Clinical Genomics

Broad Institute scientists sequence and analyze genomes from patients to generate information that doctors, patients, and researchers can act on — diagnosing rare diseases, assessing risk for common conditions, and supporting clinical trials that may bring new therapies to patients.

How are Broad genomics technologies used in the clinic?

Broad Institute genome sequencing and analysis technologies reach patients mainly through Broad Clinical Labs (BCL), a CLIA-certified, CAP-accredited nonprofit subsidiary of the institute. BCL runs whole genome and whole exome sequencing at scale, and generates clinical-grade results that can and have been used to guide medical decisions. BCL scientists also work with health systems and drug developers to develop genetic tests and support clinical research.

BCL also helped develop one of the sequencing approaches it regularly uses to analyze patients’ genomes: the blended genome exome, which lowers the cost of sequencing by 75 percent and is now powering a clinical trial on prostate cancer risk prediction.

How is genomics used to assess risk of common disease?

A person’s risk of developing a common disease, such as heart disease and diabetes, is influenced in part by the combined, small effects of thousands of genetic variants across the genome. A polygenic score adds up those effects to estimate a person's inherited risk of disease. BCL works with several collaborators to offer genetic tests that use polygenic scores to assess a patient’s risk for a range of diseases including coronary artery disease, high cholesterol, type 2 diabetes, and certain types of cancer.

How can genomics be used to help diagnose rare disease?

Patients with a suspected genetic disorder caused by a mutation in a single gene often struggle to get a genetic diagnosis. Sequencing a patient’s genome can help provide answers. The Broad’s Rare Genomes Project has worked with more than 1,000 families to find diagnoses. Broad researchers have also led or co-led the development of several resources used by clinical geneticists to diagnose rare disease patients, including:

gnomAD, a large human genetic variant reference database that is used by virtually all clinical genetics labs in the US and worldwide
Matchmaker Exchange, which matches rare disease patients around the world with similar symptoms and genetic profiles to help improve their chances of a diagnosis
ClinGen, an NIH-funded resource that helps clinical labs determine whether a certain genetic variant causes disease
Seqr, an open-source, web-based tool for rare disease genetics analysis that has supported rare disease diagnosis and gene discovery