Patient perspectives on gene therapies and gene editing for familial cardiomyopathies

Background Gene replacement and gene editing therapies for cardiomyopathies are in early-phase clinical trials. However, limited data exist on patient perspectives. We assessed adult familial cardiomyopathy patient perspectives towards the clinical implementation of somatic genetic therapies. Methods Patients completed a demographic survey and semi-structured interview. A codebook was developed deductively and inductively, and thematic analysis was performed. Results Twenty-one participants with genetic and clinical diagnoses of either hypertrophic cardiomyopathy (17) or dilated cardiomyopathy (4) completed interviews. Participants ranged from age 38 to 80 (mean 57) and were 57% female. Four main themes influence participants’ decision-making for hypothetical pursuit of genetic therapies: 1) perceived clinical severity 2) potential for impact on quality of life 3) treatment details - safety, mechanism, and delivery 4) ethical and societal considerations. Those who described a severe clinical presentation expressed increased interest in genetic therapies and an increased willingness to accept risks for potential quality of life improvement, particularly if the therapy targeted the root cause and halted condition progression. Participants voiced uncertainties about the safety and long-term consequences of these therapies. Many participants believed that clinical severity should be prioritized for genetic therapies regardless of age; some felt younger individuals benefit more, avoiding lifelong treatment. Family members’ negative experiences with cardiomyopathies also influenced the decision-making process. A majority ranked genetic therapies over other treatment options, with 29% expressing hypothetical interest in participating in clinical trials or early adoption post-FDA approval. Ethical and societal concerns included misuse of these therapies, their egalitarian distribution, and loss of beneficial genetic traits. Conclusion Patients' support for and concerns about genetic therapies for cardiomyopathies highlight the need for clear communication of benefits, risks, uncertainties, and potential impact on quality of life. Including patients in discussions about the ethical and societal impacts of these therapies is essential.