BGI Genomics has today announced that it has launched a clinical research whole exome sequencing solution coupled with industry-leading clinical interpretation services from Congenica. Marketed as ‘BGI-Xome’, sequencing will be conducted at BGI Genomics’ service laboratories while interpretation will be completed by certified clinical scientists using the Congenica™ clinical decision support platform, trusted by Genomics England and the NHS Genomic Medicine Service.

The Congenica interpretation platform leverages proprietary datasets, knowledgebase and deep clinical expertise to enable the BGI Whole Exome service to provide a gold-standard and cost-effective solution which eliminates the risk of disease associated mutations being missed or misreported.

“By combining BGI Genomics’ exome sequencing cost and quality advantages with Congenica’s world-leading interpretation platform and clinical expertise, we will be able to offer partners across the world access to a trusted, premium clinical research whole exome service that supports diagnostic confidence, at extremely accessible pricing”, commented Ning Li, Vice President of BGI Group.

Dr David Shan, BGI Genomics’ Head of Global Sales for Clinical Genetics, added:
“Researchers and physicians will be able to use this new clinical research exome sequencing service to increase diagnostic yield, make more targeted healthcare interventions and to improve patient outcomes”.

Dr Paul Denny-Gouldson, Congenica’s Chief Commercial Officer, commented:
“The Congenica clinical decision support platform is internationally recognized as a best-in-class solution for genomic data interpretation, trusted globally by physicians and scientists in institutes such as the New York Genome Center and the NHS Genomic Medicine Service. We are delighted to extend patient access to rapid, reliable and actionable exome interpretation with BGI Genomics”.