Genetics of Huntington’s disease and special considerations for pre-symptomatic genetic testing
Evidence and practice    

Genetics of Huntington’s disease and special considerations for pre-symptomatic genetic testing

Christa Cooper Physician Assistant, Neurological Sciences, Rush University Medical Center, Chicago, Illinois, US

Why you should read this article:
  • To refresh your knowledge of the genetics of Huntington’s disease

  • To enhance your awareness of the implications of pre-symptomatic genetic testing for Huntington’s disease

  • To reflect on situations that require special consideration before genetic testing is conducted

Huntington’s disease is a fatal and progressive neurodegenerative disease characterised by a shrinkage of the brain, movement abnormalities and cognitive decline. It is an autosomal dominant disease caused by a DNA mutation in the huntingtin gene located on chromosome 4. Children with one parent affected by Huntington’s disease have a 50% risk of inheriting the faulty gene. Genetic testing for Huntington’s disease has been available for more than 20 years and can be used for pre-symptomatic or confirmatory testing. Healthcare professionals across a variety of specialties and settings, including primary care, may encounter patients who ask to be genetically tested for Huntington’s disease.

This article explains the genetics of Huntington’s disease, describes its clinical diagnosis, identifies some of the implications of pre-symptomatic genetic testing and discusses situations that require special consideration before the decision to conduct genetic testing is made. The article is written from a US perspective, but the implications and challenges discussed are highly relevant in the UK.

Primary Health Care. 31, 5, 30-35. doi: 10.7748/phc.2021.e1721

Peer review

This article has been subject to external double-blind peer review and checked for plagiarism using automated software

Correspondence

christa_s_cooper@rush.edu

Conflict of interest

None declared

Cooper C (2021) Genetics of Huntington’s disease and special considerations for pre-symptomatic genetic testing. Primary Health Care. doi: 10.7748/phc.2021.e1721

Published online: 19 May 2021

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