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The initiator and timing of referral to breast cancer genetic counselling; an exploration of everyday person-centered practice

E. van Riel, A.J. Hubers, A.J. Witkamp, Sandra van Dulmen, M.G.E.M. Ausems


Objective: The referral process for genetic counselling in breast cancer patients may be compromised by patient-related factors, like patient’s age, referral initiative or cancer history. This study aimed to characterize this referral process in daily clinical practice.

Methods: During genetic counselling a checklist was filled in for each consecutive counselee affected with breast cancer assessing educational level, the initiator for referral and the ethnic background as reported by the counselee. Chi-square tests were used to assess associations between patient-related factors and initiator of referral and timing of genetic counselling.

Results: Included were 96 consecutive breast cancer patients referred to cancer genetic counselling: 52% of them were referred on their own initiative versus 48% on their doctor’s initiative. There was no significant relationship between initiator of referral and time since diagnosis, age at time of diagnosis, number of first-degree female relatives and number of first degree relatives affected by any cancer.

Discussion: Patients’ interest in genetic testing is not clearly related with time since diagnosis. Family history seems to play a role in the timing for referral.

Conclusion: At one out of two breast cancer patients plays a major role in the referral for genetic counselling. However, we did not establish a relationship between initiative for referral and time since diagnosis.


Age; breast cancer; diagnosis; genetic counselling; initiative; referral; relatives

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Brown, K. L., Hutchison, R., Zinberg, R. E., McGovern, M. M. (2005). Referral and experience with genetic testing among women with early onset breast cancer. Genetic Testing, 9, 301-305.

Escher, M. ,Sappino, A. P. (2000). Primary care physicians' knowledge and attitudes towards genetic testing for breast-ovarian cancer predisposition. Annuals of Oncology, 11, 1131-1135.

Pichert, G., Dietrich, D., Moosmann, P., Zwahlen, M., Stahel, R. A., Sappino, A. P. (2003). Swiss primary care physicians' knowledge, attitudes and perception towards genetic testing for hereditary breast cancer. Familial Cancer, 2, 153-158.

Van Riel, E., Wárlám-Rodenhuis, C. C., Verhoef, S., Rutgers, E. J. ,Ausems, M. G. (2010). BRCA testing of breast cancer patients: medical specialists' referral patterns, knowledge and attitudes to genetic testing. European Journal of Cancer Care (Engl), 19, 369-376.

Sussner, K. M., Jandorf, L. ,Valdimarsdottir, H. B. (2011). Educational needs about cancer family history and genetic counseling for cancer risk among frontline healthcare clinicians in New York City. Genetics in Medicine, 13, 785-793.

Quillin, J. M., Bodurtha, J. N., McClish, D. , Wilson, D. B. (2011). Genetic risk, perceived risk, and cancer worry in daughters of breast cancer patients. Journal of Genetic Counseling, 20, 157-164.

Trivers, K. F., Baldwin, L. M., Miller, J. W., Matthews, B., Andrilla, C. H., Lishner, D. M., Goff, B. A. (2011). Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study. Cancer, 117, 5334-5343.

Cohn, W. F., Ropka, M. E., Jones, S. M., Miesfeldt, S. (2003). Information needs about hereditary breast cancer among women with early-onset breast cancer. Cancer Detection and Prevention, 27, 345-352.

MacDonald, D. J., Sarna, L., Uman, G. C., Grant, M., Weitzel, J. N. (2005). Health beliefs of women with and without breast cancer seeking genetic cancer risk assessment. Cancer Nursing, 28, 372-379; quiz 380-371.

Van Asperen, C. J., Van Dijk, S., Zoeteweij, M. W., Timmermans, D. R., De Bock, G. H., Meijers-Heijboer, E. J., Niermeijer, M. F., Breuning, M. H., Kievit, J. ,Otten, W. (2002). What do women really want to know? Motives for attending familial breast cancer clinics. Journal of Medical Genetics, 39, 410-414.

Rantala, J., Platten, U., Lindgren, G., Nilsson, B., Arver, B., Lindblom, A., Brandberg, Y. (2009). Risk perception after genetic counseling in patients with increased risk of cancer. Hereditary Cancer in Clinical Practice, 7, 15.

