Developing diagnostics and treatments
At the Broad Institute, researchers are revealing deep biological insights about the causes of disease, which are leading to new ways to monitor, diagnose, and treat patients with greater precision. These include new tools that help predict diseases well before symptoms appear, and more effective therapeutics that reduce the chance of relapse or drug resistance.
Using genomics to predict disease risk
Predicting a person’s genetic risk for many common diseases by scanning subtle variants across the genome
Researchers can analyze information from millions of places in the genome to study traits or determine inherited risk for major diseases. In many cases, people with a high risk for a disease due to numerous genetic variants scattered across the genome are not aware of it. A test called polygenic scoring could benefit many patients by flagging those with a greater likelihood of developing potentially fatal conditions well before any symptoms appear. This information could allow physicians to focus on these individuals and even act early to prevent disease. At the Broad Institute, scientists are working to build, expand, and apply polygenic scores to help transform health care for patients with illnesses such as cardiovascular disease, atrial fibrillation, and breast cancer.