The Massachusetts General Hospital (MGH) Center for Genomic Medicine (CGM) is leading an effort to complete the genomic medicine cycle — from genetic discoveries to mechanism to the clinic — by assessing where genomic medicine will have the greatest impact on human health, and by driving efforts to implement genomic medicine in those areas, at MGH and beyond.

The Cycle is a paradigm for disease research that begins by comparing human phenotypes and genetic variation to identify genes of importance in human disease, then moves on to characterizing the mechanisms by which the underlying DNA differences lead to disease, and is completed when the knowledge gained delivers benefit back to patients in the forms of improved diagnosis, disease management and treatments.

Populations to Variants

Describes comprehensive identification of human genetic variation (agnostic to disease process or phenotype)

Explore our projects in this focus area >

Variants to Diagnosis & Treatment

Use of understanding gained in the genomic medicine cycle to refine treatment, diagnosis, or promote new therapeutics for rare or common human disease.

Variants to Diseases & Traits

Process of associating human genetic variation that has been identified with specific traits, including diseases or wellness.

Variants to Function & Mechanism

Determining the detailed mechanisms by which variants in the human genome or genes associated with human genetic variants operate to contribute to disease or health/wellness.