Journal of Genetic Counseling

, Volume 25, Issue 5, pp 855–867 | Cite as

Balancing Genetics (Science) and Counseling (Art) in Prenatal Chromosomal Microarray Testing

  • Allison Werner-Lin
  • Judith L. M. McCoyd
  • Barbara A. Bernhardt
Professional Issues


Genetic counselors frequently are called upon to assist patients in understanding the implications of prenatal testing information for their pregnancies and their family’s lives. The introduction of highly sensitive testing such as chromosomal microarray has generated additional kinds of uncertainty into the prenatal period. Counselors may feel uncomfortable or inadequately prepared to engage in discussions with prospective parents who are faced with making critical, and timely, decisions about a pregnancy based on uncertain information. As highly sensitive prenatal testing becomes routine in prenatal care, counselors may be in search of approaches to prenatal counseling, as well as specific skills to approach, engage with, and help families find resolution in such challenging circumstances. To assist genetic counselors, we describe practice skills and provide language for approaching conversations with prospective parents. When clinicians regularly provide care to patients and families making life-altering decisions under conditions of significant uncertainty, discomfort is common and compassion fatigue is likely. We make recommendations directly to the genetic counselor working in reproductive and perinatal settings to enhance training and self-care and to decrease discomfort in balancing the scientific- and art- demands of genetic counseling.


Genetic counseling Uncertainty Prenatal testing Microarray Professional development 


Compliance with Ethical Standards

Conflict of Interest

Allison Werner-Lin, Judith L. M. McCoyd and Barbara A. Bernhardt declare that they have no conflict of interest.


