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.


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.


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).


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.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1

    Quinlan-Jones E, Kilby MD, Greenfield S et al. Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives. Prenat Diagn 2016;36:935–941.

  2. 2

    Krier JB & Green RC. Management of incidental findings in clinical genomic sequencing. Curr Protoc Hum Genet 2015;87:9.23.21–16.

  3. 3

    Vears DF, Senecal K & Borry P. Reporting practices for unsolicited and secondary findings from next generation sequencing technologies: perspectives of laboratory personnel. Hum Mutat 2017;38:905–911.

  4. 4

    Friedman JM, Cornel MC, Goldenberg AJ, Lister KJ, Senecal K & Vears DF. Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics 2017;10:9.

  5. 5

    Kang SK, Spector-Bagdady K, Caplan AL & Braithwaite RS. Exome and genome sequencing and parallels in radiology: searching for patient-centered management of incidental and secondary findings. J Am Coll Radiol 2016;13(12 pt A):1467–1472.

  6. 6

    Mackley MP, Fletcher B, Parker M, Watkins H & Ormondroyd E. Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. Genet Med 2017;19:283–293.

  7. 7

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

  8. 8

    Kalia SS, Adelman K, Bale SJ et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2017;19:249–255.

  9. 9

    Green RC, Lupski JR & Biesecker LG. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA 2013;310:365–366.

  10. 10

    McGuire AL, Diaz CM, Wang T & Hilsenbeck SG. Social networkers’ attitudes toward direct-to-consumer personal genome testing. Am J Bioeth 2009;9:3–10.

  11. 11

    Christensen KD, Vassy JL, Jamal L et al. Are physicians prepared for whole genome sequencing? A qualitative analysis. Clin Genet 2016;89:228–234.

  12. 12

    McGuire AL & Burke W. An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons. JAMA 2008;300:2669–2671.

  13. 13

    Kohane IS, Masys DR & Altman RB. The incidentalome: a threat to genomic medicine. JAMA 2006;296:212–215.

  14. 14

    Brownlee S. Overtreated: Why Too Much Medicine Is Making Us Sicker and Poorer. Bloomsbury: New York,, 2007.

  15. 15

    Kutz GNutrigenetic Testing: Tests Purchased from Four Web Sites Mislead Consumers Testimony Before the Special Committee on Aging, U.S. Senate. United States Government Accountability Office: Washington, DC, 2006.

  16. 16

    Christensen KD, Kalia SS & Green RCIncidental findings from genetic testing. In: Raby BA (ed). UpToDate. UpToDate: Waltham, MA, 2014.

  17. 17

    Green RC, Goddard KAB, Jarvik GP et al. Clinical Sequencing Exploratory Research Consortium: accelerating evidence-based practice of genomic medicine. Am J Hum Genet 2016;98:1051–1066.

  18. 18

    Hindorff LA, Burke W, Laberge A et al. Motivating factors for physician ordering of factor V Leiden genetic tests. Arch Intern Med 2009;169:68–74.

  19. 19

    Scheuner MT, Edelen MO, Hilborne LH & Lubin IM. Effective communication of molecular genetic test results to primary care providers. Genet Med 2013;15:444–449.

  20. 20

    Haga SB, Carrig MM, O’Daniel JM et al. Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling. J Gen Intern Med 2011;26:834–840.

  21. 21

    Grant RW, Hivert M, Pandiscio JC, Florez JC, Nathan DM & Meigs JB. The clinical application of genetic testing in type 2 diabetes: a patient and physician survey. Diabetologia 2009;52:2299–2305.

  22. 22

    Pennington JW, Karavite DJ, Krause EM, Miller J, Bernhardt BA & Grundmeier RW. Genomic decision support needs in pediatric primary care. J Am Med Inform Assoc 2017;24:851–856.

  23. 23

    Christensen KD, Scheuner MT, Garber JE, Rehm HL & Green RC Responses of primary care physicians to unsolicited secondary findings about Lynch syndrome. 2015 American Society of Human Genetics Annual Meeting, Baltimore, MD, 22 October 2015.

