The impact of integrated omics technologies for patients with rare diseases

Abstract

Introduction: New omics technologies enabling the efficient, low-cost and large-scale generation and analysis of biomedical data have revolutionised research in rare diseases, offering new methods to identify novel disease and modifier genes, elucidate disease mechanisms, discover biomarkers, and ultimately identify novel therapeutic targets.

Areas covered: An overview is provided of the omics fields of relevance for rare disease: genomics, transcriptomics, proteomics, metabolomics and pharmacogenomics. This is followed by a discussion of the challenges that remain in maximising the potential of these technologies and translating them to clinical benefit, particularly the requirement for large-scale collaboration and data sharing.

Expert opinion: The rapid uptake of omics approaches has resulted in major advances in rare disease research and led to an exponential growth in data generation. Data analysis and interpretation is now the major rate-limiting step, and the development of integrated approaches in which data from high-throughput omics technologies can be analysed together and linked to clinical phenotypes and information from registries and biobanks is key. Although this is the best opportunity for rapid progress in stratified and personalised medicine, it requires a change in the traditional mindset of the scientific and clinical community towards greater openness to data sharing.

Keywords::

• data sharing
• genomics
• health informatics
• metabolomics
• omics technologies
• pharmacogenomics
• proteomics
• rare disease
• transcriptomics

Acknowledgement

L Johnston and R Thompson contributed equally to this work. The authors thank Peter A. C. ‘t Hoen for in-depth review and discussion of the manuscript and Justin Paschall for input on informatics.

Notes

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