  1. Austin, J., Semaka, A., & Hadjipavlou, G. (2014). Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. Journal of Genetic Counseling, 23(6), 903–909. doi: 10.1007/s10897-014-9728-1.CrossRefPubMedPubMedCentralGoogle Scholar
  2. Bachelor, A. (1995). Clients’ perception of the therapeutic alliance: A qualitative analysis. Journal of Counseling Psychology, 42, 323–327. doi: 10.1037/0022-0167.42.3.323.CrossRefGoogle Scholar
  3. Benoit, L. G., Veach, P. M., & LeRoy, B. S. (2007). When you care enough to do your very best: Genetic counselor experiences of compassion fatigue. Journal of Genetic Counseling, 16(3), 299–312. doi: 10.1007/s10897-006-9072-1.CrossRefPubMedGoogle Scholar
  4. Bernhardt, B. (2014). Genetic counselors and the future of clinical genomics. Genome Medicine, 6(7), 48–51.CrossRefGoogle Scholar
  5. Bernhardt, B. A., Rushton, C. H., Carrese, J., Pyeritz, R. E., Kolodner, K., & Geller, G. (2009). Distress and burnout among genetic service providers. Genetics in Medicine, 11(7), 527–535. doi: 10.1097/GIM.0b013e3181a6a1c2.CrossRefPubMedPubMedCentralGoogle Scholar
  6. Bernhardt, B. A., Silver, R., Rushton, C. H., Micco, E., & Geller, G. (2010). What keeps you up at night? Genetics professionals’ distressing experiences in patient care. Genetics in Medicine, 12(5), 289–297. doi: 10.1097/GIM.0b013e3181db82d9.CrossRefPubMedGoogle Scholar
  7. Bernhardt, B. A., Soucier, D., Hanson, K., Savage, M. S., Jackson, L., & Wapner, R. J. (2012). Women’s experiences receiving abnormal prenatal chromosomal microarray testing results. Genetics in Medicine, 15(2), 139–145. doi: 10.1038/gim.2012.113.CrossRefPubMedGoogle Scholar
  8. Bernhardt, B. A., Kellom, K., Barbarese, A., Faucett, W. A., & Wapner, R. J. (2014). An exploration of genetic counselors’ needs and experiences with prenatal chromosomal microarray testing. Journal of Genetic Counseling, 23(6), 938–947. doi: 10.1007/s10897-014-9702-y.CrossRefPubMedPubMedCentralGoogle Scholar
  9. Blais, A. R., & Weber, E. U. (2006). A Domain-Specific Risk-Taking (DOSPERT) scale for adult populations. Judgment and Decision Making, 1, 33–47. doi: 10.1002/bdm.414.Google Scholar
  10. Cohen, S., & Wills, T. A. (1985). Stress, social support and the buffering hypothesis. Psychological Bulletin, 98(2), 310–357.CrossRefPubMedGoogle Scholar
  11. Djurdjinovic, L. (2009). Psychosocial counseling. In W. Uhlmann, J. Schuette, & B. Yashar (Eds.), A guide to genetic counseling (2nd ed.). Wiley.Google Scholar
  12. Doka, K. J. (Ed.) (2002). Disenfranchised grief: New directions, challenges and strategies for practice. Champaign: Research Press.Google Scholar
  13. Duric, V., Butow, P., Sharpe, L., Lobb, E., Mesier, B., Barratt, A., et al. (2003). Reducing psychological distress in a genetic counseling consultation for breast cancer. Journal of Genetic Counseling, 12, 243–264. doi: 10.1023/A:1023284219871.CrossRefPubMedGoogle Scholar
  14. Epstein, R. M., & Gramling, R. E. (2013). What is shared in shared decision making? Complex decisions when the evidence is unclear. Medical Care Research and Review, 70(1 suppl), 94S–112S. doi: 10.1177/1077558712459216.CrossRefPubMedGoogle Scholar
  15. Etchegary, H., Potter, B., Howley, H., Cappelli, M., Coyle, D., Graham, I., et al. (2008). The influence of experiential knowledge on prenatal screening and testing decisions. Genetic Testing, 12(1), 115–124. doi: 10.1089/gte.2007.0057.CrossRefPubMedGoogle Scholar
  16. Eunpu, D. L. (1997). Systemically-based psychotherapeutic techniques in genetic counseling. Journal of Genetic Counseling, 6(1), 1–20. doi: 10.1023/A:1025630917735.CrossRefPubMedGoogle Scholar
  17. Farrell, R. M., Nutter, B., & Agatisa, P. K. (2015). Patient-centered prenatal counseling: Aligning obstetric healthcare professionals with needs of pregnant women. Women & Health, 55(3), 280–296. doi: 10.1080/03630242.2014.996724.CrossRefGoogle Scholar
