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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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40+ years of the Huntington disease predictive genetic testing protocol: Recommendations for an update

Jill S Goldman1, Jamie C Fong2,3, Weiyi Mu4

  • 1Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.

Journal of Genetic Counseling
|May 20, 2026
PubMed

Insights

Predictive genetic testing for Huntington disease (HD) guidance needs updating due to advances in genomic sequencing, telemedicine, and legal changes. This ensures equitable access and reflects modern healthcare practices for hereditary neurogenetic conditions.

Area of Science:

  • Genetics
  • Neurology
  • Bioethics

Background:

  • Predictive genetic testing for Huntington disease (HD) has established protocols for over 40 years.
  • Existing guidance, last updated in 2016, predates significant shifts in healthcare delivery and legal frameworks.
  • Variability in clinical application of HD testing protocols exists across US institutions.

Purpose of the Study:

  • To review the history and evolution of predictive genetic testing guidance for Huntington disease.
  • To analyze the impact of recent technological, legal, and societal changes on existing HD testing protocols.
  • To propose recommendations for updating the 2016 Huntington Disease Society of America (HDSA) protocol.

Main Methods:

  • Historical review of HD genetic testing guidelines.
  • Analysis of recent advancements in genomic sequencing and telemedicine.
  • Examination of legislative changes affecting patient access to medical records and genetic information.
  • Assessment of societal shifts regarding patient autonomy and paternalism in healthcare.

Main Results:

  • The 2016 HDSA protocol requires updating to reflect current realities in healthcare and genetic testing.
  • Technological advancements like genomic sequencing offer new avenues for HD status determination.
  • Telemedicine and evolving legal landscapes necessitate adjustments in how predictive genetic testing is administered.
  • Institutional variations in staffing and genetic counselor licensing contribute to inconsistent application of testing protocols.

Conclusions:

  • The current guidance for predictive genetic testing for Huntington disease is outdated.
  • An updated protocol is essential to address technological, legal, and healthcare delivery changes.
  • Recommendations are provided for revising the HDSA protocol and interim practice guidance is offered.

Keywords:
Huntington diseasegenetic counselinggenetic counselorspredictive genetic testingprotocolrecommendations

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