ML/AI Tools to Advance Genomic Translational Research (MAGen)

Contributing NIH Institutes:
National Human Genome Research Institute (NHGRI)
National Institute on Aging (NIA)
Office of Data Science and Strategy (ODSS)

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Background
Program Goals
Concept Clearance

Events
Funding Opportunities
Program Staff

Background

The need for increased research to develop tools to translate genomic research findings into clinical applications has been highlighted by NHGRI-convened workshops. ML/AI techniques have successfully identified novel patterns in non-genomic clinical datasets, receiving FDA approval for ML/AI-enabled medical devices in fields such as radiology, cardiology, and various other disciplines of medicine. Vast amounts of multimodal data are available through advances in FAIR sharing standards and policies, facilitating the potential of using ML/AI approaches in translational genomics. There is a need to utilize advances in technologies to translate genomic research findings into tools for potential future clinical applications that is we need tools that bridge basic and implementation research referred to in this initiative as, genomics translational research tools developed with disease expert involvement from the design through development and testing. Maximizing the potential of ML/AI requires thoughtful attention to the ethical, legal, and social implications (ELSI) of its use in genomic medicine and healthcare more broadly. The long-term vision for successful tools would be to test them in clinical implementation settings.

Program Goals

NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will leverage existing multimodal genomic and non-genomic data and will be cross validated in genomic translational research settings to ensure the robustness and generalizability of the tools for translational purposes. Importantly, the Consortium will explore the ethical, legal, and social implications (ELSI) of integrating ML/AI tools into genomic medicine through the establishment of an ELSI Framework for their development, and through implementation of ELSI research projects.

The Consortium will compose of MAGen Development Sites with multi-disciplinary teams to develop the ML/AI tools and the MAGen Coordinating Center which will be responsible for technical, scientific, and administrative coordination activities to support the Consortium research activities including development of Consortium wide plans, coordinated ELSI-informed ML/AI tool development and cross validation, and dissemination of the developed resources.

Concept Clearance

From the September 18th, 2023, NHGRI Advisory Council Meeting
Concept Clearance Presentation
Concept Document (PDF)

Events

MAGen NOFO Webinar
June 26, 2024

Frequently Asked Questions

Funding Opportunities

RFA-HG-24-004: ML/AI Tools to Advance Genomic translational Research (MAGen) – Development Sites (UG3/UH3, Clinical Trials Not Allowed)
Application Due Dates: July 26, 2024|
Expiration Date: July 29, 2024

RFA-HG-24-005: ML/AI Tools to Advance Genomic Translational Research (MAGen) - Coordinating Center (UG3/UH3, Clinical Trials Not Allowed)
Application Due Dates: July 26, 2024
Expiration Date: July 29, 2024

Related Funding Announcements: