Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service providers or adapted from measures used in other areas of healthcare. Many of the ‘patients’ in clinical genetics are healthy but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases were identified. Some differences emerged between the effects identified by health professionals and those identified by patients. These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services.
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REFERENCES
Ayme, S., Macquart-Moulin, G., Julien-Raynier, C., Chabal, F., &Giraud, F. (1994). Diffusion of information about genetic risk within families. Neuromusc Disord, 3, 571–7574.
Bagshaw, H., & Unell, J. (1997). Examining outcomes in Community Care. Report on focus groups. York: Social Policy Research Unit.
Benjamin, C. M., Colley, A., Donnai, D., Kingston, H., Harris, R., & Kerzin-Storrar, L. (1993). Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet, 30(7), 567–574.
Bernhardt, B. A., Biesecker, B. B., & Mastromarino, C. L. (2000). Goals, benefits and outcomes of genetics counseling: client and genetic counselor assessment. Am J Med Genet, 94189–94197.
Biesecker, B. B., Ishibe, N., Hadley, D. W., Giambarresi, T. R., Kase, R. G., Lerman, C., & Struewing, J. P. (2000). Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of Hereditary Breast and Ovarian Cancer Families. Am J Med Genet, 93, 257–263.
Biesecker, B. B., & Peters, K. (2001). Process studies in genetic counseling: peering into the black box. Am J Med Genet, 106, 191–198.
Binedell, J., Soldan, J. R., & Harper, P. S. (1998). Predictive testing for Huntington’s disease: I. Predictors of uptake in South Wales. Clin Genet, 54, 477–488.
Bish, A., Sutton, S., Jacobs, C., Levene, S., Ramirez, A., & Hodgson, S. (2002). Changes in psychological distress after cancer genetic counselling: a comparison of affected and unaffected women. Br J Cancer, 86, 43–50.
Bowling, A. (2004). Research methods in health, Second edition. Open University Press: Maidenhead.
Chapple, A., May, C., & Campion, P. (1995). Lay understanding of genetic disease: A British study of families attending a genetic counseling service. J Genet Counsel, 4(4), 281–300.
Claes, E., Evers-Kiebooms, G., Boogaerts, A., Decruyenaere, M., Denayer, L., & Legius, E. (2003). Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet, 116A, 11–19.
Clarke, A., Parsons, E., & Williams, A. (1996). Outcomes and process in genetic counselling. Clin Genet, 50, 462–469.
Clarke, A., Richards, M., Kerzin-Storrar, L., Halliday, J., Young, M. A., Simpson, S. A., Featherstone, K., et al. (2005). Genetic professionals reports of nondisclosure of genetic risk information within families. Eur J Hum Genet, 13, 556–562.
Daly, M. B., Barsevick, A., Miller, S. M., Buckman, R., Costalas, J., Montgomery, S., & Bingler, R. (2001). Communicating genetic test results to the family: A six-step, skills-building strategy. Fam Community Health, 2413–2426.
Dey, I. (1993). Qualitative Data Analysis: A user-friendly guide for social scientists. London: Routledge.
Donnai, D., & Elles, R. (2001). Integrated regional genetic services: current and future provision. BMJ, 322, 1048–1052.
Donnai, D. (2002). Genetic services. Clin Genet, 61, 1–6.
Downing, C. (2005). Negotiating responsibility: Case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington Disease. J Genet Counsel, 14(3), 219–234.
Evans, D. G., Blair, V., Greenhalgh, R., Hopwood, P., & Howell, A. (1994). The impact of genetic counselling on risk perception in women with a family history of breast cancer. Br J Cancer, 70, 934–938.
Fanos, J. H. (1999). “My crooked vision”: The well sib views Ataxia-Telangiectasia. Am J Med Genet, 87, 420–425.
Fanos, J. H., & Johnson, J. P. (1995). Perceptions of carrier status by cystic fibrosis siblings. Am J Hum Genet, 57, 431–438.
Fanos, J., & Puck, J. M. (2001). Family pictures: Growing up with a brother with X-Linked Severe Combined Immunodeficiency syndrome. Am J Med Genet, 98, 57–63.
