PerkinElmer, Helix GenePrism:Actionable Insights
PerkinElmer and Helix have launched GenePrism:Actionable Insights, a genetic screening test that they said is the "most comprehensive clinical grade DNA sequencing and interpretation" test currently on the market. The test allows users to learn about their risk for underlying diseases. A user's DNA will be sequenced by Helix and the results will be interpreted by board-certified geneticists at PerkinElmer Genomics using ordered data interpretation network, that firm's proprietary high-throughput software platform. In comparison to other commercial firms that look at a limited number of letters in a gene sequence, GenePrism:Actionable Insights assesses each of 59 genes in its entirety, including BRCA1/2, the partners said. They also noted that PerkinElmer Genomics maintains one of the largest databases of known genetic variations from different ancestries globally providing customers with a more in-depth assessment.
BGI Oseq Hereditary Cancer Panel
BGI Americas has launched the Oseq Hereditary Cancer Panel (HGP), an assay that is designed to identify known and emerging tumor biomarkers for 17 cancer types and to support clinical trials of anti-cancer drugs. The panel, which runs on the MGISEQ-2000, Illumina HiSeq 2500, and Illumina HiSeq 4000 systems, looks for germline variants in the exons of up to 115 target genes. It covers mutations in the BRCA 1/2 genes that are contained in the proprietary BGI Hereditary Cancer Genetic Database v1.0, which integrates results from more than 30,000 clinical tests. The assay has been clinically validated in BGI's CAP-accredited and CLIA-certified Hong Kong laboratory and is currently being reviewed for accelerated IVD approval by the China National Medical Products Administration.
Fabric Genomics Hereditary Panels With ACE
Fabric Genomics has launched Fabric Hereditary Panels with ACE (AI Classification Engine) software for variant interpretation and clinical reporting. ACE is an artificial intelligence inference engine that leverages deep gene and variant annotation, resulting in highly accurate American College of Medical Genetics variant classification. The software is embedded within the Fabric Enterprise platform for genomic analysis and reporting that delivers a complete sequence-to-clinical report workflow. ACE enhances the Fabric Enterprise platform, making ACMG classification even faster and easier, the company said. The new software is now available for many common genetic tests such as inherited cancer risk including BRCA1 and BRCA2, newborn screening, and CDC-Tier 1 and ACMG incidental findings testing.
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