Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.
Andrew A DwyerMelissa K UvegesSamantha DockrayNeil SmithPublished in: Journal of personalized medicine (2022)
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.