Genomic medicine has, on one hand, the power to predict potentially debilitating disease before its actual onset;on the other hand, it creates challenges for patients in determining how to assess uncertainty and the risk of developing genomic-related adult-onset medical conditions. If adults are married when genetic testing occurs, they may discuss the test results with their spouses and decide on future actions together, such as disclosing the genetic test results to others;their spouses may also be affected by these discussions and decisions. This project, then, provides insights into the social implications of genetic tests. Current research on spousal discussions of genetic tests focuses on asymptomatic adults considering risks of future conditions for themselves or genetic implications for their children. In this era of personalized medicine, genetic tests are increasingy included with traditional diagnostics. For example, when adults present with symptoms such as shortness of breath or wheezing, diagnostic efforts may include screening for chronic infections, along with evaluation of patient genotype to establish risk for Alpha-1 antitrypsin deficiency (AATD). AATD fits into a class of genetic conditions in which clinical onset is in adulthood, likelihood of development is variable, and treatment and/or lifestyle modification can alter the onset or progression of clinical conditions. Other conditions fitting into this category are BRCA 1/2 mutations associated with breast cancers. Adults managing serious chronic illnesses may discover they have a genetic risk for their AOMC. By focusing on couples'communication about AATD test results, we can reveal illness and relational challenges faced by couples and how symptomatic and asymptomatic scenarios may influence management in both realms. In this project, we test a theoretical model for genomic/genetic medical decision-making (GMD) that formalizes how spouses'beliefs about genetics predict (a) their within-couple communication about the genetic information, (b) what information they share and with whom, and (c) patients'and spouses'overall wellbeing and protective behaviors. To date, the interdependence in couples'beliefs and within-couple influences in GMD has been unexamined. By gathering information from both spouses, we can identify intrapersonal, interpersonal, and couple-level influences in GMD. Persons diagnosed with AATD and their spouses have been surveyed in collaboration with the Alpha-1 Research Registry. The proposed work will use quantitative techniques to analyze how well the proposed GMD model fits these data, in order to identify sub-groups of couples based on their genetic beliefs, conversation patterns, and wellbeing. The theory and sub-group findings will be used to develop targeted materials with support agencies to support couples managing genetic test results. A future R01 project will test these targeted materials through website deployment, including a pre-exposure, online quiz for couples so they can access relevant materials for them.
This project will analyze survey responses from Alpha-1 Research Registry members and their spouses to uncover social influences in genetic/genomic medical decision-making. The results will uncover how couples process genetic test results to identify unintended consequences for their relationship and their wellbeing.