Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies

Jill O. Robinson, Julia Wynn, Barbara Biesecker, Leslie G. Biesecker, Barbara Bernhardt, Kyle B. Brothers, Wendy K. Chung, Kurt D. Christensen, Robert C. Green, Amy L. McGuire, M. Ragan Hart, Ida Griesemer, Donald L. Patrick, Christine Marie Rini, David Veenstra, Angel M. Cronin, Stacy W. Gray*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Purpose: As exome and genome sequencing (ES/GS) enters the clinic, there is an urgent need to understand the psychological effects of test result disclosure. Through a Clinical Sequencing Exploratory Research (CSER), phase 1 (CSER1) Consortium collaboration, we evaluated participants’ psychological outcomes across multiple clinical settings. Methods: We conducted a random effects meta-analysis of state anxiety (Hospital Anxiety and Depression Scale [HADS]/Generalized Anxiety Disorder 7-item), depressive symptoms (HADS/Personal Health Questionnaire 9-item), and multidimensional impact (i.e., test-related distress, uncertainty and positive impact: modified Multidimensional Impact of Cancer Risk Assessment/Feelings About Genomic Testing Results scale). Results: Anxiety and depression did not increase significantly following test result disclosure. Meta-analyses examining mean differences from pre- to postdisclosure revealed an overall trend for a decrease in participants’ anxiety. We observed low levels of test-related distress and perceptions of uncertainty in some populations (e.g., pediatric patients) and a wide range of positive responses. Conclusion: Our findings across multiple clinical settings suggest no clinically significant psychological harms from the return of ES/GS results. Some populations may experience low levels of test-related distress or greater positive psychological effects. Future research should further investigate the reasons for test-related psychological response variation.

Original languageEnglish (US)
Pages (from-to)2781-2790
Number of pages10
JournalGenetics in Medicine
Volume21
Issue number12
DOIs
StatePublished - Dec 1 2019

Keywords

  • exome sequencing
  • genome sequencing
  • patient-reported outcomes
  • psychological effect
  • return of results

ASJC Scopus subject areas

  • Genetics(clinical)

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