期刊
JOURNAL OF PERSONALIZED MEDICINE
卷 12, 期 3, 页码 -出版社
MDPI
DOI: 10.3390/jpm12030477
关键词
decision making; ethics; genetic counseling; genetic testing; hypogonadotropic hypogonadism; Kallmann syndrome; person-centered care; qualitative research methods; rare disease; risk communication
资金
- National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development [1P50HD104224-01]
Patients with rare diseases are motivated by altruism when pursuing genetic testing, but lack decisional support and counseling. Patient values, beliefs, and experiences can inform more person-centered approaches to genetic testing for rare diseases.
Most rare diseases are genetic in etiology and characterized by a 'diagnostic odyssey'. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH). Methods: We conducted six focus groups with patients with CHH (n = 58). Transcripts were coded by independent investigators and validated by external reviewers. Results: Major themes relating to pre-test experiences were 'attitudes & beliefs' (most frequently cited theme), which revealed altruism as a strong motivator for pursuing research testing and 'information and support,' which revealed a striking lack of pre-testing decisional support/genetic counseling. Major post-test themes included 'return of results,' revealing frustration with the lack of return of results and limited emotional support, and 'family communication,' describing challenging intrafamilial communication. Themes describing ethical concerns (i.e., privacy, use of samples) were least frequently noted and related to pre- and posttest experiences. Conclusions: Patients with CHH are highly motivated by altruism when pursuing testing but have significant unmet needs for pre-test decisional support and post-test counseling. It is regarded that patient values, beliefs and experiences can inform more person-centered approaches to genetic testing for rare diseases.
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