LONDON: Omicia, the leading clinical genomics company, announced that it has been selected by Genomics England to provide clinical interpretation services for the 100,000 Genomes Project. For the first phase of the project Illumina will provide sequencing services, while Omicia will provide interpretation and clinical reports.
Genomics England leads the UK’s national initiative to integrate genomics-based precision medicine into routine healthcare. Recognizing the significant challenge of generating clinically relevant information from massive amounts of genomic data, Genomics England launched a rigorous evaluation process to select the companies most capable of identifying the genetic cause of rare disease and cancer in patient samples. Omicia was selected out of 28 companies competing in the interpretation assessment and is now one of four companies that will provide annotation, interpretation, and reporting services. The first phase of the 100,000 Genomes Project will include 8,000 patients, growing to 100,000 by 2017.
Omicia is proud to partner with the pioneering Genomics England project and we look forward to working closely with the members of the Genomics England Clinical Interpretation Partnership,” said Martin Reese, Ph.D., CSO and Founder of Omicia. “Clinicians and researchers recognize that interpreting genome sequencing data is the biggest challenge to bringing genomics to routine clinical testing, therapy selection, and clinical trials. Omicia is delighted to contribute our expertise in genome interpretation, combining the Opal platform with Illumina’s next-generation sequencing services to benefit patients in the UK’s National Health System (NHS).”
Augusto Rendon, Ph.D., Director of Bioinformatics at Genomics England, commented, “This is an important milestone for the project. We are looking to provide high quality variant interpretation to assist clinicians within the NHS and these companies will enable us to deliver this service. We look forward to working with each of the successful companies over the next year.”
Genomics England estimates that one in 17 people are born with, or will develop, a rare disease during their lifetime. More than 80 percent of those rare diseases have an identified genetic component. Genomics England recently announced the first patients to be diagnosed with genetic disease as part of the 100,000 Genomes Project: individuals with kidney disease and peripheral neuropathy. With these diagnoses patients can receive more personalized care. Omicia is an innovator in genomic disease diagnostics; the company’s VAAST algorithm was used in the variant interpretation and discovery of the gene for Ogden Syndrome, one of thefirst disease genes identified using next-generation sequencing (NGS).
