Accelerating precision medicine: a proposed framework for large-scale multiomics data integrity, interoperability, analysis, and collaboration in biomedical discovery

Abstract

Objective: To identify and define a process and framework for biomedical discovery research. Our study aim was to characterize the biomedical discovery lifecycle across data modalities and professional stakeholders involved in biomedical research to address the multiomics data challenges of precision medicine. Materials and Methods: We recruited fifteen professionals from various biomedical roles and industries to participate in 60-minute semi-structured interviews, which involved an assessment of common challenges, needs, tasks, and data management methods and a brainstorm exercise to validate each professional's biomedical research process. We applied a qualitative analysis of individual interviews using a constant comparative approach for emerging themes. Results: We found a general process of biomedical discovery across all participants that consisted of four key stages: data plan, data integrity, data analysis, and data-driven discovery. Within each stage of the process, participants highlighted their challenges and needs and emphasized the importance of data integrity and interoperability, particularly during data hand-offs. The process extends across three general levels of data, including non-human, non-clinical human, and clinical human data, to define an overarching framework for biomedical discovery research. Conclusions: The proposed framework provides researchers with an opportunity to align workstreams and converge on a single process to conduct biomedical research across stakeholders and data types. Key opportunities were found that can be explored in the health technology space, including generative artificial intelligence, to help tackle multiomics data challenges to advance precision medicine.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This study was funded by Microsoft Research.

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

The IRB of Microsoft Research gave ethical approval for this work.

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Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

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I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

Yes

Data Availability

All data produced in the present study are available upon reasonable request to the authors.

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