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Developing a framework for the clinical translation of multi-omic technologies in rare diseases

Award Number: R01HG014572
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/03/2026
PERIOD OF PERFORMANCE END DATE: 06/30/2030

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Developing a framework for the clinical translation of multi-omic technologies in rare diseases - PROJECT SUMMARY In 2024, multi-omic research reached $2.9 billion in global investment, including over $1 billion from the NIH. Multi-omic technologies, which integrate data from the genome, epigenome, transcriptome, proteome, and metabolome, offer a comprehensive view of biological processes and disease mechanisms. Multi-omic technologies are evolving rapidly, with some already launched into the clinic, but the lack of consistent approaches for clinical translation presents a significant barrier to their effective and ethical implementation. Rare genetic diseases affect millions of people in the United States and require advanced diagnostic methods for effective treatment. Guidance for the ethical and evidence-driven clinical translation is critical for realizing the potential of multi-omic technologies to understand and treat rare diseases. There is an urgent need to understand how to apply genomics clinical translation frameworks to multi-omic technologies. The unique nature of multi-omic data complicates this. Our preliminary work shows that inconsistent evaluation of genomics frameworks contributes to variability in the application of multi-omic technologies, causing uncertainty for clinicians and patients. Our project aims to systematically determine the gaps and challenges for the application of existing frameworks to multi-omics and to develop new guidance that is needed for the ethical, clinical translation of multi-omic technologies. In Aim 1, we will identify and assess gaps and uncertainties in current genomics frameworks for the clinical translation of multi-omic technologies for rare disease through a “best fit” framework synthesis. In Aim 1a, we will conduct a scoping review of existing genomics and health technology frameworks. We will also perform an ongoing landscape analysis to stay abreast of the quickly changing multi-omics space. In Aim 1b, we will characterize current challenges and perspectives of multi-omic clinical translation through semi-structured interviews with multi-omic scientists, clinical experts, patients, ethicists, and policymakers. The product of this aim will be a conceptual model of gaps and uncertainties in applying current translational frameworks. In Aim 2, we will evaluate the conceptual model and develop recommendations for applying and updating current genomics frameworks for the concurrent clinical translation of multi-omic technologies using a modified Delphi study to reach a consensus among relevant experts. We will disseminate the final recommendations through multi-omics research networks and an open science online “living playbook.” This proposal aims to conceptually model gaps in existing clinical translational frameworks and disseminate recommendations that map where new guidance is needed for the clinical application of multi-omic technologies, serving as a reliable resource for professional organizations and policymakers globally. Our work will facilitate the shift from genomic to multi-omic clinical care for rare diseases and inform future research into broader implementation in population health.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $545,647 )
2026	2026	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	1	9/4/2026	NEW	$545,647
														Subtotal = $545,647

Grand Total All Awards = $545,647

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Developing a framework for the clinical translation of multi-omic technologies in rare diseases

Award Number: R01HG014572

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 09/03/2026

PERIOD OF PERFORMANCE END DATE: 06/30/2030

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