DNA of a Nation: Nature Magazine Highlights Omicia and the Necessity for Large-Scale Clinical Interpretation for 100,000 Genomes Project

In the recent article “The DNA of a Nation,” Nature magazine highlights the highly-specialized and dedicated clinical interpretation services that Genomics England requires for their 100,000 Genomes Project, which is the first step in bringing genomics to the UK healthcare system. Omicia, the worldwide leader in genome informatics and clinical interpretation, was selected from 28 competing companies to provide interpretation services for the project. Omicia President and co-founder Martin Reese stated, “It’s a clear confirmation and validation of our leadership in the translation of genomics to the clinic.”

Omicia’s Michele Cargill, who is also co-founder of genetic testing company Invitae, will lead Omicia’s participation in the Project as principal investigator. “My role as Omicia’s principal investigator for the 100,000 Genomes Project is two-fold: the first is to make sure that all the patient genome files are properly processed with Opal and relayed back to the Genomics England team. The second is to communicate best practices for interpretation,” said Cargill.

Omicia’s Opal Clinical™ platform will power the interpretation of genomes of patients suffering from rare genetic diseases. Two of Opal’s algorithmic components, VAAST and Phevor, were developed specifically to help labs automate the clinical interpretation of human genomes. While the VAAST algorithm ranks genes by their likelihood to cause a patient’s disease, the Phevor algorithm incorporates data provided from the physician about the patient’s disease symptoms, signs, and clinical indications. Phevor enhances the VAAST rankings by ​statistically correlating the patient’s clinical data to genes with related biological or clinical functions. “Along with the benefit of automation, the greatest value Opal provides for rare disease analyses is the ability to directly incorporate the patient’s clinical data, which enables physicians to be more confident in the accuracy of the interpretation,” says Reese.

“Most other tools rely on a variety of sequential filters and cut-offs,” stated Cargill. “Individual labs apply filters in a different order due to their own preferences, and what you’ll see are different diagnoses from the same patient file. So what I really like about Opal is the ranking system. Because with the VAAST and Phevor disease-gene discovery algorithms, the interpretation is based on statistics rather than a heuristic.”

In a 2014 study, a group of Stanford investigators concluded that the clinical viability of whole genome sequencing was hampered by the time and costs associated with manually interpreting a whole genome. Omicia CEO and co-founder John Stuelpnagel stated, “As recently as one year ago it’d been estimated that making clinical sense of a human genome would take 100 hours if done manually. Omicia’s Opal platform has enabled labs to automate the interpretation of a whole genome and find the right answer in as little as 20 minutes. As whole genome sequencing becomes incorporated into the UK healthcare system, not only does Omicia help find the exact cause of complex genetic disorders, we help demonstrate the clinical utility and financially viability of genomic testing for routine clinical testing.”