Improving service evaluation in clinical genetics: Identifying effects of genetic diseases on individuals and families

Journal of Genetic Counseling

Volumn 16, Issue 1, 2007, Pages 71-83

  McAllister, Marion ^a,b   Payne, Katherine ^a,c   Nicholls, Stuart ^a,c   MacLeod, Rhona ^b,c   Donnai, Dian ^a,b,c   Davies, Linda M ^c  

^a Nowgen Centre   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Clinical genetics services; Effects of genetic diseases; Evaluation; Outcome measurement

Indexed keywords

ARTICLE; CLINICAL EVALUATION; CLINICAL PRACTICE; EMOTION; GENETIC DISORDER; HEALTH PRACTITIONER; HEALTH SERVICE; HUMAN; OUTCOME ASSESSMENT; QUALITATIVE ANALYSIS; SOCIAL ASPECT;

FAMILY; GENETIC DISEASES, INBORN; GENETICS, MEDICAL; HUMANS; QUALITY OF HEALTH CARE;

EID: 33847682868     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-006-9046-3     Document Type: Article

References (58)

1. 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.
2. Bagshaw, H., & Unell, J. (1997). Examining outcomes in Community Care. Report on focus groups. York: Social Policy Research Unit.
3. 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.
4. 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.
5. 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.
6. Biesecker, B. B., & Peters, K. (2001). Process studies in genetic counseling: peering into the black box. Am J Med Genet, 106, 191-198.
7. 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.
8. 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.
9. Bowling, A. (2004). Research methods in health, Second edition. Open University Press: Maidenhead.
10. 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.
11. 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.
12. Clarke, A., Parsons, E., & Williams, A. (1996). Outcomes and process in genetic counselling. Clin Genet, 50, 462-469.
13. 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.
14. 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.
15. Dey, I. (1993). Qualitative Data Analysis: A user-friendly guide for social scientists. London: Routledge.
16. Donnai, D., & Elles, R. (2001). Integrated regional genetic services: current and future provision. BMJ, 322, 1048-1052.
17. Donnai, D. (2002). Genetic services. Clin Genet, 61, 1-6.
18. 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.
19. 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.
20. Fanos, J. H. (1999). "My crooked vision": The well sib views Ataxia-Telangiectasia. Am J Med Genet, 87, 420-425.
21. Fanos, J. H., & Johnson, J. P. (1995). Perceptions of carrier status by cystic fibrosis siblings. Am J Hum Genet, 57, 431-438.
22. 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.
23. 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.
24. Fraser, F. C. (1975). Genetic Counseling. Am J Hum Genet, 27, 240-242.
25. 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.
26. Glaser, B. G., & Strauss, A. L. (1967). The discovery of grounded theory. London: Weidenfeld & Nicholson.
27. 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.
28. Hamilton, R. J., Bowers, B. J., & Williams, J. K. (2005). Disclosing genetic test results to family members. J Nurs Scholarsh, 37, 18-24.
29. 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.
30. 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.
31. 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.
32. Lederbergh, J. (1999). JBS Haldane (1949) on infectious disease and evolution. Genetics, 153, 1-3.
33. MacLeod, R. (2003). The genetic counselling process: An interpretative phenomenological analysis of patient-counsellor interactions. PhD thesis: University of Manchester.
34. 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.
35. McAllister, M. (2001). Grounded theory in genetic counseling research. J Genet Counsel, 10, 233-250.
36. 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.
37. 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.
38. 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.
39. Michie, S., Dormandy, E., & Marteau, T. M. (2002). The multidimensional measure of informed choice: a validation study. Pat Educ Counsel, 48, 87-91.
40. Michie, S., Dormandy, E., & Marteau, T. M. (2003). Informed choice: understanding knowledge in the context of screening uptake. Pat Educ Counsel, 50, 247-253.
41. Middleton, A., Hewison, J., & Mueller, R. (2001). Prenatal diagnosis for inherited deafness-what is the potential demand? J Genet Counsel, 10, 121-131.
42. Miles, M. B., & Huberman, A. M. (1994). Qualitative data analysis: An expanded sourcebook. London: Sage.
43. 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.
44. 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.
45. Pembrey, M. (2003). Using ALSPAC to explore heterozygous effects. J Med Genet, 40(Suppl1), S20.
46. 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.
47. 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.
48. Shiloh, S., Avdor, O., & Goodman, R. M. (1990) Satisfaction with genetic counseling: dimensions and measurement. Am J Med Genet, 37, 522-529.
49. Silverman, D. (2005). Doing qualitative research. 2nd edn. London: Sage.
50. Skirton, H. (2001). The client's perspective of genetic counseling - a grounded theory study. J Genet Counsel, 10, 311-329.
51. 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.
52. Strauss, A. (1989). Qualitative analysis for social scientists. Cambridge: Cambridge University Press.
53. Strauss, A., & Corbin, J. (1990). Basics of qualitative research: Grounded theory procedures and techniques. London: Sage.
54. 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.
55. 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.
56. 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.
57. 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.
58. 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.