  18. Farrelly, E., Cho, M. K., Erby, L., Roter, D., Stenzel, A., & Ormond, K. (2012). Genetic counseling for prenatal testing: where is the discussion about disability? Journal of Genetic Counseling, 21(6), 814–824. doi: 10.1007/s10897-012-9534-6.CrossRefPubMedGoogle Scholar
  19. Gelso, C., & Carter, J. (1994). Components of the psychotherapy relationship: Their interaction and unfolding during treatment. Journal of Counseling Psychology, 41(3), 296–306. doi: 10.1037/0022-0167.41.3.296.CrossRefGoogle Scholar
  20. Han, P. K. (2013). Conceptual, methodological, and ethical problems in communicating uncertainty in clinical evidence. Medical Care Research and Review, 70(1 suppl), 14S–36S. doi: 10.1177/1077558712459361.CrossRefPubMedGoogle Scholar
  21. Han, P. K., Klein, W. M., & Arora, N. K. (2011). Varieties of uncertainty in health care a conceptual taxonomy. Medical Decision Making, 31(6), 828–838. doi: 10.1177/0272989X11393976.CrossRefPubMedPubMedCentralGoogle Scholar
  22. Hiller, E., & Rosenfield, J. M. (2000). The experience of leader-led peer supervision: Genetic counselors’ perspectives. Journal of Genetic Counseling, 9(5), 399–410. doi: 10.1023/A:1009402231506.CrossRefPubMedGoogle Scholar
  23. Hillman, S. C., Skelton, J., Quinlan-Jones, E., Wilson, A., & Kilby, M. D. (2013). “If it helps…” the use of microarray technology in prenatal testing: Patient and partners reflections. American Journal of Medical Genetics Part A, 161(7), 1619–1627. doi: 10.1002/ajmg.a.35981.CrossRefGoogle Scholar
  24. Hunt, L. M., de Voogd, K. B., & Castañeda, H. (2005). The routine and the traumatic in prenatal genetic diagnosis: Does clinical information inform patient decision-making? Patient Education and Counseling, 56(3), 302–312. doi: 10.1016/j.pec.2004.03.004.CrossRefPubMedGoogle Scholar
  25. Kahneman, D., Slovic, P., & Tversky, A. (1982). Judgment under uncertainty: Heuristics and biases. New York: Cambridge University Press.CrossRefGoogle Scholar
  26. Kennedy, A. L. (2000). A leader-led supervision group as a model for practicing genetic counselors. Journal of Genetic Counseling, 9(5), 391–397. doi: 10.1023/A:1009450114667.CrossRefPubMedGoogle Scholar
  27. Kessler, S. (2001). Psychological aspects of genetic counseling. XIV. Nondirectiveness and counseling skills. Genetic Testing, 5(3), 187–191.CrossRefPubMedGoogle Scholar
  28. Kubler-Ross, E. (1969). On death and dying. New York: Macmillan.Google Scholar
  29. Lambert, M. J., & Barley, D. E. (2002). Research summary on the therapeutic relationship and psychotherapy outcome. In J. C. Norcross (Ed.), Psychotherapy relationships that work (pp. 17–32). New York: Oxford University Press.Google Scholar
  30. Lobel, M., Dias, L., & Meyer, B. A. (2005). Distress associated with prenatal screening for fetal abnormality. Journal of Behavioral Medicine, 28, 65–76. doi: 10.1007/s10865-005-2564-x.CrossRefPubMedGoogle Scholar
  31. Marks, J. H. (1993). The training of genetic counselors: Origins of a psychosocial model. In D. M. Bartels, B. S. LeRoy, & A. L. Caplan (Eds.), Prescribing our future: Ethical challenges in genetic counseling (pp. 15–24). New York: Aldine de Gruyter.Google Scholar
  32. Martin, C. L., Kirkpatrick, B. E., & Ledbetter, D. H. (2015). Copy number variants, aneuploidies, and human disease. Clinics in Perinatology, 42(2), 227–242. doi: 10.1016/j.clp.2015.03.001.CrossRefPubMedPubMedCentralGoogle Scholar
  33. Mathieu, F. (2007). Transforming compassion fatigue into compassion satisfaction: Top 12 self-care tips for helpers. Retrieved from
  34. McCoyd, J. L. M. (2008). “I’m not a saint”: burden assessment as an unrecognized factor in prenatal decision making. Qualitative Health Research, 18(11), 1489–1500. doi: 10.1177/1049732308325642.CrossRefPubMedGoogle Scholar
