The Institute for Genomic Health

Our Research

Our mission is to use health systems data to drive genomic discovery, and to translate scientific knowledge into new applications of genomic information in routine clinical care. Faculty at the Institute for Genomic Health collaborate on many aspects of basic and translational research with an emphasis on diverse populations. We promote a culture of transdisciplinary research at the intersection of genomics, medicine, computer science, and health equity. Our ambition is to be at the forefront of providing scientific solutions and medical innovation to the diverse patients at Mount Sinai through our local collaborations and international partnerships.  

Genomic Discovery at a Massive Scale

Genomic technology is driving the biggest databases of knowledge we know of today.  The emergence of health systems-based biobanks offers an unprecedented opportunity to examine the health impact of disease-associated genes and variants in real-world settings. The wide range of genetic, demographic, clinical, and lifestyle data in biobanks is helping to accelerate the discovery of variants that contribute to the risk for both rare syndromes and common diseases. However, current genomic databases are heavily skewed toward representing populations of European descent. At our Institute, we integrate population genetics, machine learning, functional genomics, and clinical informatics approaches to drive genomic discovery efforts tailored for diverse populations.


Mount Sinai Resources

International Collaborations

Translating Genomic Information into Medical Knowledge

Genomic data linked to health systems data can be a powerful conduit for translating genomic discovery into medical knowledge. We are using health system data to gain a better understanding of the prevalence, clinical impact, and comorbidities associated with a particular variant. Our research is also looking to enable partial automation of the diagnosis of genetic disease and to understand disease progression using clinical informatics approaches. We are developing novel software applications that promote efficient and user-friendly communication of genomic results between clinicians, laboratory personnel, genetic counselors, and families.


Clinical Trials

Digital Tools

  • GUIA app for talking with patients about genomics
  • GenomeDiver app for reverse phenotyping for medical genomics

National Collaborations

Centering Genomic Information at the Front Line of Clinical Care

Advances in genomic technology and research have led to rising expectations for genomics to widely contribute to clinical care. However, it can take many years for genomic discoveries to directly benefit patients. The reasons for this include lack of infrastructure to integrate genomics into existing workflows and insufficient evidence of clinical utility. We create programs to accelerate the rate we can bring genomic information into the care of patients in the Mount Sinai Health System. We develop evidence to support when disease-associated variants or aggregate genomic scores (polygenic risk scores) should be used as a screening mechanism for disease prevention and management.



  • eMERGE Polygenic Risk Score Program
  • BioMe Genomic Screening Program