BRCA1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy

This study assessed psychological distress during the first year after diagnosis in breast cancer patients approached for genetic counseling at the start of adjuvant radiotherapy and identified those vulnerable to long-term high distress. Of the approached patients some chose to receive a DNA test result (n = 58), some were approached but did not fulfill criteria for referral (n = 118) and some declined counseling and/or testing (n = 44). The comparative group consisted of patients not eligible for genetic counseling (n = 182) and was therefore not approached. Patients actively approached for genetic counseling showed no more long-term distress than patients not eligible for such counseling. There were no differences between the subgroups of approached patients. Predictors for long-term high distress or an increase in distress over time were pre-existing high distress and a low quality of life, having children, and having no family members with breast cancer. It is concluded that breast cancer patients can be systematically screened and approached for genetic counseling during adjuvant radiotherapy without imposing extra psychological burden. Patients vulnerable to long-term high distress already displayed high distress shortly after diagnosis with no influence of their medical treatment on their level of distress at long-term

Familial disease with a risk of sudden death:A longitudinal study of the psychological consequences of predictive testing for long QT syndrome

BACKGROUND Since 1996, in the Netherlands, cardiac and molecular screening has been performed in families with the tong QT syndrome, a potentially Life-threatening but treatable cardiac arrhythmia syndrome. The psychological consequences of predictive cardiac and molecular screening in these families are relatively unknown. OBJECTIVE A psychological study was initiated to investigate the extent and course of distress caused by this new form of predictive genetic testing. METHODS We carried out a prospective study to assess the extent and course of disease-related anxiety and depression, caused by predictive genetic testing, in applicants and their partners from the time of first consultation until 18 months after the disclosure of the result of genetic testing. RESULTS Seventy-seven applicants and 57 partners were investigated for measures of distress in 3 assessments. Those individuals who received an uncertain electrocardiogram result seemed especially vulnerable for distress, at least in the short term. The distress Levels in the whole group of applicants were largely restored within 18 months. However, the disease-related anxiety scores in carriers remained relatively increased at tong term. As compared with partners of noncarriers, partners of mutation carriers had higher levels of disease-related anxiety at all 3 assessments. CONCLUSION Predictive testing for long QT syndrome consisting of cardiologic testing followed by molecular testing leads to distress, especially in carriers with an uncertain electrocardiogram and their partners at first visit. These distress levels return to normal at tong term. However, for carriers with an uncertain electrocardiogram, the incidence of clinically relevant distress was high, most probably also. caused by the consequences of having the disease