At the Center for Translational Genomics, we are committed to translating insights from leading-edge genomic research into routine medical practice. Since the completion of the Human Genome Project in 2003, we have made great strides in understanding how different genetic markers influence health and disease. Read More.
Variations in the human genome affect many aspects of development and physiology, including susceptibility to common and rare diseases. While diagnostic tests and management plans for rare, monogenic diseases have been successfully implemented in clinical settings, clinical tools for diagnosing and managing common, polygenic diseases are only just starting to emerge.
The Center for Translational Genomics (CTG) at the Icahn School of Medicine at Mount Sinai seeks to improve the reliability, uptake, and integration of polygenic risk scores (PRS) in clinical practice. Our center partners with Mount Sinai Health System clinicians and researchers to develop and validate PRS for common conditions, and to develop strategies for clinical implementation of PRS.
One important consideration in PRS development and implementation is the potential for exacerbating health disparities if their performance is not equal across populations. CTG investigators will leverage Mount Sinai’s diverse biobanks, such as the BioMe Biobank and data from the Mount Sinai Million Health Discoveries Program, to develop and validate PRS appropriate for diverse ancestral groups.
We invite you to collaborate with us in our work to lessen health disparities in genomic medicine and transform the use of genomics in common disease. Please visit our Services page to learn more about that services that we offer and to submit a collaboration request.
The key objectives of the CTG are to:
- Strengthen collaborations between the Institute for Genomic Health and Mount Sinai clinical and research partners.
- Expand genomic medicine implementation at Mount Sinai.
- Improve understanding of how polygenic risk scores relate to clinical practice, within Mount Sinai and beyond.
- Develop and share new tools for creating, testing, and implementing polygenic risk scores in clinical practice.