Genomics has had rapid implementation over the past decade, with recent growth in application in oncology, mental health, maternal fetal medicine, solid organ transplantation, and more. Much of the focus has been in perinatal care, ranging from NIPT to rapid whole genome sequencing of NICU patients. This is now expanding to cardiology, neurology, and autoimmune disease, where genomic explanations for so called general maladies are being understood. There has also been much focus on specific drug-gene-action relationships, such that there are now a number of actionable pharmacogenomics examples. While there are exciting opportunities for diagnosis and management of specific disease areas, the application of broad sequencing panel testing gives an important moment impact a patient’s care broadly. Altering disease trajectory across a population is an important way to apply precision genomics at scale. This shift to understanding the broad population and the opportunities to alter a populations disease trajectory is making population health genomics an exciting area for impact.
Learning Objectives:
1. Identify various challenges in implementing genomics from research to practice.
2. Define the impact of pharmacogenomics on a patient’s risk: benefit decision.
3. Explain current approaches to applying genomics panel testing to patient populations