PerkinElmer Inc, Waltham, Mass, has announced a collaboration with Helix, San Carlos, Calif, to develop and commercialize exome sequencing-based tests intended to enable consumers to make proactive health management decisions. Tests developed as part of the collaboration will be available to customers of Helix’s expanding online marketplace for DNA-powered products.

The initial 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.1All DNA sequencing data for the products will be generated in Helix’s next-generation sequencing laboratory using the company’s proprietary Exome+ assay. The Helix laboratory is certified by the College of American Pathologists under the terms of the Clinical Laboratory Improvements Amendments of 1988.

The medical genetics team of PerkinElmer Genomics, under the direction of Madhuri Hegde, PhD, vice president and chief scientific officer for laboratory services in PerkinElmer’s diagnostics business group, will provide data analysis and interpretative services to individuals who purchase the product.

Madhuri Hegde, PhD, PerkinElmer.

Madhuri Hegde, PhD, PerkinElmer.

“We are very excited to collaborate with Helix to bring affordable and high-quality genomic services to healthy individuals,” says Hegde. “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. 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. Helix collects and sequences a DNA sample once, and then securely stores and protects customers’ exome data so they can access additional DNA-powered products and services from the Helix store without providing another saliva sample.

Justin Kao, Helix.

Justin Kao, Helix.

“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,” says Justin Kao, Helix cofounder 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.

For more information, visit PerkinElmer.


  1. Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(2):249–255; doi: 10.1038/gim.2016.190.