A Panel on Clinical Applications for Complex Genetic Diseases

Presentation Description / Summary: Known causative mutations in veterinary medicine have historically been Mendelian, or single gene, diseases. Interpretation of simple genetic tests and making treatment and breeding recommendations to owners is relatively straightforward. These simple genetic mutations are important causes of disease in equine populations, however, complex genetic disease, where dozens of genetic risk alleles and the environment contribute to disease risk, impacting a greater number of horses. Recent advances in technology now allow for rapid discovery of new Mendelian disease mutations and developing genetic risk assessments for complex, polygenic traits. Thus, it is necessary for clinicians to understand how to interpret these tests and conduct conversations about disease risk, preventative management, treatment, and breeding recommendations based on genetic test results. This panel discussion will be led by a group of equine internists who are actively researching complex genetic diseases in horses and other species. The session will start with a brief research update (~15 minutes) on several complex genetic diseases. We will then shift to a panel discussion around several key issues in complex genetic diseases including: 1. Breeding recommendations, 2. Interpretation of polygenetic testing, 3. Assessment of commercial genetic test validity, and 4. the future of clinical genomics, including diagnostic whole genome sequencing. During the panel discussion, we will use Poll Everywhere so audience members can post questions which will be prioritized during the panel discussion.