Effective use of genetic and genomic data in cancer prevention and treatment depends on adequate communication with patients and the public. Although relevant empirical work has emerged, the scope and outcomes of this communication research have not been characterized. We conducted a comprehensive scoping review of recent published research (2010–2017) on communication of cancer-related genetic and genomic testing (CGT) information. Searches in six databases revealed 9243 unique records; 513 papers were included. Most papers utilized an observational quantitative design; fewer utilized an experimental design. More attention has been paid to outcomes of CGT results disclosure than to decision making regarding CGT uptake or the process of results disclosure. Psychosocial outcomes were most common across studies. This literature has a strong focus on BRCA1/2, with few papers focused on Lynch syndrome or next-generation technologies. Women, Caucasians, older adults, and those of higher socioeconomic status were overrepresented. Research gaps identified include the need for studies on the process of CGT communication; examining behavioral, decision making, and communication outcomes; and inclusion of diverse populations. Addressing these gaps can help improve the use of genomics in cancer control and reduce disparities in access to and use of CGT.

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  1. 1.

    Kensler TW, Spira A, Garber JE, Szabo E, Lee JJ, Dong Z. Transforming cancer prevention through precision medicine and immune-oncology. Cancer Prev Res. 2016;9:2–10.

  2. 2.

    Judkins T, Leclair B, Bowles K, et al. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk. BMC Cancer. 2015;15:215.

  3. 3.

    Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014;12:1339–1346.

  4. 4.

    Hiraki S, Rinella ES, Schnabel F, Oratz R, Ostrer H. Cancer risk assessment using genetic panel testing: considerations for clinical application. J Genet Couns. 2014;23:604–617.

  5. 5.

    Beery TA, Williams JK. Risk reduction and health promotion behaviors following genetic testing for adult-onset disorders. Genet Test. 2007;11:111–123.

  6. 6.

    Burke W, Psaty BM. Personalized medicine in the era of genomics. JAMA. 2007;298:1682–1684.

  7. 7.

    Garraway LA, Verweij J, Ballman KV. Precision oncology: an overview. J Clin Oncol. 2013;31:1803–1805.

  8. 8.

    Heshka JT, Palleschi C, Howley H, Wilson B, Wells PS. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet Med. 2008;10:19–32.

  9. 9.

    Butow PN, Lobb EA, Meiser B, Barratt A, Tucker KM. Psychological outcomes and risk perception after genetic testing and counselling in breast cancer: a systematic review. Med J Aust. 2003;178:77–81.

  10. 10.

    Kaphingst KA, McBride CM. Patient responses to genetic information: studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice. Semin Nephrol. 2010;30:203–214.

  11. 11.

    Hollands GJ, French DP, Griffin SJ. The impact of communicating genetic risks of disease on risk-reducing health behaviour. BMJ. 2016;352:1/2p.

  12. 12.

    McBride CM, Wade CH, Kaphingst KA. Consumers’ views of direct-to-consumer genetic information. Ann Rev Genomics Hum Genet. 2010;11:427–446.

  13. 13.

    Peterson E, Chou W-YS, Gaysynsky A, et al. Communication of cancer-related genetic and genomic information: a landscape analysis of reviews. Transl Behav Med. 2018;8:59–70.

  14. 14.

    Epstein RM, Street RL. Patient-centered communication in cancer care: promoting healing and reducing suffering. Bethesda, MD: National Cancer Institute; 2007. P.

  15. 15.

    Arksey H, O’Malley L. Scoping studies: towards a methodological framework. Int J Soc Res Methodol. 2005;8:19–32.

  16. 16.

    Moher D, Liberati A, Tetzlaff J, Altman DG, The PRISMA Group. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med. 2009;6:e1000097.

  17. 17.

    Fleiss J, Levin B, Paik M. Statistical methods for rates and proportions. 3rd ed. New York: John Wiley & Sons; 2003.

  18. 18.

    Aktan-Collan K, Kaariainen H, Jarvinen H, et al. Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study. Fam Cancer. 2013;12:639–646.

  19. 19.

