First Personal Genomics Product Will Focus on 59 Genes Identified by the American College of Medical Genetics and Genomics (ACMG) as Highly Penetrant

PerkinElmer, Inc. (NYSE: PKI), a global leader committed to innovating for a healthier world,has announced  a collaboration with Helix, a personal genomics company, 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 expanding 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 mortality1.  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. Unlike other personal genomics companies that require a separate DNA sample for each product they provide, Helix collects and sequences a DNA sample once, and then securely stores and protects a customer’s exome data so they can access additional DNA-powered products and services from the Helix store without providing another saliva sample.

“Together with PerkinElmer, we will launch the first product that contains all actionable genes identified by the ACMG guidelines, offering consumers unprecedented access to insights about their own health,” said Justin Kao, Helix co-founder and senior vice president. “Our Exome+ assay can deliver major impact through products that interpret clinically relevant genes such as the 59 identified by the ACMG guidelines.  We are proud to be working with Dr. Hegde and her team at PerkinElmer Genomics to bring to market novel products that have the potential to support actionable health decisions for millions of people.”

The products offered by PerkinElmer Genomics through the Helix store are designed for healthy individuals who do not have known risk factors for inherited disease. These products are not designed for individuals with a significant family history of disease, or with a previously diagnosed genetic condition, where a comprehensive evaluation and diagnostic test might be more appropriate. All orders made through the Helix store will be reviewed by a clinician to ensure that the test is medically appropriate before the order is completed.  Upon request, genetic counseling will be available free of charge to people  using PerkinElmer Genomics products on the Helix platform.

PerkinElmer Genomics has two state-of-the-art CLIA and CAP-certified clinical laboratories based in Pittsburgh, PA and Branford, CT that process more than 500,000 samples a year. Its testing menus include newborn screening, biochemical profiling, 2nd tier molecular confirmatory testing, Sanger and NGS-based panels, and clinical exome and genome sequencing services.  Through its integrated laboratories in the U.S., India and China, PerkinElmer offers a global genomic lab testing platform that performs screening and diagnostic testing, specializing in newborn screening and high throughput next generation sequencing for rare inherited diseases.

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