Improving Rare Disease Diagnostics With Multiomics
- Short-read whole genome sequencing has revolutionised the diagnosis of rare diseases in clinical services, but nonetheless still only 25-30% of patients achieve a diagnosis
- New ‘omics approaches including long-read sequencing and epigenetic profiling, transcriptomics, proteomics, and metabolomics offer the potential to increase this proportion, including in non-European ancestry patients
- Genomics England’s rare disease program pilot analyses suggest that using combinations of these approaches may lift the overall proportion of rare disease patients receiving a genetic diagnosis to over 40%, of great benefit to the families concerned