Journal of Genetic Counseling

, Volume 26, Issue 3, pp 361–378 | Cite as

A Rapid Systematic Review of Outcomes Studies in Genetic Counseling

  • Lisa Madlensky
  • Angela M. Trepanier
  • Deborah Cragun
  • Barbara Lerner
  • Kristen M. Shannon
  • Heather Zierhut
Review Paper


As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.


Genetic counseling Outcomes Review 



Support for Deborah Cragun’s time was provided by a NCI R25T training grant awarded to Moffitt Cancer Center (5R25CA147832-04). The authors thank Eliza Jeong for assistance with formatting.

This manuscript was unfunded work completed as part of the National Society of Genetic Counselors Outcomes work group. We would like to thank NSGC leadership for helping to formulate the working group’s study inclusion criteria for this review and for providing comments on an earlier draft of this manuscript.

Compliance with Ethical Standards

Conflicts of Interest

Lisa Madlensky, Angela M. Trepanier, Deborah Cragun, Barbara Lerner, Kristen M. Shannon and Heather Zierhut declare that they have no conflict of interest.

Human Studies and Informed Consent

No human studies were carried out by the authors for this article.

Animal Studies

No animal studies were carried out by the authors for this article.


  1. Austin, J. C., & Honer, W. G. (2008). Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: a pilot study. Early Intervention in Psychiatry, 2(2), 80–89.CrossRefPubMedGoogle Scholar
  2. Baldwin, E. E., Boudreault, P., Fox, M., Sinsheimer, J. S., & Palmer, C. G. S. (2012). Effect of pre-test genetic counseling for deaf adults on knowledge of genetic testing. Journal of Genetic Counseling, 21(2), 256–272.CrossRefPubMedGoogle Scholar
  3. Berkenstadt, M., Shiloh, S., Barkai, G., Katznelson, M. B. M., & Goldman, B. (1999). Perceived personal control (PPC): a new concept in measuring outcome of genetic counseling. American Journal of Medical Genetics, 82(1), 53–59.CrossRefPubMedGoogle Scholar
  4. Bowen, D. J., Burke, W., Yasui, Y., McTiernan, A., & McLeran, D. (2002). Effects of risk counseling on interest in breast cancer genetic testing for lower risk women. Genetics in Medicine, 4(5), 359–365.CrossRefPubMedGoogle Scholar
  5. Burke, W., Culver, J. O., Bowen, D., Lowry, D., Durfy, S., McTiernan, A., et al. (2000). Genetic counseling for women with an intermediate family history of breast cancer. American Journal of Medical Genetics, 90(5), 361–368.CrossRefPubMedGoogle Scholar
  6. Cabrera, E., Blanco, I., Yague, C., & Zabalegui, A. (2010). The impact of genetic counseling on knowledge and emotional responses in Spanish population with family history of breast cancer. Patient Education and Counseling, 78(3), 382–388.CrossRefPubMedGoogle Scholar
  7. Cavanagh, L., Compton, C. J., Tluczek, A., Brown, R. L., & Farrell, P. M. (2010). Long-term evaluation of genetic counseling following false-positive newborn screen for cystic fibrosis. Journal of Genetic Counseling, 19(2), 199–210.CrossRefPubMedPubMedCentralGoogle Scholar
  8. Cheuvront, B., Sorenson, J. R., Callanan, N. P., Stearns, S. C., & DeVellis, B. M. (1998). Psychosocial and educational outcomes associated with home- and clinic-based pretest education and cystic fibrosis carrier testing among a population of at-risk relatives. American Journal of Medical Genetics, 75(5), 461–468.CrossRefPubMedGoogle Scholar
  9. Christie, J., Quinn, G. P., Malo, T., Lee, J.-H., Zhao, X., McIntyre, J., et al. (2012). Cognitive and psychological impact of BRCA genetic counseling in before and after definitive surgery breast cancer patients. Annals of Surgical Oncology, 19(13), 4003–4011.CrossRefPubMedGoogle Scholar
  10. Ciske, D. J., Haavisto, A., Laxova, A., Rock, L. Z., & Farrell, P. M. (2001). Genetic counseling and neonatal screening for cystic fibrosis: an assessment of the communication process. Pediatrics, 107(4), 699–705.CrossRefPubMedGoogle Scholar
