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Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders

Ryan S. Paquin PhD, Kathleen F. Mittendorf PhD, Megan A. Lewis PhD, Jessica Ezzell Hunter MS, PhD, Kristy Lee MS, CGC, Jonathan S. Berg MD, PhD, Marc S. Williams MD & Katrina A. B. Goddard PhD

Purpose

The Clinical Genome Resource (ClinGen) Actionability Working Group (AWG) developed a semiquantitative scoring metric to rate clinical actionability of genetic disorders and associated genes in four domains: (1) severity of the outcome, (2) likelihood of the outcome, (3) effectiveness of the intervention to prevent/minimize the outcome, and (4) nature of the intervention with respect to burden, risk, tolerability, and acceptability to the patient. This study aimed to assess whether nature of the intervention scores assigned by AWG experts reflected lay perceptions of intervention burden, risk, tolerability, and acceptability given the subjectivity of this domain.

Methods

In July 2017, a general population sample of 1344 adults completed the study. Each participant was asked to read 1 of 24 plain language medical intervention synopses and answer questions related to its burden, risk, tolerability, and acceptability. We conducted three multilevel mixed model analyses predicting the perceived burden, perceived risk, and perceived overall nature of the intervention.

Results

As AWG nature of the intervention scores increased, lay perceptions of intervention burden and risk decreased, and perceptions of tolerability and acceptability increased.

Conclusion

The findings show alignment between the ClinGen actionability scoring metric and lay perceptions of the nature of the intervention.

Date April 26, 2019
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