Genomic testing is beginning to explode in the consumer marketplace. The phenomenon started with DNA analysis for those interested in their family lineage and is now proceeding to diagnostics such as the determination of selected variants of BRCA1/BRCA 2. This is only one of the analytes included in the genetic risk report of 23andMe (see: Do You Speak BRCA). Now comes the news that PerkinElmer, a well established IVD company, is collaborating with Helix to offer personal genomic testing to consumers (see: PerkinElmer Collaborates With Helix To Drive Innovation In Exome-Based Personal Genomics). Below is an excerpt from the article announcing this news:
PerkinElmer has 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 expanding online marketplace for DNA-powered products, which were utilized in Helix’s collaboration with Illumina Accelerator last fall. 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 Madhuri Hegde,....will provide data analysis and interpretative services to individuals who purchase the product. ....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....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....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.
This is all extremely interesting. One point to emphasize is that the analysis and interpretation of DNA data is being managed by PerkinElmer rather than Helix using what is described as their "proprietary reporting pipeline." I can't find any details about this but will be on the hunt for more information. Also very interesting is the notion that Helix collects and sequences a saliva sample only once. This means that this effort is focused on both DNA testing and subsequent data analysis. In other words, the companies will provide future reports based on new science as it evolves. The consumer thus has a continuing relationship with the companies and will presumably be able to order future reports.