# Integrated Knowledge Management Framework for Clinical Genomics

> **NIH NIH R35** · MAYO CLINIC ROCHESTER · 2022 · $477,000

## Abstract

PROJECT SUMMARY/ABSTRACT
The rapid growth of genomic medicine reflects increases in our understanding of how genomics impacts
health. Advances in the clinical utility of patient genomic information to inform diagnostic and therapeutic
decision-making are driving increases in testing and the subsequent reporting of genomic data to electronic
health records (EHRs) and other clinical systems. Germline genomic data are presumed to be stable over a
patient’s life, but the interpretation of those data and its clinical utility will continue to evolve as new discoveries
are made and translated to clinical practice. Furthermore, modern interpretations of genomic data often include
multi-step processes in which one interpretation is used to inform another. The temporally dynamic nature of
genomic information and knowledge (GIK) and the inter-dependencies among interpretations make a formal
knowledge model for those data essential. Existing approaches to represent and manage GIK are not sufficient
to fully support the needs of genomic medicine and thus a new approach must be developed.
The specific objective of this research program is to develop and evaluate the Genomic Interpretation and
Knowledge (GenIK) Framework for capturing interpretations related to clinical genomic results as
standardized, structured data. The GenIK framework will: 1) facilitate more robust integration of genomic data
into EHRs; 2) enable scalable knowledge management; 3) enable utilization of GIK by other systems; 4)
enable clinical, translational, and discovery research; and 5) enable meaningful data sharing of GIK. Moreover,
because the framework will be based on a generalized, standards-based knowledge model, it will elegantly
extend to support new types of genomic interpretations and uses for those data. The GenIK framework will fill a
critical gap in the representation, management, and delivery of GIK, thereby advancing genomic medicine.
The proposed research program will develop foundational resources that will enable more seamless integration
of genomics within both research and clinical settings. Research Area 1 will focus on discovery activities that
support the development of the GenIK framework. Research Area 2 will focus on the translation and
application of the GenIK framework within clinical systems. Research Area 3 will focus on dissemination to
and engagement with stakeholder communities. The main hypothesis of this research is that implementations
based on the GenIK framework will more fully capture GIK than existing approaches, thereby improving the
management, use, and sharing of GIK.
The Genomic Innovator Award will enable, in team-science projects and in collaboration with genomic research
consortia, the study of the requirements for and implementation of scalable GIK management within clinical
systems. The resources developed by the proposed research program will allow the capture and exchange of
GIK to take place at the speed of discovery, supporting researc...

## Key facts

- **NIH application ID:** 10487474
- **Project number:** 5R35HG011899-02
- **Recipient organization:** MAYO CLINIC ROCHESTER
- **Principal Investigator:** Robert Richard Freimuth
- **Activity code:** R35 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $477,000
- **Award type:** 5
- **Project period:** 2021-09-10 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10487474

## Citation

> US National Institutes of Health, RePORTER application 10487474, Integrated Knowledge Management Framework for Clinical Genomics (5R35HG011899-02). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10487474. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*