Foster, C., Watson, M., Moynihan, C., Ardern-Jones, A., & Eeles, R. (2002). Genetic testing for breast and ovarian cancer: Cancer burden and responsibility. J Health Psychol, 7(4), 469–484.
Fraser, F. C. (1975). Genetic Counseling. Am J Hum Genet, 27, 240–242.
Gaff, C. L., Collins, V., Symes, T., & Halliday, J. (2005). Facilitating family communication about predictive genetic testing: proband’s perceptions. J Genet Counsel, 14(2), 133–140.
Glaser, B. G., & Strauss, A. L. (1967). The discovery of grounded theory. London: Weidenfeld & Nicholson.
Hallowell, N., Ardern-Jones, A., Eeles, R., Foster, C., Lucassen, A., Moynihan, C., & Watson, M. (2005). Men’s decision-making about predictive BRCA1/2 testing: The role of family. J Genet Counsel, 14(3), 207–217.
Hamilton, R. J., Bowers, B. J., & Williams, J. K. (2005). Disclosing genetic test results to family members. J Nurs Scholarsh, 37, 18–24.
Hughes, C., Lerman, C., Schwarz, M., Peshkin, B. N., Wenzel, L., Narod, S., Corio, C., et al. (2002). All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet, 107, 143–150.
Julian-Reynier, C., Eisinger, F., Chabal, F., Aurran, Y., Bignon, Y., Machalard-Roumagnac, M., Maugard, C., Nogues, C., Vennin, P., & Sobol, H. (2000). Cancer genetic consultation and anxiety in healthy consulates. Pychol & Health, 14, 379–390.
Kerzin-Storrar, L., Wright, C., Williamson, P. R., Fryer, A., Njindou, A., Quarrell, O., Donnai, D., et al. (2002). Comparison of genetic services with and without genetic registers: Access and attitudes to genetic counselling services among relatives of genetic clinic patients. J Med Genet, 39, e85.
Lederbergh, J. (1999). JBS Haldane (1949) on infectious disease and evolution. Genetics, 153, 1–3.
MacLeod, R. (2003). The genetic counselling process: An interpretative phenomenological analysis of patient-counsellor interactions. PhD thesis: University of Manchester.
McAllister, M. (2005). On the joys and sorrows of recruiting hospital patients. In N. Hallowell, J. Lawton, & S. Gregory (Eds.), Reflections on research: The realities of doing research in the social sciences (pp. 67–69). Maidenhead: Open University Press.
McAllister, M. (2001). Grounded theory in genetic counseling research. J Genet Counsel, 10, 233–250.
McAllister, M. (2003). Personal theories of inheritance, coping strategies, risk perception and engagement in Hereditary Non-polyposis Colon Cancer families offered genetic testing. Clin Genet, 64, 179–189.
McAllister, M., Evans, D. G. R., Ormiston, W., & Daly, P. (1998). Men in breast cancer families: A preliminary qualitative study of awareness and experience. J Med Genet, 35, 739–744.
McAllister, M., Payne, K., Nicholls, S., MacLeod, R., Davies, L., Middleton-Price, H., & Donnai, D. (2005). Evaluating genetics services: exploring the client perspective. J Med Genet, 42(Suppl 1), S23.
Michie, S., Dormandy, E., & Marteau, T. M. (2002). The multi-dimensional measure of informed choice: a validation study. Pat Educ Counsel, 48, 87–91.
Michie, S., Dormandy, E., & Marteau, T. M. (2003). Informed choice: understanding knowledge in the context of screening uptake. Pat Educ Counsel, 50, 247–253.
Middleton, A., Hewison, J., & Mueller, R. (2001). Prenatal diagnosis for inherited deafness–what is the potential demand? J Genet Counsel, 10, 121–131.
Miles, M. B., & Huberman, A. M. (1994). Qualitative data analysis: An expanded sourcebook. London: Sage.
Mitchell, G., Farndon, P. A., Brayden, P., Murday, V. A., & Eeles, R. A. (2005). Genetic predisposition to cancer: the consequences of a delayed diagnosis of Gorlin syndrome. Clin Oncol (R Coll Radiol), 17(8), 650–654.
Nouri, K., Chang, A., Trent, J. T., & Jimenez, G. P. (2002). Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. Dermatol Surg, 28(3), 287–290.
