Interpreting genetic test results for ocular disorders: The basics of molecular diagnosis through application of results, by Dr. Kristy Lee
Kristy Lee, MS, CGC, University of North Carolina (UNC)
https://www.med.unc.edu/genetics/directory/kristy-lee/
Description
"Interpreting genetic test results for ocular disorders: The basics of molecular diagnosis through application of results, by Dr. Kristy Lee"
Genetic testing options for ocular disorders are expanding and becoming more widely used in clinical care. However, genetic testing results are not always easy to interpret or informative. This presentation will provide a basic overview on how gene variants are evaluated for pathogenicity, as well as highlight some of the challenges and pitfalls with interpreting genetic testing results and offer guidance on sharing results with patients.