Personalis has won approvals from the New York State Department of Health for two next-generation sequencing clinical tests based on the Personalis ACE Exome for Inherited Disorders.
The approvals cover two of Personalis’ tests based on its proprietary accuracy and content enhanced (ACE) technology, the ACE Clinical Exome Test and Neurome Test. Both can now be offered to physicians and patients across New York state.
The ACE Clinical Exome Test is a next–generation sequencing (NGS)-based test designed to provide a molecular genetic diagnosis for patients whose clinical assessment indicates a likely genetic basis to their disorder but that genetic etiology is unknown. The test covers all ~20,000 RefSeq genes and augments coverage of more than 8,000 biomedically relevant genes, of which more than 6,000 are finished, covering more than 99% of all exonic bases at an average depth of ≥ 20x.
Personalis says ACE Exome offers substantially more uniform sequencing coverage than other commercially available exomes.
The Neurome Test, developed and implemented by Personalis for Athena Diagnostics, is designed to pinpoint the genetic basis of neurological disorders that include developmental delay (autism, intellectual disability, global developmental delay), hearing loss, early-onset dementia, hereditary spastic paraplegias, familial ALS, leukodystrophies, epilepsy, and muscular dystrophies and myopathies.
According to Personalis, the Neurome Test is the first whole exome assay (>20,000 genes sequenced) with analysis focused on neurological disease. Athena, which was acquired in 2011 by Quest Diagnostics, joined with Personalis to launch the Neurome Test in 2015.
Personalis was granted its New York state permit in the category of Genetic Testing, Molecular. The New York state approval adds to earlier certifications of Personalis Clinical Laboratory (PCL), which won CLIA’88 and State of California licensure in 2013, followed a year later by College of American Pathologists (CAP) accreditation.
"This achievement represents an important milestone our regulatory strategy," Personalis CEO John West said yesterday in a statement. “We look forward to continuing to work with New York State for the evaluation and approval of other tests based on Personalis’ ACE technology.”