Whole Genome Sequencing: A New Diagnostic Tool for Rare Diseases

Use of genome sequencing in rare disease diagnosis

The study developed a diagnostic pipeline that automates the processing of genomic data, including the millions and millions of variants in each genome. This allows for a more accurate clinical interpretation. The study also developed an automated diagnostic pipeline to streamline the genomic data, including the millions of variants present in each genome, for clinical interpretation. Exomiser is a software that Robinson developed in 2014 and was used by the researchers and clinicians to build their pipeline. Exomiser, a software tool that Robinson co-developed in 2014, uses a phenotype match algorithm to help with the diagnosis process. It automates finding rare, predicted pathogenic and segregating variants of genes where the patient’s phenotypes are in line with previously referenced information from databases on human disease or model organisms. In the paper, it was stated that the use of Exomiser greatly increased the number successful diagnoses.

The future of genomics

It is not surprising that the conclusions of the paper support the use of whole genome sequencing to diagnose rare disease patients. Genome sequencing is the NHS’s first-line test for patients with certain disorders, such as intellectual disabilities. The paper emphasizes that the HPO is a valuable tool for establishing a standard, computable, clinical vocabulary. This provides a solid basis for all genomics-based diagnosis, not only those for rare diseases. The 100,000 Genomes Project will continue its work and the HPO is an important part of improving the prognosis for patients through genomics.

Source:
https://www.jax.org/news-and-insights/2021/november/applying-genome-sequencing-to-rare-disease-diagnoses