Subjects

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.

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The research described in this report was funded by NIH grants U01HG006485, U01HG006487, U01HG006492, U01HG006500, U01HG006507, U01HG006546, U01HG007307, UM1HG007301, UM1HG006508, UM1HG007292, U01HG007307, ZIAHG200387, R01HG006600, and K01HG009173. The authors thank Carrie Blout, Wendy Chung, Jessica Everett, Jyoti Athanikar, Tia Kauffman, Katie Lewis, Sharon Plon, Kevin Bowling, and Myra Roche for their help recruiting participants.

Author information

Affiliations

  1. Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA

    • Kurt D Christensen PhD
  2. Division of Translational Medicine & Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    • Barbara A Bernhardt MS, CGC
  3. Division of Medical Genetics, University of Washington, Seattle, Washington, USA

    • Gail P Jarvik MD, PhD
    •  & Jeffrey Ou BA, BS
  4. Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

    • Lucia A Hindorff MPH, PhD
  5. Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

    • Sawona Biswas MS, CGC
  6. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA

    • Bradford C Powell MD, PhD
    •  & Jonathan S Berg MD, PhD
  7. Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

    • Robert W Grundmeier MD
    • , Dean J Karavite MSI
    •  & Jeffrey W Pennington BS
  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

    • Kalotina Machini MS, PhD
  9. Division of Genetics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

    • Ian D Krantz MD
  10. Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    • Ian D Krantz MD
  11. Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA

    • Katrina A B Goddard PhD

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Disclosure

The authors declare no conflict of interest.

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Correspondence to Kurt D Christensen PhD.

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DOI

https://doi.org/10.1038/gim.2017.243

Further reading

  • Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

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