Predictive testing for Huntington’s disease in a digital age; patient power with potential pitfalls

TL;DR

This paper discusses how digital healthcare changes Huntington's disease genetic testing and counseling, highlighting both opportunities and challenges.

Contribution

The paper provides updated recommendations for predictive testing in Huntington’s disease in the context of digital health advancements.

Findings

Digital health strategies may automatically release genomic results, impacting genetic counseling practices.

Recommendations are proposed to preserve the integrity of genetic counseling amid digital changes.

The EHDN Working Group reviewed literature to guide best practices in this evolving landscape.

Abstract

Advances in digital healthcare impacts genetic counselling and testing for hereditary disorders, including Huntington’s Disease. The Danish Digital Health Strategy was implemented from 2018 but has recently announced an extension to include the automatic release of all results, including genomic laboratory reports. The European Huntington’s Disease Network (EHDN) Working Group for Genetic Counselling and Testing have reviewed the existing Recommendations for Predictive Testing in Huntington’s Disease and the literature concerning digital health records and make recommendations to maintain the integrity of genetic counselling practise.