Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors.
Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictive testing for HD consists of young adults (≤35 years old). Finishing one's education, starting a career, engaging in romantic relationships and becoming a parent are key milestones of young adulthood. We conducted a qualitative study to explore how testing gene-positive for HD influences young adults' attainment of these milestones, and to identify major challenges that pre-symptomatic young adults face to aid the development of targeted genetic counseling. Results of our study demonstrate that 1) knowing one's gene-positive status results in an urgency to reach milestones and positively changes young adults' approach to life; 2) testing positive influences young adults' education and career choices, romantic relationships, and family planning; 3) young adults desire flexible and tailored genetic counseling to address needs and concerns unique to this population. Findings of this study contribute to the understanding of the impact of predictive testing for HD on young adults, and highlight issues unique to this population that call for further research, intervention and advocacy.
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Ping
P
Gong
Children's Hospital Oakland Research Institute, Benioff Children's Hospitals, University of California San Francisco, San Francisco, CA, USA.
Joanna H
JH
Fanos
Department of Pediatrics, Division of Genetics, San Diego School of Medicine, University of California, La Jolla, CA, USA.
Lauren
L
Korty
Department of Neurology, Stanford Health Care, Palo Alto, CA, USA.
Carly E
CE
Siskind
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. andreak@stanford.edu.|Department of Pediatrics, Division of Medical Genetics, Stanford University Medical Center, Stanford, CA, USA. andreak@stanford.edu.
Andrea K
AK
Hanson-Kahn
D000328:Adult; D002321:Career Choice; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000523:psychology*; D008297:Male; D009042:Motivation; D010290:Parents / Q000523:psychology; D010361:Patients / Q000523:psychology*; D017410:Practice Guidelines as Topic; D036301:Qualitative Research; D055815:Young Adult
Gene-positive; Genetic counseling; Huntington disease; Pre-symptomatic; Predictive testing; Young adults