The Institute for Genomic Health is accelerating the integration of genomics into clinical care throughout the Mount Sinai Health System, changing the way we practice medicine. We are transforming health care through the application of artificial intelligence to mine deep databases of genomic information and the development of digital health tools to enable patients and medical professionals to be more fluent in genomics.
Population genetics explores genetic differences both within and between populations and individuals over time. This primarily encompasses the quantitative study of genotypes and phenotypes within the context of historical demography. Improved next-generation sequencing technologies, increased scalability in genetic data processing, and impressive global data-sharing initiatives provide unprecedented research opportunities, allowing us to understand the links between ancestry, genetics, and health outcomes.
Our overall goal is to characterize human genetic ancestry in order to inform better models for clinical medicine. We achieve this using advanced statistical and probabilistic modeling and inference to determine genetic associations, subpopulations, and relatedness.
The Institute for Genomic Health has initiated clinical and research pilot genomic screening programs. Through these initiatives, patients and research participants have the opportunity to receive genomic results that are of high medical importance in a predetermined subset of genes. This means that medical interventions are available to reduce the impact of a disease or even prevent a disease altogether. Hereditary breast and ovarian cancer is one example of a common genetic condition with disease-altering interventions available. As such, an individual who learns that she or he has a genetic susceptibility to cancer can increase screening to help identify a cancer earlier or use preventive medical and surgical interventions to reduce cancer risk. Other examples include cardiac conditions for which there are treatments available.
Through genomic screening, we aim to improve health outcomes by using a genomics-first approach to identify disease risk and empower individuals to manage their risk.
An overarching goal of the Institute of Genomic Health is to develop and study best practices for genomic medicine implementation in racially and ethnically diverse populations. We are part of NYCKidSeq, a multi-institutional program that is exploring whether whole-genome sequencing provides more useful results than traditional gene sequencing panels in finding the genetic cause of health problems in children from all five boroughs of NYC.
We are redefining the way genomic information is communicated through the development and evaluation of novel software applications that promote efficient and user-friendly communication of genomic results between clinicians and laboratory personnel, and genetic counselors and families.