Genomic Medicine

Around the world, researchers, clinicians, and the general public are recognizing the integral role of genomics within numerous areas of health and medicine. To position the Department of Medicine at the forefront of this rapidly expanding landscape in the era of precision medicine, Mount Sinai has established a Division of Genomic Medicine. The mission of the Division of Genomic Medicine is to advance, implement, and scale genomic approaches to improve the diagnosis, treatment, and prevention of disease.

Over 140,000 commercial genetic tests are now available, with more added every day. However, the scarcity of genetics experts in healthcare, including medical geneticists and genetic counselors, limits the widespread utilization of meaningful genomic information. The need for delivery and interpretation of genomic results adds to growing demands on physicians in primary and specialty care, who are increasingly expected to interpret genomic findings, recognize genomic risk, and assimilate genomics into the care of their patients.

Through patient-centered clinical applications, collaborative research, and innovative outreach and training programs, the Division of Genomic Medicine is dedicated to creating an individualized healthcare experience in which genomic data are a routine part of patient care. This Division supports physicians and scientists across the Mount Sinai Health System to bring genomics into all aspects of medicine.

The creation of this Division underscores Mount Sinai’s commitment to novel scientific discovery and its translation into the practice of medicine.

Over twenty years after its completion, the possibilities of the Human Genome Project are finding their place in medicine. With the advent of increasingly sensitive tools to query, analyze and interpret the genetic code of individuals and populations, we can apply this information to make a difference in patient care and public health. Through genomic screening initiatives the Division of Genomic Medicine pioneers genomics-first approaches to patient care. In close collaboration with the Institute for Genomic Health and other partners across Mount Sinai, the Division promotes scientific excellence in translational genomic research, bringing leading-edge genomic applications into clinical care. To advance the Department’s educational mission, the Division is also enhancing genomic medicine knowledge across the health system, including launching a Genomic Medicine Track for Internal Medicine residents in 2020.

With the rapid growth of genomics and its increasing relevance to clinical care across specialties, our team of physicians and genetic counselors is poised to realize the promise of this new field and bolster its utility in improving patient care.

Mount Sinai’s future reflects its past as a pioneer in genetics research and in leading innovative approaches to the practice of medicine. The Division of Genomic Medicine, established in 2020, is the Department of Medicine’s newest division. Our team brings years of clinical and research expertise in leading-edge genomic applications. In parallel with traditional approaches to the study and diagnosis of genetic disease, the Division leverages genomic tools to preemptively assess risk and optimize health for individuals and populations across our health system.

With an eye toward the future of medicine, the Division of Genomic Medicine marks the start of a new chapter in Mount Sinai’s history.

The ultimate goal of genomics education and research is to positively impact patient care. With that in mind, our 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 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.

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 a number of 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.