Patient Perspectives on Genetic Testing in Transthyretin Amyloid Cardiomyopathy: Framing the Conversation to Improve Implementation

Background Genetic testing is recommended in the evaluation of transthyretin amyloid cardiomyopathy (ATTR-CM) with the goal of improving diagnosis and facilitating cascade genetic testing of at-risk family members. This has become increasingly important with the availability of targeted therapeutics. However, utilization of genetic testing in ATTR-CM has been slow. Methods In this single-center qualitative study, we conducted semi-structured interviews with 10 participants (either with ATTR-CM or at-risk family members). Interviews were recorded, transcribed, and analyzed using deductive and inductive approaches. Baseline genetic proficiency was evaluated using a validated Genetics Knowledge Questionnaire. Results Four common themes emerged from the patient interviews around genetic testing. Utilization of genetic testing predominantly depended on a trusted non-genetic provider's recommendation. Attitudes toward genetic testing were overall positive with cited benefits of increasing disease knowledge and protecting family members. Patients considered genetic testing to be an easy process, but it was often associated with psychological distress, especially among asymptomatic at-risk family members. Pretest counseling with informed consent and discussion of insurance discrimination risks (disability, life) was important to patients but often inadequate. Participants had a median score of 88% on the Genetics Knowledge Questionnaire. Conclusions In this qualitative study, we found that patients with ATTR-CM and at-risk family members viewed genetic testing positively but emphasized the importance of provider recommendation, emotional support, informed consent, and disclosure of potential insurance discrimination risks. These findings highlight key patient-centered priorities to guide the implementation of genetic testing into clinical cardiology practice.