Abstract

Genomics in Clinical Practice: Patient Stories from the Frontline

Jennifer Friedman, Clinical Professor, Rady Children's Hospital in San Diego

Advances in genome sequencing hold tremendous promise for providing answers, tailored therapies and in some case cures for undiagnosed patients. However, how to interpret and act upon volumes of complex genomic data remains a challenge for sequencing providers, physicians and their patients and families. Uncertain and non-validated results present obstacles in attaining goals of diagnosis and cure. Off-target results may create unforeseen medical and ethical challenges. This presentation will use case-based examples to demonstrate promises and pitfalls encountered in application of genomic sequencing to diagnosis of patients with rare disease.