Bonus: Recommended Updates to the Huntington's Disease Testing Protocol

In this bonus episode, we delve into the evolution of the Huntington Disease Predictive Genetic Testing Protocol, exploring its origins and the pressing need for updates after a decade.

Publication: 40+ years of the Huntington disease predictive genetic testing protocol: Recommendations for an update

Jill Goldman is a Professor of Genetic Counseling in Neurology at Columbia University Medical Center. She has specialized in hereditary neurological diseases such as FTD, Prion disease, Alzheimer’s disease, Parkinson’s disease, and Huntington’s disease. She is on the faculty of the Columbia University Master’s Program in Genetic Counseling. Additionally, she leads a support group for caregivers of people with frontotemporal dementia., She also created and coordinates “A Friend for Rachel”, a companionship program in which people with early to moderate dementia are paired with Columbia pre-medical students. Ms. Goldman has authored many papers and book chapters including: “Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors” (Genet Med. 2011). She is the editor of the textbook: Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians, Springer, 2015. Ms. Goldman is an emeritus member of the medical advisory council of the Association for Frontotemporal Dementia (AFTD), Advisory Panel and a Board of Directors member of the AFTD and Chair of the Columbia University Genetic Counseling Master’s Program Advisory Board.

Wendy R. Uhlmann, MS, LCGC, is the director/senior genetic counselor of the Medical Genetics Clinic (adults) at Michigan Medicine/University of Michigan and provides genetic counseling, primarily to patients with neurogenetic conditions (e.g. ALS, Alzheimer's disease/dementias, Huntington disease). She is a Clinical Professor in the Departments of Internal Medicine and Human Genetics and notably was the first faculty member to achieve this rank in the medical school with a master’s degree. She is an executive faculty member of the master's degree Genetic Counseling Program and member of the Adult Ethics Committee. Wendy Uhlmann is a Past President of the National Society of Genetic Counselors (NSGC) and previously served on the Board of Directors of the American Society of Human Genetics, the Genetic Alliance Board and as NSGC’s liaison to the National Advisory Council for Human Genome Research. Currently she serves on the Advisory Board for the Center for ELSI Resources and Analysis (CERA) and the Scientific Advisory Board for the Michigan Biotrust and previously served on the ELSI Congress Organizing Committee. Wendy Uhlmann co-edited the first two editions of the book “A Guide to Genetic Counseling,” which is used internationally in genetic counseling graduate programs. Wendy Uhlmann was the recipient of NSGC’s Regional Leadership Award (1996), the Outstanding Volunteer Award (2009), the Natalie Weissberger Paul Lifetime Achievement Award (2011) and University of Michigan’s Basic Sciences Teaching Award in Human Genetics (2013).

In this episode we discuss:

- The inception of the predictive genetic testing protocol in Huntington’s disease

- Need for revisions and updates to the protocol

- Evolving roles of genetic counselors

- Innovations in patient interaction

- The human element in genetic counseling

Additional resources:

- 2013 publication: Recommendations for the predictive genetic test in Huntington’s disease by MacLeod, Tibben, Frontali et al.

- 2016 Genetic Testing Protocol for Huntington’s Disease from the Huntington’s Disease Society of America

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

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