Genetic counseling and testing for Huntington's disease: A historical review

Abstract

This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care.

Positive Attitudes and Therapeutic Misconception Around Hypothetical Clinical Trial Participation in the Huntington’s Disease Community

“…In the coming years, the HD community will need to have an accurate understanding of the research process to make informed decisions regarding trial participation. Clinicians are responsible for discussing the outlook of HD research with patients, connecting families to trials, and managing expectations regarding trial outcomes [23,24]. The present study sought to assess clinical trial attitudes and understanding in the HD community in order to help prepare clinicians for discussions about participation in HD clinical trials.…”

Long-term Negative Psychological Impact of Presymptomatic Testing on Familial Amyloid Polyneuropathy

“…Genetic counseling is a clinical practice which implies that the genetic counselor has the following skills: genetics expertise and analysis skills; interpersonal, psychosocial, and counseling skills; education; and professional development and practice skills (Wicklund & Trepanier, 2014). In the genetic counseling process, the predictive and presymptomatic types of testing (PST) are used to detect gene mutations associated with disorders that appear after birth, often later in life (Nance, 2017). Usually, it takes about a year and during that period it is possible to assess the psychological impact of knowledge about the genetic status.…”

Identification of Biomarkers in Neuropsychiatric Disorders Based on Systems Biology and Epigenetics

“…Such neuropsychiatric disorders have a greater neurological than a psychiatric component. They include RTT (Eyal et al, 2019), HD (Nance, 2017), and FXS (Wattendorf and Muenke, 2005). It must be noted that the molecular tests for these disorders involve genetic rather than epigenetic testing.…”