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Genet Med. 2018 Oct;20(10):1186-1195. doi: 10.1038/gim.2017.243. Epub 2018 Feb 1.

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.

Author information

1
Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA. kchristensen@bwh.harvard.edu.
2
Division of Translational Medicine & Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
3
Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
4
Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
5
Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
6
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
7
Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
8
Department of Pathology, Brigham and Women's Hospital, and Harvard Medical School, Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston Cambridge, Massachusetts, USA.
9
Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
10
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
11
Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.

Abstract

PURPOSE:

Secondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings.

METHODS:

Providers with genomic sequencing experience reviewed five secondary-findings reports and reported attitudes and potential clinical follow-up. Analyses compared genetic specialists and physicians without specialized genetics training, and examined how responses varied by secondary finding.

RESULTS:

Genetic specialists scored higher than other providers on four-point scales assessing understandings of reports (3.89 vs. 3.42, p = 0.0002), and lower on scales assessing reporting obligations (2.60 vs. 3.51, p < 0.0001) and burdens of responding (1.73 vs. 2.70, p < 0.0001). Nearly all attitudes differed between findings, although genetic specialists were more likely to assert that laboratories had no obligations when findings had less-established actionability (p < 0.0001 in interaction tests). The importance of reviewing personal and family histories, documenting findings, learning more about the variant, and recommending familial discussions also varied according to finding (all p < 0.0001).

CONCLUSION:

Genetic specialists felt better prepared to respond to secondary findings than providers without specialized genetics training, but perceived fewer obligations for laboratories to report them, and the two groups anticipated similar clinical responses. Findings may inform development of targeted education and support.

KEYWORDS:

attitude; genetic testing; health-care utilization; incidental findings; physicians

PMID:
29388940
PMCID:
PMC6103906
[Available on 2019-04-01]
DOI:
10.1038/gim.2017.243

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