Personalized Medicine for Aortic Disease by Returning Research-Level Genetic Results
LeVasseur, Madeline K.
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Aortic disease is a branch of cardiovascular disease that includes aneurysms, dissections, ruptures, and genetically derived conditions—it is divided into thoracic and abdominal aortic disease. Thoracic aortic aneurysms and dissections (TAAD) are the two most prominent diseases affecting the thoracic aorta. A more specific branch of TAAD is familial TAAD (FTAAD), which encompasses cases of non-syndromic TAAD in individuals with a positive family history of the disease. To date, genomic research has identified a total of ten genes associated with FTAAD. These ten genes only account for about 20% of all cases of FTAAD, leaving many novel variants to be identified. Elucidating the specific genetic variants associated with FTAAD alongside phenotypic manifestations will allow for the use of genomic research to personalize clinical care of aortic disease. This new era of personalized medicine is leading to earlier and more precise diagnoses, targeted treatments, and improved health outcomes. Despite the progress being made for precision medicine, procedures and guidelines for the use of genomic information in clinical medicine remain largely unestablished and require further study and evaluation. The next step for closing this gap between genomic research and clinical medicine is developing a model for the return of research-level genetic results to patients. This proposal is designed to work toward the development of an optimal model for returning research-level genetic results. It does so by providing a protocol for returning research-level genetic results to a small subset of high-impact patients from the Cardiovascular Health Improvement Project.