MENLO PARK, Calif.--(BUSINESS WIRE)--Personalis, Inc., a leading genomics-based clinical diagnostic laboratory, today announced the launch of its newly enhanced ACE Clinical Exome™ Test for inherited genetic disease. The new test incorporates advances in the company’s assay design, an extensive variant-review process, and the involvement of the company’s world-class clinical team.
The ACE Clinical Exome Test is based on a full exome, targeting essentially all human genes. Of these, Personalis augments the coverage of more than 8,000 medically associated genes, beginning with 4,600 genes identified by the International Collaboration for Clinical Genomics as being related to Mendelian Disease. Personalis then adds genes that have been more recently associated with Mendelian conditions, as well as genes determined likely to have as-yet undiscovered Mendelian associations. The medically associated gene set includes more than 1,200 genes linked to cancer, and hundreds identified as relevant to pharmacogenomics by PharmGKBTM, the leading pharmacogenomics database. Greater than 6,000 of the augmented genes in the ACE Clinical Exome Test are finished by Personalis (>99% of exonic bases at ≥20X coverage), more than any other commercial test.
While early exomes for research discovery were designed to capture just the coding sequences of genes, it has long been recognized that medically reportable content extends beyond the coding regions. Personalis has extended the concept of a “clinical exome” to capture those disease-associated non-coding regions. The ACE Clinical Exome Test provides coverage for a large number of medically reportable variants in untranslated regions (UTRs), introns and promoter regions.
Further, with a rise in the use of next-generation sequencing in the clinical setting, it is becoming increasingly appreciated that mosaic variants play key roles in disease. Personalis' sequencing depth and coverage uniformity increases sensitivity for mosaic variants, allowing mosaic detection in probands, as well as germ-line mosaicism detection in the parents for more accurate recurrence risk prediction. Finally, the ACE Clinical Exome Test includes a separate, NGS-based assay to detect structural variants genome-wide.
John West, President and CEO of Personalis commented: “Since introducing our ACE technology for augmenting the performance of exome sequencing in February 2013, we have used the technology to sequence thousands of samples and cases, giving us the experience and data needed to release this third generation test with even higher performance.”
Bringing Together World-Class Genomics and Clinical Expertise
Personalis has brought together a world-class team of physician scientists with both genomics and clinical expertise, including experts from Stanford University and the University of California, San Francisco (UCSF), to join a leading-edge team of physicians, PhD scientists, genetic counselors, and bioinformaticians at Personalis. This group of experts participates in both the design and development of the ACE Clinical Exome Test, as well as the interpretation of submitted cases. The newly formed physician scientist consulting team brings together broad medical genetics expertise with specialists in neurology, cardiology, hereditary cancer, immunology, and dysmorphology. In the last year, the Personalis clinical team has approximately tripled in size, as the company’s clinical business has expanded.
The Personalis interpretation process extensively leverages the prior clinical history of the patient, and uses a double-blind variant screening process to improve quality and increase sensitivity to detect causal variation.
“By bringing clinical grade assays together with a comprehensive informatics and clinical review process, Personalis can interpret more complex genetic scenarios,” added West. “These include cases of mosaicism (in the parents or proband), uniparental disomy, consanguinity, clinically reportable structural variants and cases with dual diagnoses.”
Personalis at ASHG 2014
Attendees at the American Society of Human Genetics Annual Meeting in San Diego can learn more about the Personalis ACE Clinical Exome Test at booth #639 or by attending the company’s workshop this Sunday and other presentations at the meeting. For more information or to register for the workshop visit: http://www.personalis.com/news-and-events/events.php.
About Personalis, Inc.
Personalis, Inc. provides researchers and clinicians advanced genome-scale sequencing and interpretation services for inherited genetic disease and cancer. The company’s clinical laboratory is CLIA licensed and CAP accredited. For more information please visit www.personalis.com.