  24. 24

    Hunter JE, Irving SA, Biesecker LG et al. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med 2016;18:1258–1268.

  25. 25

    Harris RJ. A Primer of Multivariate Statistics. Psychology Press: London, 2001.

  26. 26

    van Buuren S & Groothuis-Oudshoorn K. MICE: multivariate imputation by chained equations in R. J Stat Softw 2011;45:1–67.

  27. 27

    Korf BR, Berry AB, Limson M et al. Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics. Genet Med 2014;16:804–809.

  28. 28

    McCarthy JJ, McLeod HL & Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med 2013;5:189sr184–189sr184.

  29. 29

    Shirts BH, Salama JS, Aronson SJ et al. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc 2015;22:1231–1242.

  30. 30

    Vassy JL, Korf BR & Green RC. How to know when physicians are ready for genomic medicine. Sci Transl Med 2015;7:287fs219.

  31. 31

    Shahmirzadi L, Chao EC, Palmaer E, Parra MC, Tang S & Gonzalez KDF. Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing. Genet Med 2014;16:395–399.

  32. 32

    Baptista NM, Christensen KD, Carere DA, Broadley SA, Roberts JS & Green RC. Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees. Genet Med 2016;18:924–932.

  33. 33

    Wright MF, Lewis KL, Fisher TC et al. Preferences for results delivery from exome sequencing/genome sequencing. Genet Med 2014;16:442–447.

Download references

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


  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


  1. Search for Kurt D Christensen PhD in:

  2. Search for Barbara A Bernhardt MS, CGC in:

  3. Search for Gail P Jarvik MD, PhD in:

  4. Search for Lucia A Hindorff MPH, PhD in:

  5. Search for Jeffrey Ou BA, BS in:

  6. Search for Sawona Biswas MS, CGC in:

  7. Search for Bradford C Powell MD, PhD in:

  8. Search for Robert W Grundmeier MD in:

  9. Search for Kalotina Machini MS, PhD in:

  10. Search for Dean J Karavite MSI in:

  11. Search for Jeffrey W Pennington BS in:

  12. Search for Ian D Krantz MD in:

  13. Search for Jonathan S Berg MD, PhD in:

  14. Search for Katrina A B Goddard PhD in:


The authors declare no conflict of interest.

Corresponding author

Correspondence to Kurt D Christensen PhD.

Electronic supplementary material

About this article

Publication history





Further reading

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

    • M. Ragan Hart
    • , Barbara B. Biesecker
    • , Carrie L. Blout
    • , Kurt D. Christensen
    • , Laura M. Amendola
    • , Katie L. Bergstrom
    • , Sawona Biswas
    • , Kevin M. Bowling
    • , Kyle B. Brothers
    • , Laura K. Conlin
    • , Greg M. Cooper
    • , Matthew C. Dulik
    • , Kelly M. East
    • , Jessica N. Everett
    • , Candice R. Finnila
    • , Arezou A. Ghazani
    • , Marian J. Gilmore
    • , Katrina A. B Goddard
    • , Gail P. Jarvik
    • , Jennifer J. Johnston
    • , Tia L. Kauffman
    • , Whitley V. Kelley
    • , Joel B. Krier
    • , Katie L. Lewis
    • , Amy L. McGuire
    • , Carmit McMullen
    • , Jeffrey Ou
    • , Sharon E. Plon
    • , Heidi L. Rehm
    • , C. Sue Richards
    • , Edward J. Romasko
    • , Ane Miren Sagardia
    • , Nancy B. Spinner
    • , Michelle L. Thompson
    • , Erin Turbitt
    • , Jason L. Vassy
    • , Benjamin S. Wilfond
    • , David L. Veenstra
    • , Jonathan S. Berg
    • , Robert C. Green
    • , Leslie G. Biesecker
    •  & Lucia A. Hindorff

    Genetics in Medicine (2018)