Nita A Limdi
University of Alabama at Birmingham, AL·Medicine & Clinical Research·Early-career
Genetic tests can now show that a person faces a higher risk of heart disease, certain cancers, kidney disease or diabetes, or that they may respond poorly to a medicine. Yet this information is rarely used in everyday medical care.
- Fields
Medicine & Clinical Research
Genetics
Public Health & Epidemiology
- Topics
genomic medicine
pharmacogenomics
pharmacogenetics
- Grants
- 4 known grants, through Feb 2031
What they work on
- 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.
- Assess how providers and participants adopt the risk-reduction recommendations in GIRA reports for 11 chronic conditions, including chronic kidney disease and type 2 diabetes, using quality-checked and harmonized network-wide outcome data.
- Implement population genomic screening in primary care for 5,000 participants, covering hereditary breast and ovarian cancer, Lynch syndrome, familial hypercholesterolemia, transthyretin amyloidosis, hypertrophic cardiomyopathy and APOL1 kidney disease.
- Evaluate participant outcomes over 24 months after screening results are returned, and test how the chosen implementation strategies, shaped with clinicians and community members, affect the adoption of genomic screening in primary care.
- Build the SouthEast GEnomic Medicine eConsult Service (SE-GEMS) across Alabama and Tennessee, and measure its reach, usability, adoption and clinical impact on the Epic and Cerner EHR platforms using the RE-AIM framework and mixed methods.
- Identify barriers and facilitators to genomic eConsult services using the Consolidated Framework for Implementation Research, and develop a transferable toolkit of best practices for other health systems.
- Determine how sex and age modify the association between genetic variants and hemorrhage (serious bleeding) in patients taking anticoagulants, and how pharmacogenetic variants alter apixaban and rivaroxaban levels and effects.
- Evaluate bleeding risk scores, with and without added genetic information, and the influence of heart failure on outcomes in acute coronary syndrome patients undergoing percutaneous coronary intervention.
More about the research
This research asks how genetic information, combined with clinical and family history, can be used to predict disease and drug response, and how to bring that information into routine practice so that doctors act on it. The projects span large real-world programs that return genetic risk results to patients and primary care clinics, a regional service that lets clinicians consult genomic medicine experts, and studies of how genes, age, sex and other conditions shape the safety of heart medications. Common methods include analysis of electronic health record (EHR) data, outcome tracking over time, surveys and mixed-methods evaluation, and implementation science (the study of how new practices are adopted in real health systems).
Why it matters
Many people carry a genetic risk for conditions such as inherited breast and ovarian cancer, Lynch syndrome, high cholesterol, heart disease or kidney disease without knowing it. Building workable ways to screen for this risk in primary care, return results, and give clinicians expert genomic advice could lead to earlier screening and prevention, including in underserved Southeastern communities. Better genetic and clinical predictors of bleeding could help doctors choose safer blood thinners and heart treatments for individual patients.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Eimear Kenny
Icahn School of Medicine at Mount Sinai, NY·Genetics
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.
Marguerite Irvin
University of Alabama at Birmingham, AL·Public Health & Epidemiology
Identify genetic variants that predict blood pressure response to chlorthalidone (a diuretic) or lisinopril (an ACE inhibitor) in more than 6,500 African Americans from the randomized GenHAT trial, with validation through the ICAPS consortium.
Nosheen Reza
University of Pennsylvania, PA·Medicine & Clinical Research·Early-career
Build and validate a machine learning model that detects hypertrophic cardiomyopathy from electrocardiograms in Penn Medicine electronic health record data, and test whether adding other EHR-derived traits improves detection.
The school
University of Alabama at Birmingham: 45 labs on PI Pages, $866M a year on research, 166 research doctorates a year.
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