Open Access Study protocol

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

Aisha S Sie1, Liesbeth Spruijt1, Wendy AG van Zelst-Stams1, Arjen R Mensenkamp1, Marjolijn J Ligtenberg1, Han G Brunner1, Judith B Prins2 and Nicoline Hoogerbrugge1*

Author Affiliations

1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

2 Department of Medical Psychology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

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BMC Women's Health 2012, 12:12  doi:10.1186/1472-6874-12-12

Published: 8 May 2012



Current practice for patients with breast cancer referred for genetic counseling, includes face-to-face consultations with a genetic counselor prior to and following DNA-testing. This is based on guidelines regarding Huntington’s disease in anticipation of high psychosocial impact of DNA-testing for mutations in BRCA1/2 genes. The initial consultation covers generic information regarding hereditary breast cancer and the (im)possibilities of DNA-testing, prior to such testing. Patients with breast cancer may see this information as irrelevant or unnecessary because individual genetic advice depends on DNA-test results. Also, verbal information is not always remembered well by patients. A different format for this information prior to DNA-testing is possible: replacing initial face-to-face genetic counseling (DNA-intake procedure) by telephone, written and digital information sent to patients’ homes (DNA-direct procedure).


In this intervention study, 150 patients with breast cancer referred to the department of Clinical Genetics of the Radboud University Nijmegen Medical Centre are given the choice between two procedures, DNA-direct (intervention group) or DNA-intake (usual care, control group). During a triage telephone call, patients are excluded if they have problems with Dutch text, family communication, or of psychological or psychiatric nature. Primary outcome measures are satisfaction and psychological distress. Secondary outcome measures are determinants for the participant’s choice of procedure, waiting and processing times, and family characteristics. Data are collected by self-report questionnaires at baseline and following completion of genetic counseling. A minority of participants will receive an invitation for a 30 min semi-structured telephone interview, e.g. confirmed carriers of a BRCA1/2 mutation, and those who report problems with the procedure.


This study compares current practice of an intake consultation (DNA-intake) to a home informational package of telephone, written and digital information (DNA-direct) prior to DNA-testing in patients with breast cancer. The aim is to determine whether DNA-direct is an acceptable procedure for BRCA1/2 testing, in order to provide customized care to patients with breast cancer, cutting down on the period of uncertainty during this diagnostic process.

Trial registration

The study is registered at the Dutch Trial Registry webcite (NTR3018).

Hereditary; Breast cancer; BRCA; Genetic; Counseling; DNA