Genetic Counselling Services: Outcomes

Heather Skirton, University of Plymouth, Plymouth, UK

Published online: December 2009

DOI: 10.1002/9780470015902.a0005623.pub2

Outcome studies of genetic services have been undertaken for several decades, but defining outcomes measures that are relevant to this type of service has been challenging. Measures have included client retention of information (including the risk assessment), reproductive behaviour, psychological change and satisfaction. However, some of these outcomes, such as reproductive behaviour are inappropriate for assessment of a genetic service, and others, such as retention of recurrence risk information, appear to be less relevant to the client than to professionals. Resolution of uncertainty and changes in perception of personal control have been highlighted as aspects of the process of genetic counselling that significantly influence the outcome for the client. However, some studies have highlighted a potentially serious mismatch between the client's agenda and that of the service provider. There is a need for further collaborative work with clients to ensure that outcomes that are relevant and measurable are developed.

Key concepts:

  • Health services should be assessed to enable improvements to be made and to ensure that provision of the service is effective and that they meet the needs of service users.
  • Clinical genetic services should be assessed using relevant outcome measures.
  • The service user's retention of recurrence risk information has been used as an outcome measure, but may not be as important to service users as to professionals.
  • Change in reproductive behaviour is not a viable outcome measure for clinical genetic services.
  • Patient satisfaction surveys are not sufficient in themselves as outcome measures, but may contribute to the overall assessment of services.
  • Service users report changes in their psychological state, such as ‘peace of mind’, as a benefit of using genetic services.
  • Psychological change in the client is relevant as an outcome measure, but finding appropriate psychometric tools to assess these changes is challenging.
  • There is evidence that there may be a mismatch between what service users require and what professionals provide.
  • Development of usable outcome measures for genetic services requires input from all relevant stakeholders.
  • Further work is still required to develop suitable outcome measure tools for genetic services.

Keywords: genetic counselling; outcomes; decision-making; psychosocial support; psychological adaptation; personal control

 References
    Abramovsky I, Godmilow L, Hirschhorn K and Smith H (1980) Analysis of a follow-up study of genetic counseling. Clinical Genetics 17: 1–12.
    Berkenstadt M, Shiloh S, Barkai G, Katznelson MB-M and Goldman B (1999) Perceived personal control (PPC): a new concept in measuring outcome of genetic counseling. American Journal of Medical Genetics 82: 53–59.
    Ciarleglio LJ, Bennett RL, Williamson J, Mandell JB and Marks JH (2003) Genetic counseling throughout the life cycle. Journal of Clinical Investigation 112(9): 1280–1286.
    D'Amico R, Jacopini G, Vivona G and Frontali M (1992) Reproductive choices in couples at risk for genetic disease: a qualitative and quantitative analysis. Birth Defects: Original Article Series 28: 41–46.
    Dougall AL, Smith AW, Somers TJ et al. (2009) Coping with genetic testing for breast cancer susceptibility. Psychosomatic Medicine 71(1): 98–105.
    Edwards A, Gray J, Clarke A et al. (2008) Interventions to improve risk communication in clinical genetics: systematic review. Patient Education and Counseling 71(1): 4–25.
    Frets PG, Duivenvoorden HJ, Verhage F et al. (1990) Factors influencing the reproductive decision after genetic counseling. American Journal of Medical Genetics 35: 496–502.
    Gaff CL, Clarke AJ, Atkinson P et al. (2007) Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics 15(10): 999–1011.
    Hallowell N and Richards MPM (1997) Understanding life's lottery: an evaluation of studies of genetic risk awareness. Journal of Health Psychology 2: 31–43.
    Kasparian NA, Wakefield CE and Meiser B (2007) Assessment of psychosocial outcomes in genetic counseling research: an overview of available measurement scales. Journal of Genetic Counseling 16(6): 693–712.
    Keller M, Jost R, Haunstetter CM et al. (2008) Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members. Clinical Genetics 74(5): 414–424.
    Kessler S (1989) Psychological aspects of genetic counseling. VI. A critical review of the literature dealing with education and reproduction. American Journal of Medical Genetics 34: 340–353.
    Kessler S (1992) Process issues in genetic counseling. Birth Defects: Original Article Series 28: 1–10.
    Leonard CO, Chase GA and Childs B (1972) Genetic counseling: a consumers view. New England Journal of Medicine 287: 433–439.
    Lippman-Hand A and Fraser FC (1979a) Genetic counseling: provision and reception of information. American Journal of Medical Genetics 3: 113–127.
    Lippman-Hand A and Fraser FC (1979b) Genetic counseling: the postcounseling period. 1. Parents’ perceptions of uncertainty. American Journal of Medical Genetics 4: 51–71.
    McAllister M, Payne K, Macleod R et al. (2008) Patient empowerment in clinical genetics services. Journal of Health Psychology 13(7): 895–905.
    Meilleur KG and Littleton-Kearney MT (2009) Interventions to improve patient education regarding multifactorial genetic conditions: a systematic review. American Journal of Medical Genetics 149A(4): 819–830.
    Meiser B, Irle J, Lobb E and Barlow-Stewart K (2008) Assessment of the content and process of genetic counselling: a critical review of empirical studies. Journal of Genetic Counseling 17(5): 434–451.
    Reynolds BD, Puck MH and Robinson A (1974) Genetic counseling: an appraisal. Clinical Genetics 5: 177–187.
    Rona RJ, Beech R, Mandalia S et al. (1994) The influence of genetic counseling in the era of DNA testing on knowledge, reproductive intentions and psychological well-being. Clinical Genetics 46: 198–204.
    Shiloh S, Avdor O and Goodman RM (1990) Satisfaction with genetic counseling: dimensions and measurement. American Journal of Medical Genetics 37: 522–529.
    Shiloh S, Gerad L and Goldman B (2006) Patients’ information needs and decision-making processes: what can be learned from genetic counselees? Health Psychology 25(2): 211–219.
    Skirton H (2001) The client's perspective of genetic counseling – a grounded theory study. Journal of Genetic Counseling 10(4): 311–329.
    Skirton H, Parsons EP and Ewings P (2005) Development of an audit tool for genetic services. American Journal of Medical Genetics 136(2): 122–127.
    Smerecnik CM, Mesters I, Verweij E, de Vries NK and de Vries H (2009) A systematic review of the impact of genetic counseling on risk perception accuracy. Journal of Genetic Counseling 18(3): 217–228.
 Further Reading
    book Harper PS and Clarke AJ (1997) Genetics, Society and Clinical Practice. Oxford: Bios Scientific Publishers.
    McCarthy Veach P, Truesdell SE, LeRoy BS and Bartels DM (1999) Client perceptions of the impact of genetic counseling: an exploratory study. Journal of Genetic Counseling 8: 191–216.
    Michie S, Marteau TM and Bobrow M (1997) Genetic counseling: the psychological impact of meeting patients’ expectations. Journal of Medical Genetics 34: 237–241.
    Williams JK, Skirton H, Reed D et al. (2001) Genetic counseling outcomes validation by UK and US genetics nurses. Journal of Nursing Scholarship 33: 369–374.

Related Sub-Topics:

Genetic Counseling | Health Care | Bioethics
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Article Title: Genetic Counselling Services: Outcomes
 
How to Cite close
Skirton, Heather(Dec 2009) Genetic Counselling Services: Outcomes. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005623.pub2]