Assessing Psychosocial Risk and Resilience to Support Readiness for Gene Therapy in Sickle Cell Disease

Abstract

ImportanceThe introduction of gene therapies into the clinical care landscape for individuals living with sickle cell disease (SCD) represents a momentous achievement with the potential to rewrite the story of the world’s most prevalent heritable blood disorder. This disease, which was first described in 1910 and did not see a US Food and Drug Administration–approved therapeutic until 1998, is poised to be among the first to realize the promise of gene therapy and genome editing. However, the future of these treatments now rests on how evidence of safety, outcomes, and acceptance in clinical practice unfolds in SCD. Furthermore, historic injustices involving the exploitation of individuals from minoritized racial and ethnic groups in medical contexts necessitate extreme care in ensuring readiness among individuals with SCD considering genetic therapies.ObjectiveTo address a gap in resources focused on patient readiness for gene therapy.Evidence ReviewThe Cure Sickle Cell Initiative organized the Patient Readiness and Resilience Working Group in September 2020. Membership was comprised of behavioral health clinicians and scientists with expertise in SCD, adults with lived experience with SCD, and a caregiver. Over 2 years, the working group developed consensus recommendations and created resources to guide implementation of pregene therapy patient readiness assessments. Recommendations centered on strategies to enhance delivery of education about gene therapy and assess knowledge and understanding, interest and motivation, and psychosocial risk and resilience factors.FindingsFive goals of a pregene therapy patient readiness assessment were identified: (1) gathering information about a patient’s understanding of and perceived readiness for gene therapy; (2) encouraging an open dialogue; (3) providing a conceptualization of psychosocial factors that may influence participation in gene therapy; (4) identifying patient strengths that can be used to promote psychosocial well-being before, during, and after gene therapy; (5) identifying and addressing psychosocial risks.Conclusions and RelevancePatient readiness and psychosocial factors will have tangible implications for the success of gene therapy at individual and collective levels. Health care institutions, industry, payers, policymakers, and clinicians all shoulder responsibility for ensuring that patients with SCD are adequately prepared for gene therapy and supported in ways that optimize readiness and access. Resources described here may be leveraged as a guide to support implementation of pregene therapy assessments of patient readiness and resilience in SCD.