetic care; predictive testing; preimplantation testing; prenatal testing

PMID:
27174011
DOI:
10.1002/ajmg.b.32453
[Indexed for MEDLINE]

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