  11. Ganann, R., Ciliska, D., & Thomas, H. (2010). Expediting systematic reviews: methods and implications of rapid reviews. Implementation Science, 5, 56.CrossRefPubMedPubMedCentralGoogle Scholar
  12. Grant, R. W., O’Brien, K. E., Waxler, J. L., Vassy, J. L., Delahanty, L. M., Bissett, L. G., et al. (2013). Personalized genetic risk counseling to motivate diabetes prevention: a randomized trial. Diabetes Care, 36(1), 13–19.CrossRefPubMedGoogle Scholar
  13. Green, M. J., Biesecker, B. B., McInerney, A. M., Mauger, D., & Fost, N. (2001). An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. American Journal of Medical Genetics, 103(1), 16–23.CrossRefPubMedGoogle Scholar
  14. Green, M. J., Peterson, S. K., Baker, M. W., Harper, G. R., Friedman, L. C., Rubinstein, W. S., et al. (2004). Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility—a randomized controlled trial. Jama-Journal of the American Medical Association, 292(4), 442–452.CrossRefGoogle Scholar
  15. Halbert, C. H., Kessler, L., Collier, A., Weathers, B., Stopfer, J., Domchek, S., et al. (2012). Low rates of African American participation in genetic counseling and testing for BRCA1/2 mutations: racial disparities or just a difference? Journal of Genetic Counseling, 21(5), 676–683.CrossRefPubMedPubMedCentralGoogle Scholar
  16. Hippman, C., Ringrose, A., Inglis, A., Cheek, J., Albert, A. Y., Remick, R., & Honer, W. G. (2016). Austin JC A pilot randomized clinical trial evaluating the impact of genetic counseling for serious mental illnesses. Journal of Clinical Psychiatry, 77(2), e190–8.CrossRefPubMedPubMedCentralGoogle Scholar
  17. Holmes-Rovner, M., Kroll, J., Schmitt, N., Rovner, D.R., Breer, M. L., Rothert, M. L., Padonu, G., Talarczyk, G. (1996). Patient satisfaction with health care decisions: the satisfaction with decision scale. Medical Decision Making, 16(1), 58–64.Google Scholar
  18. Hunter, A. G. W., Cappelli, M., Humphreys, L., Allanson, J. E., Chiu, T. T., Peeters, C., et al. (2005). A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients. Clinical Genetics, 67(4), 303–313.CrossRefPubMedGoogle Scholar
  19. Kinney, A. Y., Boonyasiriwat, W., Walters, S. T., Pappas, L. M., Stroup, A. M., Schwartz, M. D., Edwards, S. L., Rogers, A., Kohlmann, W. K., Boucher, K. M., Vernon, S. W., Simmons, R. G., Lowery, J. T., Flores, K., Wiggins, C. L., Hill, D. A., Burt, R. W., Williams, M. S., & Higginbotham, J. C. (2014). Telehealth personalized cancer risk communication to motivate colonoscopy in relatives of patients with colorectal cancer: the family CARE Randomized controlled trial. Journal of Clinical Oncology, 32(7), 654–62.CrossRefPubMedPubMedCentralGoogle Scholar
  20. Lerman, C., Schwartz, MD., Miller, SM., Daly, M., Sands, C., Rimer, BK. (1996). A randomized trial of breast cancer risk counseling: Interacting effects of counseling, educational level, and coping style. Health Psychology, 15(2), 75–83.Google Scholar
  21. MacDonald, D. J., Sarna, L., van Servellen, G., Bastani, R., Giger, J. N., & Weitzel, J. N. (2007). Selection of family members for communication of cancer risk and barriers to this communication before and after genetic cancer risk assessment. Genetics in Medicine, 9(5), 275–282.CrossRefPubMedGoogle Scholar
  22. McAllister, M., & Dearing, A. (2015). Patient reported outcomes and patient empowerment in clinical genetics services. Clinical Genetics, 88(2), 114–121.CrossRefPubMedGoogle Scholar
  23. McAllister, M., Wood, A. M., Dunn, G., Shiloh, S., & Todd, C. (2011). The genetic counseling outcome scale: a new patient-reported outcome measure for clinical genetics services. Clinical Genetics, 79(5), 413–424.CrossRefPubMedGoogle Scholar
  24. McInerney-Leo, A., Biesecker, B. B., Hadley, D. W., Kase, R. G., Giambarresi, T. R., Johnson, E., Lerman, C., & Struewing, J. P. (2004). BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. American Journal of Medical Genetics, 130A, 221–227.CrossRefPubMedGoogle Scholar
