A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings
Fulltext:
244759.pdf
Embargo:
until further notice
Size:
526.9Kb
Format:
PDF
Description:
Publisher’s version
Publication year
2021Source
Genetics in Medicine, 23, 12, (2021), pp. 2260-2269ISSN
Publication type
Article / Letter to editor
Display more detailsDisplay less details
Organization
IQ Healthcare
Rehabilitation
Orthopaedics
Journal title
Genetics in Medicine
Volume
vol. 23
Issue
iss. 12
Page start
p. 2260
Page end
p. 2269
Subject
Radboudumc 18: Healthcare improvement science RIHS: Radboud Institute for Health Sciences; IQ Healthcare - Radboud University Medical Center; Orthopaedics - Radboud University Medical Center; Rehabilitation - Radboud University Medical CenterAbstract
PURPOSE: Secondary findings (SFs) are present in 1-4% of individuals undergoing genome/exome sequencing. A review of how SFs are disclosed and what outcomes result from their receipt is urgent and timely. METHODS: We conducted a systematic literature review of SF disclosure practices and outcomes after receipt including cascade testing, family and provider communication, and health-care actions. Of the 1,184 nonduplicate records screened we summarize findings from 27 included research articles describing SF disclosure practices, outcomes after receipt, or both. RESULTS: The included articles reported 709 unique SF index recipients/families. Referrals and/or recommendations were provided 647 SF recipients and outcome data were available for 236. At least one recommended evaluation was reported for 146 SF recipients; 16 reports of treatment or prophylactic surgery were identified. We found substantial variations in how the constructs of interest were defined and described. CONCLUSION: Variation in how SF disclosure and outcomes were described limited our ability to compare findings. We conclude the literature provided limited insight into how the American College of Medical Genetics and Genomics (ACMG) guidelines have been translated into precision health outcomes for SF recipients. Robust studies of SF recipients are needed and should be prioritized for future research.
This item appears in the following Collection(s)
- Academic publications [245131]
- Electronic publications [132446]
- Faculty of Medical Sciences [93207]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.