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CC BY-NC-ND 4.0 · Yearb Med Inform 2022; 31(01): 106-115
DOI: 10.1055/s-0042-1742513
Section 1: Bioinformatics and Translational Informatics
Survey

Translational Bioinformatics to Enable Precision Medicine for All: Elevating Equity across Molecular, Clinical, and Digital Realms

Alice Tang   *
1   Bakar Computational Health Sciences Institute, UCSF, San Francisco, CA, USA
2   Graduate Program in Bioengineering, UCSF, San Francisco, CA, USA
3   School of Medicine, UCSF, San Francisco, CA, USA
,
Sarah Woldemariam   *
1   Bakar Computational Health Sciences Institute, UCSF, San Francisco, CA, USA
3   School of Medicine, UCSF, San Francisco, CA, USA
,
Jacquelyn Roger   *
1   Bakar Computational Health Sciences Institute, UCSF, San Francisco, CA, USA
4   Graduate Program in Biological and Medical Informatics, UCSF, San Francisco, CA, USA
,
Marina Sirota
1   Bakar Computational Health Sciences Institute, UCSF, San Francisco, CA, USA
5   Department of Pediatrics, UCSF, San Francisco, CA, USA
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Summary

Objectives: Over the past few years, challenges from the pandemic have led to an explosion of data sharing and algorithmic development efforts in the areas of molecular measurements, clinical data, and digital health. We aim to characterize and describe recent advanced computational approaches in translational bioinformatics across these domains in the context of issues or progress related to equity and inclusion.

Methods: We conducted a literature assessment of the trends and approaches in translational bioinformatics in the past few years.

Results: We present a review of recent computational approaches across molecular, clinical, and digital realms. We discuss applications of phenotyping, disease subtype characterization, predictive modeling, biomarker discovery, and treatment selection. We consider these methods and applications through the lens of equity and inclusion in biomedicine.

Conclusion: Equity and inclusion should be incorporated at every step of translational bioinformatics projects, including project design, data collection, model creation, and clinical implementation. These considerations, coupled with the exciting breakthroughs in big data and machine learning, are pivotal to reach the goals of precision medicine for all.

Keywords

Bioinformatics - health equity - genomics - precision medicine

* Co-first Authors




Publication History

Article published online:
04 December 2022

© 2022. IMIA and Thieme. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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