Implementation of multi-omics in diagnosis of pediatric rare diseases.

Abstract

The rapid and accurate diagnosis of rare diseases is paramount in directing clinical management. In recent years, the integration of multi-omics approaches has emerged as a potential strategy to overcome diagnostic hurdles.

This review examines the application of multi-omics technologies, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, in relation to the diagnostic journey of rare diseases.

We explore how these combined approaches enhance the detection of pathogenic genetic variants and decipher molecular mechanisms.

This review highlights the groundbreaking potential of multi-omics in advancing the precision medicine paradigm for rare diseases, offering insights into future directions and clinical applications.

IMPACT: This review discusses using current tests and emerging technologies to diagnose pediatric rare diseases. We describe the next steps after inconclusive molecular testing and a structure for using multi-omics in further investigations.

The use of multi-omics is expanding, and it is essential to incorporate it into clinical practice to enhance individualized patient care.

References:

Haendel, M. et al. How many rare diseases are there? Nat. Rev. Drug Discov. 19, 77–78 (2020).
Batshaw, M. L., Groft, S. C. & Krischer, J. P. Research into rare diseases of childhood. JAMA 311, 1729–1730 (2014).
Yang, G. et al. The national economic burden of rare disease in the United States in 2019. Orphanet J. Rare Dis. 17, 163 (2022).
Wekesa, J. S. & Kimwele, M. A Review of Multi-Omics Data Integration through Deep Learning Approaches for Disease Diagnosis, Prognosis, and Treatment. Frontiers in Genetics 14 (2023).
Collins, F. S. & Fink, L. The human genome project. Alcohol Health Res World 19, 190–195 (1995).

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Doi:

10.1038/s41390-024-03728-w

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Nature Publishing Group

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