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

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.

Short Communication: Lived experience perspectives on genetic testing for a rare eye disease

“…The cost associated with genetic testing emerged as a notable barrier for some study participants. This concern aligns with the findings from a qualitative study conducted in Boston, USA, where individuals affected by rare diseases identified the cost as the primary barrier preventing them from receiving genetic testing, with specific concerns around insurance coverage (Dwyer et al 2022 ). Similarly in an Australian discrete choice experiment study, participants reported a reluctance to genetic testing when presented with higher costs and requirement to disclose results to health insurers (Goranitis et al 2020 ).…”

“…A participant in the current study conveyed a desire to undergo genetic testing and participate in research to contribute to advancing knowledge that could alleviate the burden of the condition for future generations. This motivation is consistent for other rare disease patients, whereby altruism is a strong catalyst for pursuing genetic testing, particularly in the context of research (Dwyer et al 2022 ).…”

“…When thinking about the effective delivery of genetic testing information and knowledge, genetic counsellors play a crucial role in supporting individuals navigate their ocular disease (Gillespie et al 2014 ). While access to genetic counselling should be a priority to support decision-making around testing and specifically access to genetic counsellors with expertise in rare diseases, the use of online decisional support could be a potential measure to mitigate the shortage of genetic counsellors for rare diseases (Dwyer et al 2022 ). These tools can also serve to raise awareness of genetic testing and counselling options and increase access to information and support for patients and families (Dwyer et al 2022 ).…”

Stigma associated with genetic testing for rare diseases—causes and recommendations

“…Accordingly, in a “Patient Attitudes and Beliefs” survey, it was observed that patients with congenital hypogonadotropic hypogonadism (CHH) are driven by altruism to pursue genetic testing. However, there is a substantial unmet need for genetic counseling to support pretest decision making and post-test counseling ( Dwyer et al, 2022 ). Furthermore, a survey evaluating the opinion of the members of RD social media groups on engaging with genetic counselors through social media found that PLWRDs and their family members were interested in connecting with genetic counselors through these platforms ( Yabumoto et al, 2022 ).…”

“…RDs are often characterized as “diagnostic odyssey,” with the average time to arrive at a correct RD diagnosis after presentation being 5 years. The diagnostic delays can impede treatment initiation and causes substantial psychological, emotional, and financial distress for patients and their caregivers ( Dwyer et al, 2022 ). Clinical genetic testing helps identify DNA anomalies that cause rare genetic disease.…”