    Agurs-Collins T, Ferrer R, Ottenbacher A, Waters EA, O’Connell ME, Hamilton JG. Public awareness of direct-to-consumer genetic tests: findings from the 2013 U.S. Health Information National Trends Survey. J Cancer Educ. 2015;30:799–807.

  20. 20.

    Alderfer MA, Zelley K, Lindell RB, et al. Parent decision-making around the genetic testing of children for germline TP53 mutations. Cancer. 2015;121:286–293.

  21. 21.

    Thomassen G, Sarangi S. Evidence-based familial risk explanations in cancer genetic counselling. Health Risk Soc. 2012;14:607–626.

  22. 22.

    Vindigni S, Kaz A. Universal screening of colorectal cancers for Lynch syndrome: challenges and opportunities. Dig Dis Sci. 2016;61:969–976.

  23. 23.

    Hampel H. Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer. J Natl Compr Canc Netw. 2010;8:597–601.

  24. 24.

    Provenzale D, Gupta S, Ahnen DJ, et al. Genetic/familial high-risk assessment: colorectal version 1.2016, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2016;14:1010–1030.

  25. 25.

    Slater MD, Long M, Bettinghaus EP, Reineke JB. News coverage of cancer in the United States: a national sample of newspapers, television, and magazines. J Health Commun. 2008;13:523–527.

  26. 26.

    Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol. 2013;31:1267–1270.

  27. 27.

    Society of Gynecologic Oncology. SGO clinical practice statement: next generation cancer gene panels versus gene by gene testing. 2014. Accessed 3 May 2018.

  28. 28.

    Easton DF, Pharoah PDP, Antoniou AC, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med. 2015;372:2243–2257.

  29. 29.

    Wolfe Schneider K, Anguiano A, Axell L, et al. Collaboration of Colorado cancer genetic counselors to integrate next generation sequencing panels into clinical practice. J Genet Couns. 2014;23:640–646.

  30. 30.

    Khoury MJ, Bowen MS, Clyne M, et al. From public health genomics to precision public health: a 20-year journey. Genet Med. 2018;20:574–582.

  31. 31.

    Slavin TP, Niell-Swiller M, Solomon I, et al. Clinical application of multigene panels: challenges of next-generation counseling and cancer risk management. Front Oncol. 2015;5:208.

  32. 32.

    Mills R, Haga SB. Genomic counseling: next generation counseling. J Genet Couns. 2014;23:689–692.

  33. 33.

    US Food and Drug Administration. FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes. 2018. Accessed 7 May 2018.

  34. 34.

    Kaphingst KA, Goodman MS. Importance of race and ethnicity in individuals’ use of and responses to genomic information. Pers Med. 2016;13:1–4.

  35. 35.

    McBride CM, Bowen D, Brody LC, et al. Future health applications of genomics: priorities for communication, behavioral, and social sciences research. Am J Prev Med. 2010;38:561–566.

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Financial support was provided by the National Cancer Institute’s Behavioral Research Program through HHSN261201700078P. We also acknowledge the direct financial support for the research reported in this publication provided by the Huntsman Cancer Foundation. We would like to acknowledge assistance from the Clinical and Translational Science Award (CTSA) Systematic Review Core at the University of Utah. We also thank Courtney Tern and Angela Falisi for their work as coders, and Bradford Hesse and Charlisse Caga-Anan for their invaluable contributions to the study design. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health (NIH).

Author information


  1. Huntsman Cancer Institute, Salt Lake City, UT, USA

    • Kimberly A. Kaphingst ScD
    •  & Jingsong Zhao MPH
  2. Department of Communication, University of Utah, Salt Lake City, UT, USA

    • Kimberly A. Kaphingst ScD
    • , Ashley Elrick MA
    • , Manusheela Pokharel MS
    •  & Chelsea L. Ratcliff MA
  3. National Cancer Institute, Bethesda, MD, USA

    • Emily Peterson PhD
    • , Melinda Krakow PhD
    • , William M. P. Klein PhD
    •  & Wen-Ying Sylvia Chou PhD, MPH
  4. ICF, Rockville, MD, USA

    • Anna Gaysynsky MPH
  5. National University of Singapore, Singapore, Singapore

    • Soo Jung Hong PhD
  6. Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA, USA

    • Muin J. Khoury MD, PhD


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