Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Aug 25:24:393-414.
doi: 10.1146/annurev-genom-101122-103209. Epub 2023 Mar 13.

Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal

Susan M Wolf  1 , Robert C Green  2
Affiliations
Review

Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal

Susan M Wolf et al. Annu Rev Genomics Hum Genet. .

Abstract

Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants that are pathogenic or likely pathogenic and actionable. Multiple guidelines recommend that findings associated with actionable conditions be offered to research participants in order to demonstrate respect for autonomy, reciprocity, and participant interests in health and privacy. Some recommendations go further and support offering a wider range of findings, including those that are not immediately actionable. In addition, entities covered by the US Health Insurance Portability and Accountability Act (HIPAA) may be required to provide a participant's raw genomic data on request. Despite these widely endorsed guidelines and requirements, the implementation of return of genomic results and data by researchers remains uneven. This article analyzes the ethical and legal foundations for researcher duties to offer adult participants their interpreted results and raw data as the new normal in genomic research.

Keywords: genomics; incidental findings; research ethics; return of results; secondary findings; whole genome sequencing.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Timeline of key dates in the US development of gRoR in genomic research. Abbreviations: ACMG, American College of Medical Genetics and Genomics; CDC, Centers for Disease Control and Prevention; CSER, Clinical Sequencing Exploratory Research; eMERGE, Electronic Medical Records and Genomics; gRoR, return of genetic or genomic results; NBAC, National Bioethics Advisory Commission; NHLBI, National Heart, Lung, and Blood Institute; NIH, National Institutes of Health; SACHRP, Secretary’s Advisory Committee on Human Research Protections.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Abul-Husn NS, Soper ER, Braganza GT, Rodriguez JE, Zeid N, et al. 2021. Implementing genomic screening in diverse populations. Genome Med 3:17 - PMC - PubMed
    1. ACMG Board Dir. 2012. Points to consider in the clinical application of genomic sequencing. Genet. Med 14:759–61 - PubMed
    1. ACMG Board Dir. 2015. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet. Med 17:68–69 - PubMed
    1. ACMG Board Dir. 2015. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet. Med 17:505–7 - PubMed
    1. Allen NL, Karlson EW, Malspeis S, Lu B, Seidman CE, Lehmann LS. 2014. Biobank participants’ preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project. Mayo Clin. Proc 89:738–46 - PMC - PubMed

Publication types

MeSH terms

LinkOut - more resources