  35. McCoyd, J. L. M. (2013). Preparation for prenatal decision-making: a baseline of knowledge and reflection in women participating in prenatal screening. Journal of Psychosomatic Obstetrics and Gynecology, 34(1), 3–8. doi: 10.3109/0167482X.2012.757590.CrossRefPubMedGoogle Scholar
  36. McCoyd, J. L. M. (2015). Critical aspects of decision-making and grieving after diagnosis of fetal anomaly. In M. S. Verp & J. P. Galst (Eds.), Prenatal and preimplantation diagnosis: The burden of choice (pp. 269–285). New York: Springer.CrossRefGoogle Scholar
  37. McCoyd, J. L. M., & Walter, C. A. (2016). Grief and loss across the lifespan: A biopsychosocial approach (2nd ed.). New York: Springer Publishing.Google Scholar
  38. McDaniel, S. H. (2005). The psychotherapy of genetics. Family Process, 44(1), 25–44. doi: 10.1111/j.1545-5300.2005.00040.x.CrossRefPubMedGoogle Scholar
  39. Meiser, B., Irle, J., Lobb, E., & Barlow-Stewart, K. (2008). Assessment of the content and process of genetic counseling: A critical review of empirical studies. Journal of Genetic Counseling, 17(5), 434–451. doi: 10.1007/s10897-008-9173-0.CrossRefPubMedGoogle Scholar
  40. Neimeyer, R. A. (2001). Meaning reconstruction & the meaning of loss. Washington, D.C.: American Psychological Association.Google Scholar
  41. Parker, A. M., Bruine de Bruin, W., & Fischhoff, B. (2007). Maximizers versus satisficers: Decision-making styles, competence, and outcomes. Judgment and Decision Making, 2(6), 342–350.Google Scholar
  42. Pauker, S. P., & Pauker, S. G. (1977). Prenatal diagnosis: A directive approach to genetic counseling using decision analysis. The Yale Journal of Biology and Medicine, 50(3), 275.PubMedPubMedCentralGoogle Scholar
  43. Peterson, N. A., Hamme, C. L., & Speer, P. W. (2002). Cognitive empowerment of African Americans and Caucasians: differences in understandings of power, political functioning, and shaping ideology. Journal of Black Studies, 3, 336–351.CrossRefGoogle Scholar
  44. Politi, M. C., & Street, R. L. (2011). The importance of communication in collaborative decision making: Facilitating shared mind and the management of uncertainty. Journal of Evaluation in Clinical Practice, 17(4), 579–584. doi: 10.1111/j.1365-2753.2010.01549.x.CrossRefPubMedGoogle Scholar
  45. Redlinger-Grosse, K. (2014). It is time: a commentary on “an exploration of genetic counselors’ needs and experiences with prenatal chromosomal microarray testing”. Journal of Genetic Counseling, 23(6), 933–934. doi: 10.1007/s10897-014-9726-3.CrossRefPubMedGoogle Scholar
  46. Reed, S. (1974). A short history of genetic counseling. Social Biology, 21(4), 332–339.CrossRefPubMedGoogle Scholar
  47. Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Estabrooks Hahn, S., Strecker, M. N., et al. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. Journal of Genetic Counseling, 15(2), 77–83. doi: 10.1007/s10897-005-9014-3.CrossRefPubMedGoogle Scholar
  48. Rogers, C. R. (1957). The necessary and sufficient conditions of therapeutic personality change. Journal of Consulting Psychology, 21, 95–103. doi: 10.1037/h0045357.CrossRefPubMedGoogle Scholar
  49. Roter, D. L., Erby, L., Larson, S., & Ellington, L. (2009). Oral literacy demand of prenatal genetic counseling dialogue: Predictors of learning. Patient Education and Counseling, 75(3), 392–397. doi: 10.1016/j.pec.2009.01.005.CrossRefPubMedGoogle Scholar
  50. Rubel, M., Werner-Lin, A., Barg, F., Kellom, K. & Bernhardt, B. (2015). Expert knowledge influences decision-making for couples receiving positive prenatal chromosomal microarray testing results. Chicago, IL: Podium presentation. Annual meeting, American Public Health Association.Google Scholar
