Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.

Autor: Rini C; Department of Medical Social Sciences, Northwestern University, Chicago, IL 60611, USA; Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL 60611, USA. Electronic address: christine.rini@northwestern.edu., Roche MI; Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Lin FC; Department of Biostatistics, University of North Carolina, Chapel Hill, NC 27599, USA., Foreman AKM; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Khan CM; U.S. Government Accountability Office, 441G Street NW, Washington, DC 20548, USA., Griesemer I; Department of Health Behavior, University of North Carolina, 135 Dauer Dr., Chapel Hill, NC 27599, USA., Waltz M; Department of Social Medicine, University of North Carolina, Chapel Hill, NC 27599, USA., Lee K; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., O'Daniel JM; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Evans JP; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Henderson GE; Department of Social Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Jazyk: angličtina
Zdroj: Patient education and counseling [Patient Educ Couns] 2021 Dec; Vol. 104 (12), pp. 2989-2998. Date of Electronic Publication: 2021 Apr 29.
DOI: 10.1016/j.pec.2021.04.026
Abstrakt: Objective: Many people prefer to learn secondary or "additional" findings from genomic sequencing, including findings with limited medical actionability. Research has investigated preferences for and effects of learning such findings, but not psychosocial and behavioral effects of receiving education about them and the option to request them, which could be burdensome or beneficial (e.g., causing choice overload or satisfying strong preferences, respectively).
Methods: 335 adults with suspected genetic disorders who had diagnostic exome sequencing in a research study and were randomized to receive either diagnostic findings only (DF; n = 171) or diagnostic findings plus education about additional genomic findings and the option to request them (DF + EAF; n = 164). Assessments occurred after enrollment (Time 1), after return of diagnostic results and-for DF + EAF-the education under investigation (Time 2), and three and six months later (Times 3, 4).
Results: Time 2 test-related distress, test-related uncertainty, and generalized anxiety were lower in the DF + EAF group (ps = 0.025-0.043). There were no other differences.
Conclusions: Findings show limited benefits and no harms of providing education about and the option to learn additional findings with limited medical actionability.
Practice Implications: Findings can inform recommendations for returning additional findings from genomic sequencing (e.g., to research participants or after commercial testing).
Competing Interests: Declarations of interest None.
(Copyright © 2021 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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