Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?

Conclusion and Recommendations In this review we attempt to summarize current knowledge about the HD mutation and how information about CAG repeats in the HTT gene can be used to provide sound genetic counseling, which can possibly extend to other neurodegenerative diseases (44). By involving families in observational (i.e., ENROLL-HD platform) and interventional trials, clinicians have an opportunity to include adult patients and their relatives (e.g., partners, symptomatic minors, premanifest adults) in research-based networks that provide current knowledge about developments in genetic testing and novel therapies in HD (45). With advances in research and improved understanding of mechanisms of dysfunction, degeneration and abnormal development of brain in HD, innovative experimental therapies, such as antisense oligonucleotide (ASO), gene editing by CRSPR/CAS, or suppression of gene modifiers of age at onset may, hopefully, be transferred from basic research into clinics in a not so far future (14, 46, 47). Theoretically, such strategies will consequently require new competencies in the pre- and post-test counseling as well as in pre- and post-conceptional approaches. Moreover, we need to remind that we still need to fully understand how HD develops and why there is such a wide spectrum of heterogeneous clinical manifestations among patients. Accordingly, new potential challenges in genetic diagnosis will require further and constant updates of guidelines and the psychol...
Source: Frontiers in Neurology - Category: Neurology Source Type: research