Family Matters: Adjustment to genetic cancer susceptibility testing

textabstractCancer is generally feared because it is associated with death and severe physical suffering. It is one of the most common causes of death in the Netherlands. Breast and colon cancer are the most prevalent types of cancer among women. Frequently occurring types in men are cancer of colon, lung and prostate. About 5% of colorectal and breast cancer arises as a result of a mutation in an inherited cancer susceptibility gene. Knowledge about these cancer susceptibility genes has been accumulating in an impressive manner over the last decades, resulting in the clinical availability of genetic testing from the mid-nineties onward. Through genetic testing, an individual’s risk to develop cancer can be determined more precisely. This can reduce feelings of uncertainty about the risk one has to develop cancer at some point in life. Another advantage is that individuals testing negative for the mutation can be discharged from unnecessary and possibly invasive early detection and/or prevention strategies. Genetic testing has several psychosocial implications, especially for mutation carriers. It implies knowing to be at high risk to develop cancer at an early stage in life, while often having witnessed the devastating impact of cancer on close family members. It implies going to hospitals regularly for screening with the possibility of hearing bad news, or opting for far-reaching preventive options like prophylactic surgery. It implies that you can pass on or may have passed on the susceptibility to your own children, who will have to face the same fate. It means that other close family members are also at increased risk to develop cancer. Finally, it may imply more difficulties in obtaining life insurance, mortgage or insurances for disablement. This thesis aims at understanding the psychosocial consequences of genetic susceptibility testing for a predisposition to develop breast cancer and colorectal cancer and to identify risk factors for maladjustment. We focus on individuals from families with a known mutation in the BRCA1 or BRCA2 genes (breast cancer) or one of the HNPCC-related genes (colorectal cancer). The two conditions are comparable according to Rolland’s psychosocial typology1 with regard to the likelihood of developing cancer, the timing of clinical onset in life cycle, overall clinical severity and availability of prevention and treatment options