Translational genomics research is truly at the forefront of medical innovation today, and we are proud to be leaders in this field. The Division of Genomic Medicine conducts research in several innovative areas that promise to have a lasting and meaningful impact on clinical care.

In partnership with the Institute for Genomic Health, we carry out novel investigations focused on:

• Utility of genomic screening for medically actionable conditions
• Prevalence and clinical impact of human genetic variation in diverse populations using a genomics-first approach
• Early implementation of polygenic scores in diverse populations for risk stratification in clinical care
• Artificial intelligence and digital solutions to scale genomic medicine

Mount Sinai has been awarded a grant from the National Human Genome Research Institute through the electronic Medical Records and Genomics (eMERGE) Network. In this study, we are recruiting 2,500 adult and pediatric patients from diverse populations to be part of a clinical trial to help advance the use of polygenic risk in the clinical setting. We are proud to be part of this innovative next phase of the eMERGE Network.

A strong genomics foundation is crucial to the overall understanding of patient health, disease, and treatment. The Division of Genomic Medicine’s educational mission is to actively engage current and future leaders of medicine in the rapidly expanding field of genomic medicine. To that end, we have created a genomics curriculum for all interns in the Internal Medicine Residency Program at The Mount Sinai Hospital. Additionally, we launched the first-of-its-kind Genomic Medicine Track in Internal Medicine Residency for those interested in gaining a deeper knowledge of genomics and its applications to clinical care.

The new Genomic Health Clinic engages directly with individuals seeking one-on-one genomic risk evaluation and testing. This clinic is one of only a few in the country offering guidance to adults interested in proactive testing to potentially diagnose, predict, or prevent a variety of diseases. Testing can include a limited set of genes considered to be medically actionable to a broad range of thousands of genes (exome sequencing). Our geneticists and genetic counselors also help patients understand the implications of their genetic test results, including those from direct-to-consumer testing that may have been performed outside of the clinic.

The Division of Genomic Medicine also supports the implementation of genomic screening in primary care practices across the Mount Sinai Health System. In addition to these patient-facing programs, we offer guidance to clinicians through eConsults in the electronic health record.