  51. Saleebey, D. (Ed.) (2006). The strengths perspective in social work practice (4th ed.). Boston: Pearson Education.Google Scholar
  52. Schwartz, B. (2004). The paradox of choice: Why less is more. New York: Harper Perennial.Google Scholar
  53. Schwartz, B., Ward, A., Monterosso, J., Lyubomirsky, S., White, K., & Lehman, D. R. (2002). Maximizing versus satisficing: Happiness is a matter of choice. Journal of Personality and Social Psychology, 83, 1178–1197.CrossRefPubMedGoogle Scholar
  54. Stern, A. M. (2009). A quiet revolution: The birth of the genetic counselor at Sarah Lawrence College, 1969. Journal of Genetic Counseling, 18(1), 1–11. doi: 10.1007/s10897-008-9186-8.CrossRefPubMedGoogle Scholar
  55. Taylor-Brown, S., & Johnson, A. M. (1998). Social work’s role in genetic services. Washington, DC: National Association of Social Workers.Google Scholar
  56. Veach, P. M., Bartels, D. M., & LeRoy, B. S. (2007). Coming full circle: A reciprocal-engagement model of genetic counseling practice. Journal of Genetic Counseling, 16, 713–728. doi: 10.1007/s10897-007-9113-4.CrossRefPubMedGoogle Scholar
  57. Walser, S. A., Kellom, K. S., Palmer, S. C., & Bernhardt, B. A. (2015). Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing. Prenatal Diagnosis, 35(9), 870–878. doi: 10.1002/pd.4624.CrossRefPubMedPubMedCentralGoogle Scholar
  58. Walser, S. A., Werner-Lin, A., Russell, A., Wapner, R. J., & Bernhardt, B. A. (2016). “Something extra on Chromosome 5”: parents’ understanding of positive prenatal Chromosomal Microarray Analysis (CMA) results. Journal of Genetic Counseling, 1–11. doi: 10.1007/s10897-016-9943-z.
  59. Wampold, B. E. (2010). Research evidence for common factors models: A historically situated perspective. In B. L. Duncan, S. D. Miller, B. E. Wampold, & M. A. Hubble (Eds.), The heart & soul of change (2nd ed.). Washington, DC: APA Press.Google Scholar
  60. Weber, E. U., Blais, A.-R., & Betz, N. (2002). A domain-specific risk-attitude scale: Measuring risk perceptions and risk behaviors. Journal of Behavioral Decision Making, 15, 263–290.CrossRefGoogle Scholar
  61. Werner-Lin, A., Barg, F. K., Kellom, K. S., Stumm, K. J., Pilchman, L., Tomlinson, A. N., et al. (2015). Couple’s narratives of communion and isolation following abnormal prenatal microarray testing results. Qualitative Health Research, 22(12), 1–13. doi: 10.1177/1049732315603367.Google Scholar
  62. Westerfield, L., Darilek, S., & van den Veyver, I. B. (2014). Counseling challenges with variants of uncertain significance and incidental findings in prenatal genetic screening and diagnosis. Journal of Clinical Medicine, 3(3), 1018–1032. doi: 10.3390/jcm3031018.CrossRefPubMedPubMedCentralGoogle Scholar
  63. White, R. J. (2005). A priming/temperament model of System 1 and System 2 decision-making processes. Dissertation Abstracts International: Section B: The Sciences and Engineering, 66(6-B), 3439.Google Scholar
  64. Winnicott, D. W. (1960). The theory of the parent-infant relationship. International Journal of Psychoanalysis, 41(6), 585–595 Accessed at Scholar
  65. Winterbottom, A., Bekker, H. L., Conner, M., & Mooney, A. (2008). Does narrative information bias individual’s decision making? A systematic review. Social Science & Medicine, 67(12), 2079–2088. doi: 10.1016/j.socscimed.2008.09.037.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Allison Werner-Lin
    • 1
  • Judith L. M. McCoyd
    • 2
  • Barbara A. Bernhardt
    • 3
  1. 1.School of Social Policy and PracticeUniversity of PennsylvaniaPhiladelphiaUSA
  2. 2.School of Social WorkRutgers: The State University of New JerseyNew BrunswickUSA
  3. 3.Translational Medicine and Medical GeneticsHospital of the University of PennsylvaniaPhiladelphiaUSA

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