Eimear Kenny
Icahn School of Medicine at Mount Sinai, NY·Genetics
Many common diseases arise from the combined effects of many genetic variants, each with a small influence. Polygenic risk scores (PRS) add up these effects to estimate a person's inherited risk.
- Fields
Genetics
Medicine & Clinical Research
Public Health & Epidemiology
- Topics
polygenic risk score
genomic medicine
genomic risk assessment
- Grants
- 1 known grant, through Apr 2027
What they work on
- Develop robust clinical polygenic risk score (PRS) tests and combine them with standard clinical risk factors and family history to generate genomic risk assessments for up to 15 common diseases.
- Enroll 2,500 adult and pediatric New York City patients in a clinical trial and measure how returning genomic risk results affects understanding, trust and uptake of risk-reducing interventions by patients and their physicians.
- Explore patient attitudes, barriers and communication preferences about genomic risk assessment, and use these findings to design a patient-facing digital platform for education and results delivery.
- Track patient engagement with genomic risk results through the digital platform and assess how individualized risk assessments affect patient-reported psychosocial outcomes and experiences.
More about the research
They could help doctors decide who needs earlier screening or preventive care. Using them in routine care is still hard. Access to genomic testing is limited, and patients and doctors often do not act on the medical recommendations. How busy health systems should bring genomic risk into the clinic remains unclear.
Why it matters
Patients could benefit from knowing their inherited risk for common diseases early enough to act on it. Doctors and health systems need evidence on how to deliver that information well. By measuring whether combined genetic and clinical risk reports lead NYC patients and physicians to take risk-reducing steps, and how patients feel about the results, this work could inform how health systems use genomic risk in routine preventive care more efficiently.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Nita A Limdi
University of Alabama at Birmingham, AL·Medicine & Clinical Research·Early-career
Analyze 12-month electronic health record outcomes from the eMERGE IV network to test whether returning high-risk genome-informed risk assessments, which combine polygenic, monogenic and family history risk, leads to new preventive and screening actions.
Vikas Pejaver
Icahn School of Medicine at Mount Sinai, NY·Genetics
Apply the team's previously developed variant impact predictors to large NIH Common Fund genomic data sets, such as Gabriella Miller Kids First and the Undiagnosed Disease Network, to identify known and predicted disease-associated variants.
Sai Zhang
Yale University, CT·Genetics
Develop a sequence-based deep learning model, trained on single-cell and individual-level data, that predicts gene expression from DNA sequence and estimates how genetic variants alter gene activity in each cell type.
The school
Icahn School of Medicine at Mount Sinai: 45 labs on PI Pages, $1.0B a year on research, 62 research doctorates a year.
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