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

Yearb Med Inform. 2022 Aug;31(1):106-115. doi: 10.1055/s-0042-1742513. Epub 2022 Dec 4.


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.

Publication types

  • Review

MeSH terms

  • Big Data
  • Biomedical Research*
  • Computational Biology
  • Machine Learning
  • Precision Medicine*