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Francisco Ricci



Job Title

Resaerch Enrollment Coordinator

Academic Rank


Partners Center for Personalized Genetic Medicine


Francisco Ricci, Jocelyn Fournier, Lizbeth Gomez, Emma Perez, Benjamin Kerman, Elizabeth W. Karlson

Principal Investigator

Elizabeth W. Karlson

Research Category: Genomics


Returning integrated genomic risk and clinical recommendations: the eMERGE study at Mass General Brigham

Scientific Abstract

Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those at high genetic risk.

Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores (PRS), monogenic risks, family history, and clinical risk factors via a Genome Informed Risk Assessment (GIRA) report and will assess uptake of care recommendations after return of results.

Results: GIRA includes summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high risk GIRA to individuals and providers includes care guidelines for screening and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022.

Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history, and clinical risk factors will inform the benefits of integrated genetic risk assessment into routine health care.

Lay Abstract

The goal of the study is to learn if a patient is at high risk for developing common conditions such diabetes or heart disease. The eMERGE Study will analyze a patient’s genes, health habits, and family history to create a report that may help doctors catch disease early or even prevent them.

The Genome Informed Risk Assessment (GIRA) is the overall health risk report from this research study. The GIRA includes recommendations for the patient and their doctor for 11 conditions, education pages, and clinical laboratory genetics reports. This report will contain information about polygenic risk scores (PRS). Historically, genetic data came mostly from people of European descent. In this study when possible, the PRS results have been validated in people from four populations: Asian, African, European, and Hispanic/Latino descent. The goal of the network is to enroll 25,000 patients that will represent the diversity of the country across 10 sites, including Mass General Brigham. This study will inform the benefits of returning the GIRA to individuals and their providers. Recruitment began in February 2022.

Clinical Implications

The study aims to provide patients and providers with comprehensive risk information for common conditions. Stratifying individuals by risk creates the opportunity to direct preventative treatment and screening towards these high risk individuals building on current standards of care.