Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future

Cold Spring Harb Perspect Med. 2020 Jul 1;10(7):a036525. doi: 10.1101/cshperspect.a036525.

Abstract

Predictive genetic counseling for neurodegenerative diseases commenced with Huntington's disease (HD). Because the psychological issues and outcomes have been best studied in HD, the HD genetic counseling and testing protocol is still accepted as the gold standard for genetic counseling for these diseases. Yet, advances in genomic technology have produced an abundance of new information about the genetics of diseases such as Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease. The resulting expansion of genetic tests together with the availability of direct-to-consumer testing and clinical trials for treatment of these diseases present new ethical and practical issues requiring modifications to the protocol for HD counseling and new demands on both physicians and genetic counselors. This work reviews the history of genetic counseling for neurodegenerative diseases, its current practice, and the future direction of genetic counseling for these conditions.

Publication types

  • Review

MeSH terms

  • Alzheimer Disease / genetics*
  • Amyotrophic Lateral Sclerosis / genetics
  • Frontotemporal Dementia / genetics
  • Genetic Counseling / ethics
  • Genetic Counseling / methods*
  • Genetic Counseling / trends
  • Genetic Testing / methods*
  • Humans
  • Huntington Disease / diagnosis
  • Huntington Disease / genetics*
  • Parkinson Disease / genetics