Stress and genetic testing for disease risk.

Abstract

Healthy people who believe they are at risk for a life-threatening disease appear to carry a substantial stress burden because of threat of disease and uncertainty of risk. Testing for risk factors may be helpful by reducing this uncertainty, but diseases with multiple causes, like breast cancer, appear to be determined by genetic factors and by age, reproductive behavior, exposure to environmental toxins, or unknown antecedents. For diseases caused by inherited genetic defects, testing brings different benefits and stressors. A model is proposed that predicts long-term distress when risk analysis suggests a very high risk, when uncertainty is not reduced, when results of testing are at odds with preventive actions already taken, and when people who receive a positive, risk-increasing result lack strong social support, coping skills, other psychosocial resources, or all of these.

Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients

“…For example, patients who chose to await test results before proceeding with their treatment may have experienced anxiety in anticipation of their test result and the uncertainty associated with their treatment status (32). This is consistent with conceptual models that emphasize the role of uncertainty in the adjustment to genetic testing (33). Regardless of whether anxiety is a cause or consequence of genetic testing decisions, anxiety can serve as barrier to informed medical decision making (34) and risk comprehension (35).…”

Monitoring coping style moderates emotional reactions to genetic testing for hereditary nonpolyposis colorectal cancer: a longitudinal study

“…High monitors may be especially likely to opt for predictive genetic testing for cancer because of their threat-related vigilance and information-seeking style [39][40][41][42]. However, the paradox is that they are those most adversely affected by it: high monitors were found more likely than low monitors to experience distress when provided with information about increased genetic risk for cancer or in response to indeterminate results [30,40,[43][44][45][46][47][48]. Accordingly, we expected that high monitors testing for HNPCC would show higher distress levels in general, and especially when receiving positive or indeterminate results.…”

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

“…The hypothesis that genetic uncertainty causes distress seems too general and unspecific [26,27] to find high distress levels due to uncertain DNA results and the genetic counselling in general [28,29]. Firstly, other variables should be included, such as demographics, family history and cancer history [21,30,31], coping style and personality [30,[32][33][34], illness perception [35,36], and family communication [37].…”