Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks?

Presymptomatic DNA testing for autosomal dominant hereditary breast/ovarian cancer (HBOC) became an option after the identification of the BRCA1 and B RCA2 genes in 1994-1995. Healthy female mutation carriers have a high lifet ime risk for breast cancer (56-87%) or ovarian cancer (10-60%) and may opt for intensive breast and ovary surveillance or prophylactic surgery (mastec tomy/oophorectomy). We studied general and cancer related distress in 85 healthy women with a 2 5% or 50% risk of being carrier of a BRCA1/BRCA2 gene mutation and 66 partn ers in the six to eight week period between genetic counselling/blood sampl ing and disclosure of the test result. Questionnaire and interview data are analysed. Associations are explored between levels of distress and (1) exp ected consequences of being identified as a mutation carrier, (2) personali ty traits, (3) sociodemographic variables, and (4) experiences related to H BOC. Mean pre-test anxiety and depression levels in women at risk of being a car rier and partners were similar to those of a normal Dutch population. In ab out 25% of those at risk of being a carrier and 10% of the partners, increa sed to high levels of general and cancer related distress were found. Incre ased levels of distress were reported by women who (1) anticipated an incre ase in problems after an unfavourable test outcome, (2) considered prophyla ctic mastectomy if found to be mutation carrier, (3) had an unoptimistic pe rsonality, (4) tended to suppress their emotions, (5) were younger than 40 years, and (6) were more familiar with the serious consequences of HBOC. Re cently obtained awareness of the genetic nature of cancer in the family was not predictive of distress. The majority of the women and their partners experienced a relatively calm period before the disclosure of the test result and seemed to postpone dist ressing thoughts until the week of disclosure of the result. The low distre ss levels may partly be explained by the use of strategies to minimise the emotional impact of a possibly unfavourable test outcome. However, a minori ty reported feeling very distressed. Several factors were found to be predi ctive for increased distress levels.