Pembrey, M. (2003). Using ALSPAC to explore heterozygous effects. J Med Genet, 40(Suppl1), S20.
Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Exploratory study of the feasibility and utility of the coloured eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer. Am J Med Genet, 130A(3), 258.
Segal, J., Esplen, M. J., Toner, B., Baedorf, S., Narod, S., & Butler, K. (2004). An investigation of the disclosure process and support needs of BRCA1 and BRCA2 carriers. Am J Med Genet, A125(3), 267–272.
Shiloh, S., Avdor, O., & Goodman, R. M. (1990) Satisfaction with genetic counseling: dimensions and measurement. Am J Med Genet, 37, 522–529.
Silverman, D. (2005). Doing qualitative research. 2nd edn. London: Sage.
Skirton, H. (2001). The client’s perspective of genetic counseling – a grounded theory study. J Genet Counsel, 10, 311–329.
Somer, M., Mustonen, H., & Norio, R. (1988) Evaluation of genetic counselling: recall of information, post-counselling reproduction, and attitude of the counsellees. Clin Genet, 34, 352–365.
Strauss, A. (1989). Qualitative analysis for social scientists. Cambridge: Cambridge University Press.
Strauss, A., & Corbin, J. (1990). Basics of qualitative research: Grounded theory procedures and techniques. London: Sage.
Suslak, L., Price, D. M., & Desposito, F. (1985). Transmitting balanced translocation information within families: A follow-up study. Am J Med Genet, 20, 227–232.
Tercyak, K. P., Johnson, S. B., Roberts, S. F., & Cruz, A. C. (2001). Psychological response to prenatal genetic counseling and amniocentesis. Patient Educ Couns, 43, 73–84.
Van Oostrom, I., Meijers-Heijboer, H., Lodder, L. N., Duivenvoorden, H. J., van Gool, A. R., Seynaeve, C., van der Meer, C. A., et al. (2003). Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol, 21, 3867–3874.
Wang, C., Gonzalez, R., & Merajver, S. D. (2004). Assessment of genetic testing and related counseling services: current research and future directions. Soc Sci Med, 58, 1427–1442.
Wertz, D. C., Sorenson, J. R., & Heeren, T. C. (1986). Clients’ interpretation of risks provided in genetic counseling. Am J Hum Genet, 39, 253–264.
ACKNOWLEDGEMENTS
We would like to thank the Huntington’s Disease Association, the Neurofibromatosis Association; the Gorlin syndrome group; the Hereditary Breast Cancer helpline; the Motor Neurone disease support group, the Von-Hippel Lindau Disease support group, Breakthrough Breast Cancer Genetics Reference Group and the Myotonic Dystrophy group for providing representation in the focus groups. We would also like to thank the patients and health professionals who gave freely of their time to contribute to this research. Nowgen, the Northwest Genetic Knowledge Park is funded by a grant from the Department of Health and the Department of Trade and Industry. Funding is also acknowledged from Central Manchester and Manchester Children’s University Hospitals NHS Trust and the Universities of Manchester, Liverpool and Lancaster. The views expressed in this paper are those of the authors and not of the funding bodies.
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APPENDIX 1: FOCUS GROUP SCHEDULE
APPENDIX 1: FOCUS GROUP SCHEDULE
PART 1
What are the effects of genetic conditions on individuals and families?
Probe for good as well as bad effects
Probe for any, that are considered very important
Which of these would you want to modify in a clinical genetics service?
Are there other things that you would want to modify in a clinical genetics service?
PART 2
Which of these outcomes do you think you actually can modify in the context of current knowledge and service structure?
Probe for what is positive about current services
Probe for what is negative about current services
What aspects of genetics services are effective in achieving these outcomes?
What aspects of genetics services are not effective and need to change?
Note: what we’re trying to get at here is HOW best to achieve the aims identified in Part 1, whether it be by genetic testing, or by aspects of service structure, or using communication and counselling skills or whatever
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McAllister, M., Payne, K., Nicholls, S. et al. Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families. J Genet Counsel 16, 71–83 (2007). https://doi.org/10.1007/s10897-006-9046-3
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DOI: https://doi.org/10.1007/s10897-006-9046-3