The Effectiveness of Family History Questionnaires in Cancer Genetic Counseling
The number of individuals receiving genetic counseling for hereditary breast and ovarian cancer syndrome has steadily risen. To triage patients for genetic counseling and to help reduce the amount of time needed by a genetic counselor in direct patient contact, many clinics have implemented the use of family history questionnaires. Although such questionnaires are widely used, scant literature exists evaluating their effectiveness. This article explores the extent to which family history questionnaires are being used in Ontario and addresses the utility of such questionnaires in one familial cancer clinic. By comparing the pedigrees created from questionnaires to those updated during genetic counseling, the accuracy and effectiveness of the questionnaires was explored. Of 121 families recruited into the study, 12% acquired changes to their pedigree that led to a revised probability estimate for having a BRCA1 or BRCA2 mutation and 5% acquired changes that altered their eligibility for genetic testing. No statistically significant difference existed between the eligibility for genetic testing prior to and post counseling. This suggests that family history questionnaires can be effective at obtaining a family history and accurately assessing eligibility for genetic testing. Based on the variables that were significantly associated with a change in probability estimate, we further present recommendations for improving the clarity of such questionnaires and therefore the ease of use by patients.
KeywordsGenetic counseling Family history Hereditary breast and ovarian cancer Probability estimate
The authors wish to acknowledge Kara Hitchman for her excellent comments and contributions to reviewing the manuscript.
- Antoniou, A., Pharoah, P. D., Narod, S., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72, 1117–1130. doi: 10.1086/375033.PubMedCrossRefGoogle Scholar
- Berry, D. A., Iversen, E. S,. Jr, Gudbjartsson, D. F., Hiller, E. H., Garber, J. E., Peshkin, B. N., et al. (2002). BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. Journal of Clinical Oncology, 20(11), 2701–2712. doi: 10.1200/JCO.2002.05.121.PubMedCrossRefGoogle Scholar
- Brener, D., Schulz, C., Schluger, A., & Offit, K. (1996). A self-administered family history questionnaire (FHQ) utilized in an outpatient setting to assess cancer risk. American Journal of Human Genetics, 59, A333.Google Scholar
- Chalmers, K. I., Luker, K. A., Leinster, S. J., Ellis, I., & Booth, K. (2001). Information and support needs of women with primary relatives with breast cancer: development of the information and support needs questionnaire. Journal of Advanced Nursing, 35(4), 497–507. doi: 10.1046/j.1365-2648.2001.01866.x.PubMedCrossRefGoogle Scholar
- FamyGenetix Ltd. (2001). Cyrillic 3. Oxford: UK.Google Scholar
- Hallowell, N., Murton, F., Statham, H., Green, J. M., & Richards, M. P. (1997). Women's need for information before attending genetic counselling for familial breast or ovarian cancer: a questionnaire, interview, and observational study. BMJ (Clinical Research Ed), 281, 7076–283.Google Scholar
- Marroni, F., Aretini, P., D’Andrea, E., Caligo, M. A., Cortesi, L., Viel, A., et al. (2004). Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. European Journal of Human Genetics, 12(11), 899–906. doi: 10.1038/sj.ejhg.5201256.PubMedCrossRefGoogle Scholar
- NCIC. (2007). Canadian Cancer Statistics 2007. Toronto: Canada.Google Scholar
- Risch, H. A., McLaughlin, J. R., Cole, D. E., Rosen, B., Bradley, L., Kwan, E., et al. (2001). Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. American Journal of Human Genetics, 68(3), 700–710. doi: 10.1086/318787.PubMedCrossRefGoogle Scholar
- Satagopan, J. M., Offit, K., Foulkes, W., Robson, M. E., Wacholder, S., Eng, C. M., et al. (2001). The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiology, Biomarkers & Prevention, 10(5), 467–473.Google Scholar
- Thorlacius, S., Struewing, J. P., Hartge, P., Olafsdottir, G. H., Sigvaldason, H., Tryggvadottir, L., et al. (1998). Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet, 352(9137), 1337–1339. doi: 10.1016/S0140-6736(98)03300-5. see comment.PubMedCrossRefGoogle Scholar