Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Jodell E Linder1, Aimee Allworth2, Harris T Bland3
1Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Summary
Integrated genetic risk assessment reports, combining clinical, monogenic, and polygenic risks, can inform preventive care for individuals at high genetic risk.
Area of Science:
- Genomics
- Preventive Medicine
- Clinical Risk Assessment
Background:
- Assessing complex disease risk requires integrating clinical factors, family history, and genetic predispositions (monogenic and polygenic).
- Communicating genetic risk information to individuals and healthcare providers can guide preventive strategies and prophylactic treatments.
Purpose of the Study:
- To develop and evaluate a novel genome-informed risk assessment (GIRA) report for integrated genetic risk assessment.
- To assess the uptake of care recommendations following the return of GIRA results.
Main Methods:
- The electronic MEdical Records and GEnomics (eMERGE) network is conducting a prospective cohort study of 25,000 diverse participants across 10 sites.
- Methods were developed to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a GIRA report.
Main Results:
- The GIRA report includes summary care recommendations for 11 conditions, educational materials, and clinical laboratory findings.
- High-risk GIRA reports provide care and lifestyle guidelines for individuals and providers.
- Infrastructure and workflows were established for content integration and presentation.
Conclusions:
- A novel report communicating integrated genetic risk factors (monogenic, polygenic, family history) demonstrates the value of genetic risk assessment in routine healthcare.
- This approach has the potential to improve preventive care and patient outcomes.
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