  25. McInerney-Leo, A., Biesecker, B. B., Hadley, D. W., Kase, R. G., Giambarresi, T. R., Johnson, E., et al. (2005). BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships. American Journal of Medical Genetics Part A, 133A(2), 165–169.CrossRefPubMedGoogle Scholar
  26. McInerney-Leo, A., Hadley, D., Kase, R. G., Giambarresi, T. R., Struewing, J. P., & Biesecker, B. B. (2006). BRCA1/2 testing in hereditary breast and ovarian cancer families III: risk perception and screening. American Journal of Medical Genetics Part A, 140(20), 2198–206.CrossRefPubMedGoogle Scholar
  27. Meiser, B., Butow, P. N., Barratt, A. L., Schnieden, V., Gattas, M., Kirk, J., et al. (2001). Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer. Patient Education and Counseling, 44(3), 215–225.CrossRefPubMedGoogle Scholar
  28. National Society of Genetic Counselors 2014 Professional Status Survey. (2014).Google Scholar
  29. National Society of Genetic Counselors Code of Ethics. (2006). Retrieved Aug. 8, 2015, from
  30. Pal, T., Stowe, C., Cole, A., Lee, J. H., Zhao, X., & Vadaparampil, S. (2010). Evaluation of phone-based genetic counselling in African American women using culturally tailored visual aids. Clinical Genetics, 78(2), 124–131.CrossRefPubMedGoogle Scholar
  31. Palmer, C. G., Boudreault, P., Baldwin, E. E., Sinsheimer, J. S. (2014). Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study. PLoS One, 9(11), e111512. doi:  10.1371/journal.pone.0111512.
  32. Pieterse, A. H., Ausems, M. G. E. M., Spreeuwenberg, P., & van Dulmen, S. (2011). Longer-term influence of breast cancer genetic counseling on cognitions and distress: smaller benefits for affected versus unaffected women. Patient Education and Counseling, 85(3), 425–431.CrossRefPubMedGoogle Scholar
  33. Practice Based Competencies for Genetic Counselors. (2013). Retrieved 8-8-2015, from
  34. Randall, J., Butow, P., Kirk, J., & Tucker, K. (2001). Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer. Internal Medicine Journal, 31(7), 397–405.CrossRefPubMedGoogle Scholar
  35. Rutherford, S., Zhang, X., Atzinger, C., Ruschman, J., & Myers, M. F. (2014). Medical management adherence as an outcome of genetic counseling in a pediatric setting. Genetics in Medicine, 16(2), 157–163.CrossRefPubMedGoogle Scholar
  36. Shiloh, S., Avdor, O., & Goodman, R. M. (1990). Satisfaction with genetic counseling: dimensions and measurement. American Journal of Medical Genetics, 37(4), 522–529.CrossRefPubMedGoogle Scholar
  37. Silvey, K., Stock, J., Hasegawa, L. E., & Au, S. M. (2009). Outcomes of genetics services: creating an inclusive definition and outcomes menu for public health and clinical genetics services. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 151C(3), 207–213.CrossRefGoogle Scholar
  38. Taylor, J. Y., & Wu, C. Y. (2009). Effects of genetic counseling for hypertension on changes in lifestyle behaviors among African-American women. Journal of National Black Nurses’ Association : JNBNA, 20(1), 1–10.PubMedPubMedCentralGoogle Scholar
  39. Working Group of the American College of Medical Genetics: competencies for the physician medical geneticist in the 21st century. (2011).Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  • Lisa Madlensky
    • 1
  • Angela M. Trepanier
    • 2
  • Deborah Cragun
    • 3
    • 4
  • Barbara Lerner
    • 5
  • Kristen M. Shannon
    • 6
  • Heather Zierhut
    • 7
  1. 1.Moores UCSD Cancer CenterUniversity of California San DiegoLa JollaUSA
  2. 2.Center for Molecular Medicine and GeneticsWayne State UniversityDetroitUSA
  3. 3.Department of Global HealthUniversity of South FloridaTampaUSA
  4. 4.Department of Cancer EpidemiologyH. Lee Moffitt Cancer Center and Research InstituteTampaUSA
  5. 5.Center for Healthcare Organization and Implementation ResearchVA Boston Healthcare SystemBostonUSA
  6. 6.Mass General Cancer CenterMass General HospitalBostonUSA
  7. 7.Department of Genetics, Cell Biology, and DevelopmentUniversity of Minnesota - Twin CitiesMinneapolisUSA

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