Understanding the decision of parents to opt‐out of medically actionable secondary findings offered through genome sequencing

Genomic sequencing (GS) for patients and families with rare disease creates the opportunity for precise diagnosis as well as the option to learn about medically actionable secondary findings (SF). Debate persists internationally on how to manage the analysis and disclosure of SF, especially in settings where service delivery models for GS are still in development and outcomes are preliminary. This study aimed to understand parents' decision to opt-out of learning about their child's SF for adult-onset conditions and whether an SF identified in a child was inherited. All children received GS as part of their diagnostic work-up for a rare disease. Sixteen semistructured interviews were conducted with parents. Guided by a qualitative approach, interviews were analyzed with inductive content analysis. Participants reported that the timing of decision-making, competing priorities, anticipated adverse psychological outcomes, and health-related beliefs and worldviews contributed to their decision to opt-out of receiving SF. An emphasis was placed on a preference for flexible SF delivery models to aid in reducing the burden of SF decision-making at the time of indication-based testing. Genetic service delivery models that separate the timing of decisions about indication-based test results and SF may address patient preferences. Findings from this work may inform clinical practice and policy in jurisdictions where SF delivery models are still being developed and optimized.