PerkinElmer announced a collaboration with Helix to develop and commercialize exome sequencing-based tests that will empower consumers to make proactive health management decisions. Tests developed as part of this collaboration will be available to customers of Helix’s online marketplace for DNA-powered products.
The initial targeted product offering will return results for 59 genes that the American College of Medical Genetics and Genomics (ACMG) identifies as highly penetrant genetic conditions with established interventions aimed at significantly reducing morbidity and mortality. All DNA sequencing data for these products will be generated utilizing Helix’s proprietary Exome+ assay in its CLIA- and CAP-certified next-generation sequencing laboratory.
PerkinElmer Genomics’ medical genetics team, under the direction of Dr. Madhuri Hegde, vice president and chief scientific officer for laboratory services of PerkinElmer’s Diagnostics business group, will provide data analysis and interpretative services to individuals who purchase the product.
“We are very excited to collaborate with Helix to bring affordable and high-quality genomic services to healthy individuals. PerkinElmer Genomics has built a proprietary reporting pipeline called Ordered Data Interpretation Network which will help make data analysis and interpretation much more efficient than standard methods,” said Dr. Hegde. “The Helix platform, powered by their Exome+ assay, provides panel-grade quality in critical regions like the ACMG 59 as well as unparalleled flexibility for us to expand into additional products in the future. We strongly believe that, when presented and used appropriately, genomic information can help people and their physicians proactively inform important health management decisions.”
All product offerings will be available through Helix’s online store and will require clinician approval. Expanded offerings involving additional genes and whole exome analysis are also planned for development in the future.