Albada, A., Ausems, M. G., Otten, R., Bensing, J. M., van Dulmen, S. (2011a). Use and evaluation of an individually tailored website for counselees prior to breast cancer genetic counseling. Journal of Cancer Education, 26, 670-681.

Albada, A., Werrett, J., Van Dulmen, S., Bensing, J. M., Chapman, C., Ausems, M. G., Metcalfe, A. (2011b). Breast cancer genetic counselling referrals: how comparable are the findings between the UK and the Netherlands? Journal of Community Genetics, 2, 233-247.

Ardern-Jones, A., Kenen, R., Eeles, R. (2005). Too much, too soon? Patients and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. European Journal of Cancer Care (Engl), 14, 272-281.

Van Riel, E., van Dulmen, S., Ausems, M. G. (2012). Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral. Journal of Community Genetics, 4, 265-274.

Statistics Netherlands. (2008). Population; sexe, age, nationality. Available:,137,152,215,232&D6=0,4,9,(l-1)-l&HDR=G2,G1,G3,T&STB=G4,G5&VW=T [Accessed Accessed April 2011].

CBO (Dutch Institute for Healthcare Improvement). (2008). Guideline Breast Cancer (Richtlijn Mammacarcinoom). Available:

O'Neill, S. M., Peters, J. A., Vogel, V. G., Feingold, E., Rubinstein, W. S. (2006). Referral to cancer genetic counseling: are there stages of readiness? American Journal of Medical Genetics. Part C, Seminar in Medical Genetics, 142C, 221-231.

Schlich-Bakker, K. J., ten Kroode, H. F., Warlam-Rodenhuis, C. C., van den Bout, J., Ausems, M. G. (2007). Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer. Genetics in Medicine, 9, 766-777.

Vadaparampil, S. T., Quinn, G. P., Miree, C. A., Brzosowicz, J., Carter, B., Laronga, C. (2009). Recall of and reactions to a surgeon referral letter for BRCA genetic counseling among high-risk breast cancer patients. Annals of Surgical Oncology, 16, 1973-1981.

Fraser, L., Bramald, S., Chapman, C., Chu, C., Cornelius, V., Douglas, F., Lucassen, A., Nehammer, A., Sutton, S., Trivella, M., Hodgson, S. (2003). What motivates interest in attending a familial cancer genetics clinic? Familial Cancer, 2, 159-168.

Brain, K., Gray, J., Norman, P., Parsons, E., Clarke, A., Rogers, C., Mansel, R., Harper, P. (2000). Why do women attend familial breast cancer clinics? Journal of Medical Genetics, 37, 197-202.

Christianson, C. A., Powell, K. P., Hahn, S. E., Blanton, S. H., Bogacik, J., Henrich, V. C. (2012). The use of a family history risk assessment tool within a community health care system: Views of primary care providers. Journal of Genetic Counseling, 21, 652-661

Julian-Reynier, C., Eisinger, F., Chabal, F., Aurran, Y., Bignon, Y. J., Nogues, C., Machelard, M., Maugard, C., Vennin, P., Sobol, H. (1998). Time elapsing from cancer diagnosis and anxiety in women attending cancer genetic clinics. Oncology Reports, 5, 885-888.

Hopwood, P. 2000. Breast cancer risk perception: what do we know and understand? Breast Cancer Research, 2, 387-391.

Armstrong, K., Weber, B., Stopfer, J., Calzone, K., Putt, M., Coyne, J., Schwartz, J. S. (2003). Early use of clinical BRCA1/2 testing: associations with race and breast cancer risk. American Journal of Medical Genetics A, 117A, 154-160.

Schlich-Bakker, K. J., Ausems, M. G. E. M., Schipper, M., ten Kroode, H. F. J., Wárlám-Rodenhuis, C. C., van den Bout, J. (2008). BRCA1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy. Breast Cancer Research and Treatment, 109, 507-514.

Bluman, L. G., Rimer, B. K., Berry, D. A., Borstelmann, N., Iglehart, J. D., Regan, K., Schildkraut, J., Winer, E. P. (1999). Attitudes, knowledge, and risk perceptions of women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2. Journal of Clinical Oncology, 17, 1040-1046.



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