Partners to Develop DNBSEQTM Technology-Based Clinical Whole Genome Sequencing Solution for Diagnosis of Genetic Diseases
HOUSTON and CAMBRIDGE, Mass. (April 3, 2019) – AiLife Diagnostics Inc, a clinical molecular diagnostic and bioinformatics company, and BGI Americas, a leading global genomic services company, announced today that they have entered into an agreement to jointly develop and market a clinical whole genome sequencing (WGS) solution for diagnosis of genetic disorders. This test leverages BGI’s DNBSEQ™ next generation sequencing (NGS) technology and AiLife’s established A-GPSTM, I-GPSTM and D-GPSTM pipelines for clinical NGS data analysis, interpretation and reporting.
Genetic disorders are leading causes of childhood mortality. Current genetic diagnostic tests typically include gene panels, whole exome sequencing and chromosomal microarray analysis, each only interrogating part of the genome. By investigating the full genome in a single test, WGS can detect known and potential disease-causing single nucleotide variants (SNVs), insertions or deletions (indels), as well as copy number variants (CNVs) and structural variations (SVs) in both coding and noncoding regions. WGS-based clinical diagnostic testing has been demonstrated to harness the potential to permit comprehensive and timely ascertainment of genetic diseases, eliminating iterative inquiry of differential diagnoses.
The joint WGS testing solution will feature BGI’s proprietary DNBSEQTM technology, which has already been widely- and well-recognized by the research community. BGI started offering the $600 research-grade WGS service in 2018, enabling holistic assessment of genetic profiles at a cost level similar to whole exome sequencing (WES) and targeted sequencing. So far, over 100,000 WGS samples have been sequenced globally using DNBSEQTM technology. Compared to conventional sequencing technology, BGI delivers better Indel calling accuracy, better GC coverage, a higher mapping rate and lower duplication rate. More importantly, the cost advantage of DNBSEQTM technology will undoubtedly enable future adoption of clinical WGS testing, which historically has not been widely accessible to patients and clinical providers due to the cost hurdle.
High-quality data analysis, interpretation and clinical reporting will be provided by AiLife. The bioinformatics pipeline at AiLife enables the detection of SNVs, Indels, CNVs and SVs as well as uniparental disomy (UPD) and absence of heterozygosity (AOH) detections. The clinical report will be generated and signed by AiLife’s highly qualified genomic scientists and board-certified clinical geneticists.
Currently, AiLife and BGI are conducting a validation study at their respective CAP-accredited CLIA-certified laboratories, which are well-established for clinical grade sequencing and interpretation. The parties expect to finish the validation by June and officially launch the test in October at this year’s ASHG conference in Houston. The new service will be available in the Americas as a turn-key solution from both companies. By providing early diagnosis and higher detection rates, this powerful test will benefit not only patients with genetic diseases and hereditary cancers, but also clinicians seeking to improve outcomes of rare or undiagnosed diseases through implementation of precision medicine. In addition, the privacy and security of patient health information is a top priority along with timely and high-quality results delivery.
According to Dr. Charles Bao, General Manager of BGI Americas Corp. the US subsidiary of BGI Genomics, “BGI has a profound track record of genetic testing esp. in the Chinese market.” He adds: “This alliance signifies a major step forward for our global expansion in clinical testing. The joint offering broadens the utilization of our DNBSEQTM platforms. Partnership with AiLife aligns with BGI’s vision to bring WGS into routine clinical practice and to institute a new era of precision medicine for clinical genetic diagnostics.”
Dr. Yaping Yang, CEO and founder of AiLife Diagnostics and visiting professor at Baylor College of Medicine, added, “This collaboration combines BGI’s expertise in high-throughput sequencing technologies and platforms and AiLife’s expertise in clinical interpretation and research analysis of NGS data. We are very excited to have the opportunity to serve the community and help move genomic medicine forward.”
About BGI Americas
BGI Americas is a subsidiary of BGI Genomics, which is a publicly traded entity listed on the Shenzhen Stock Exchange in China and provides comprehensive sequencing and bioinformatics services for basic and translational research as well as pharmaceutical drug development in North, Central and South America. The company helps customers achieve their research goals by delivering rapid, high-quality results using a broad array of cost-effective, cutting-edge technologies, including BGI’s innovative DNBSEQ™ sequencing technology.
BGI customers also benefit from the company’s vast scientific expertise and massive sequencing capacity in state-of-the-art service laboratories, including a CAP/CLIA laboratory in Hong Kong. For more information, visit https://www.bgi.com/us/
About AiLife Diagnostics
AiLife Diagnostics, Inc. was founded by experts with many years of experience in genomic medicine. The company now includes a group of experts in genome medicine, bioinformatics, quality management, customer services and finance. AiLife has developed NGS analysis tools including 1) Annotation of Genes and Proteins Systematically (A-GPSTM), 2) Interpretation of Genes and Proteins Systematically (I-GPSTM), 3) Discovery of Genes with Possible disease contributions Systematically (D-GPSTM). These tools can greatly facilitate the analysis, interpretation and research mining of NGS data. The mission of the company is to empower the medical community by providing comprehensive genetic data analyses and interpretations through innovation, research, and education. More information is available at www.ailifeus.com
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