Genetic counseling and testing for Huntington's disease: A historical review. Issue 1 (13th May 2016)

• Record Type: Journal Article
• Authors: Nance, Martha A.
• Other Names: Tsuang Debby W. guestEditor.; Bird Thomas D. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 174:Issue 1(2017)
• Page Start: 75
• Page End: 92
• Publication Date: 2016-05-13
• Subjects: HD -- predictive testing -- prenatal testing -- preimplantation testing -- genetic care; Neuropsychiatry -- Periodicals; Medical genetics -- Periodicals; 616.8904205
• DOI: 10.1002/ajmg.b.32453
• Languages: English
• ISSNs: 1552-4841

Abstract

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. © 2016 Wiley Periodicals, Inc.