Personalis, Inc., the leading provider of advanced medical exome and genome sequencing and interpretation services today announced the launch of an early access program to the Personalis ACE Clinical Exome™, a single test that integrates enhanced exome sequencing with genome-wide structural variant detection to increase diagnostic yield. "Personalis' goal is to improve diagnostic yield while decreasing overall cost and turnaround time compared with traditional serial genetic testing. Until now separate testing has been required for exome-wide small variant detection and genome-wide structural variant detection" said Personalis' CEO John West "Our ACE Clinical Exome replaces this serial genetic testing approach with a single, convenient test".
"We are thrilled to launch early access to our ACE Clinical Exome service for diagnosing individuals with suspected genetic syndromes. We have had successful pilots with UCLA, UCSF, and other customers for our exome service. Our ACE exome sequencing fills gaps in coverage present in standard exomes for over 7,000 medically important genes so that our customers have confidence in gene coverage and accuracy. During our early access program, we will provide 8 to 12 week turnaround for clinical reports. Our full service will launch in Q1 of 2014" said Dr. Richard Chen, Chief Scientific Officer at Personalis.
Dr. Samuel Strom, Assistant Professor UCLA Department of Pathology and Laboratory Medicine, who collaborated with Personalis on the Pilot Program, said, "With molecular improvements to exome sequencing and a sharp clinical and bioinformatics team, Personalis provided rapid turnaround and very high diagnostic yield on our cases. I look forward to working with them again." Dr. Strom will be presenting his findings from the collaboration at the American Society of Human Genetics (ASHG) in Boston on Thursday, October 24th. For further details please visit www.personalis.com/ashg.
The ACE Clinical Exome™ leverages the latest advances in Personalis' ACE (Accuracy and Content Enhanced) platform technology. The ACE platform combines: ACE Sequencing for improved accuracy and coverage over standard clinical exome offerings; the advanced ACE Pipeline for best-in-class alignment and variant calling, incorporating an enhanced reference sequence for improved accuracy; and ACE Annotation, with content from proprietary disease variant and pharmacogenomics databases integrated with over 40 additional public and commercial databases, to provide superior gene-phenotype associations and increased diagnostic yield. Each prioritized variant is examined in detail by Personalis' clinical team of physicians, genetic counselors, and bioinformaticians. Results are presented in an intuitive and actionable report, created by clinicians for clinicians, so that providers can rapidly understand and assess the findings. The company is currently receiving projects from clinicians as part of an early access program.
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