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Scheuner MT, Russell MM, Chanfreau-Coffinier C, Peredo J, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI. Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions. Genetics in Medicine : Official Journal of The American College of Medical Genetics. 2019 Jun 1; 21(6):1371-1380.
PURPOSE: Robust evidence about the value of clinical genomic interventions (CGIs), such as genetic/genomic testing or clinical genetic evaluation, is limited. We obtained stakeholders'' perspectives on outcomes from CGIs to help inform their value. METHODS: We used an adapted Delphi expert panel process. Two anonymous survey rounds assessed the value of 44 CGI outcomes and whether a third party should pay for them, with discussion in between rounds. RESULTS: Sixty-six panelists responded to the first-round survey and 60 to the second. Policy-makers/payers gave the lowest ratings for value and researchers gave the highest. Patients/consumers had the most uncertainty about value and payment by a third party. Uncertainty about value was observed when evidence of proven health benefit was lacking, potential harms outweighed benefits for reproductive outcomes, and outcomes had only personal utility for individuals or family members. Agreement about outcomes for which a third party should not pay included prevention through surgery with unproven health benefits, establishing ancestry, parental consanguinity, and paternity. CONCLUSION: Research is needed to understand factors contributing to uncertainty and stakeholder differences about the value of CGI outcomes. Reaching consensus will accelerate the creation of metrics to generate the evidence needed to inform value and guide policies that promote availability, uptake, and coverage of CGIs.