Abstract
We performed a large outcome study at group and individual level in which the goals of genetic counselling were operationalized into cognitive and affective outcomes: empowerment, perceived personal control and anxiety. We then examined which socio-demographic and clinical variables were associated with changes in these outcomes. Data came from 1479 counselees who completed questionnaires (GCOS-18, PPC and STAI) at three time points: before the start of genetic counselling, after the first consultation and after the results of genetic counselling were disclosed. Results showed that at group level empowerment, perceived personal control and anxiety improved significantly after the whole genetic counselling process. Effect-sizes were medium for empowerment and small for the other outcomes. At individual level, 48% of counselees improved in empowerment, 21% in perceived personal control and 17% in anxiety. Around 10% of counselees worsened on all outcomes. Only ‘reason for referral’ and ‘genetic test result’ were significantly associated with changes in outcomes. This study demonstrated improvements among counselees in cognitive and affective outcomes after genetic counselling at group level. However, our results also suggest that there are opportunities for improvement at individual level, as many counselees remained stable and some even worsened on all outcomes. Routine outcome monitoring could help to explore the needs of counselees and could help to identify counselees who worsen.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Braithwate D, Emery J, Walter F, Prevost AT, Sutton S. Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis. Fam Cancer. 2006;5:61–75.
Madlensky L, Trepanier AM, Cragun D, Lerner B, Shannon KM, Zierhut H. A rapid systematic review of outcomes studies in genetic counseling. J Genet Couns. 2017;26:361–78.
Athens BA, Caldwell SL, Umstead KL, Connors PD, Brenna E, Biesecker BB. A systematic review of randomized controlled trials to assess outcomes of genetic counseling. J Genet Couns. 2017;26:902–33.
Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, et al. A new definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force report. J Genet Couns. 2006;15:77–83.
Bernhardt BA, Biesecker BB, Mastromarino CL. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet. 2000;94:189–97.
Biesecker BB. Goals of genetic counseling. Clin Genet. 2001;60:323–30.
McAllister M, Wood AM, Dunn G, Shiloh S, Todd C. The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services. Clin Genet. 2011;79:413–24.
McAllister M, Dearing A. Patient reported outcomes and patient empowerment in clinical genetics services. Clin Genet. 2015;88:114–21.
Voorwinden JS, Plantinga M, Krijnen W, Ausems M, Knoers N, Velthuizen M, et al. A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale. Eur J Hum Genet. 2019;27:681–90.
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29:1282–91.
Smets EM, Pieterse AH, Aalfs CM, Ausems MG, van Dulmen AM. The Perceived Personal Control (PPC) questionnaire as an outcome of genetic counseling: reliability and validity of the instrument. Am J Med Genet A. 2006;140:843–50.
Van der Bij AK, de Weerd S, Cikot RJ, Steegers EA, Braspenning JC. Validation of the Dutch short form of the state scale of the Spielberger State-Trait Anxiety Inventory: considerations for usage in screening outcomes. Community Genet. 2003;6:84–7.
Annema C, Roodbol PF, Van den Heuvel ER, Metselaar HJ, Van Hoek B, Porte RJ, et al. Trajectories of anxiety and depression in liver transplant candidates during the waiting-list period. Br J Health Psychol. 2017;22:481–501.
Cohen J. Statistical Power Analysis for the Behavioral Sciences. 2nd edn. New York: Academic Press; 1988.
Norman G, Sloan J, Wyrwich K. Interpretation of changes in health-related quality of life: the remarkable universality of half a standard deviation. Med Care. 2003;41:582–92.
Randall J, Butow P, Kirk J, Tucker K. Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer. Intern Med J. 2001;31:397–405.
Otten E, Birnie E, Ranchor AV, van Tintelen JP, van Langen IM. A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation. Eur J Hum Genet. 2015;23:1462–7.
Rothwell E, Kohlmann W, Jasperson K, Gammon A, Wong B, Kinney A. Patient outcomes associated with group and individual genetic counseling formats. Fam Cancer. 2012;11:97–106.
Pasacreta JV. Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: an integrative review. Cancer Invest. 2003;21:588–623.
Eijzenga W, Bleiker EMA, Hahn DEE, Van der Kolk LE, Sidharta GN, Aaronson NK. Prevalence and detection of psychosocial problems in cancer genetic counseling. Fam Cancer. 2015;14:629–36.
Thomas C, McAllister M. Establishing the minimum clinically important difference for the Genetic Counseling Outcome Scale (GCOS-24). J Genet Couns. 2019;28:1003–10.
Eijzenga W, Aaronson NK, Hahn DEE, Sidharta GN, van der Kolk LE, Velthuizen ME, et al. Effect of routine assessment of specific psychosocial problems on personalized communication, counselors’ awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial. J Clin Oncol. 2014;27:2998–3004.
Austin JC. Evidence-based genetic counseling for psychiatric disorders: a road map. Cold Spring Harb Perspect Med. 2019. https://doi.org/10.1101/cshperspect.a036608.
Acknowledgements
We thank all the research assistants for the collection and input of the data. We thank all counselees and genetic counsellors who participated in our study. We thank Kate Mc Intyre for editing our paper.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Voorwinden, J.S., Plantinga, M., Ausems, M. et al. Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary. Eur J Hum Genet 28, 1187–1195 (2020). https://doi.org/10.1038/s41431-020-0629-5
Received:
Revised:
Accepted:
Published:
Version of record:
Issue date:
DOI: https://doi.org/10.1038/s41431-020-0629-5
This article is cited by
-
The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial
European Journal of Human Genetics (2025)
-
What do we do and how do we do it? Assessing genetic counselling in the modern era
European Journal of Human Genetics (2020)
