Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care

Andrew A Dwyer, Melissa K Uveges, Samantha Dockray, Neil Smith, Andrew A Dwyer, Melissa K Uveges, Samantha Dockray, Neil Smith

Abstract

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 post-test 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.

Keywords: Kallmann syndrome; decision making; ethics; genetic counseling; genetic testing; hypogonadotropic hypogonadism; person-centered care; qualitative research methods; rare disease; risk communication.

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Themes and sub-themes of focus group discussions. The schematic depicts the major themes (circles) and sub-themes (bullets) across the six focus groups (n = 58). Circle size reflects the frequency of times the theme was noted in all groups. Pre-test experiences include the themes ‘information & support’ and ‘attitudes & beliefs.’ Post-test experiences include the themes ‘return of results’ and ‘family communication.’ The theme ‘ethical concerns’ (related to both pre- and post-test experiences) was the least frequently cited theme.

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