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. 2021 Dec;23(12):2260-2269.
doi: 10.1038/s41436-021-01295-7. Epub 2021 Aug 26.

A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings

Julie C Sapp  1   2 , Flavia M Facio  3 , Diane Cooper  4 , Katie L Lewis  3 , Emily Modlin  3 , Philip van der Wees  5   6 , Leslie G Biesecker  3
Affiliations

A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings

Julie C Sapp et al. Genet Med. 2021 Dec.

Abstract

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.

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Figures

Figure 1.
Figure 1.
Study selection process per PRISMA guidelines
Figure 2.
Figure 2.
Data from included studies mapped to a secondary finding (SF) disclosure and outcomes paradigm. Data available from individual SF recipients included in this review are shown proportionately mapped to an idealized paradigm of SF disclosure and post-receipt outcomes demonstrating relative paucity of outcome data compared to disclosure data.
See this image and copyright information in PMC

References

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    1. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565–574. - PMC - PubMed

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