NEW YORK (GenomeWeb) – Personal genomics firm Helix today announced two new application development deals with PerkinElmer and NorthShore University Health System.
PerkinElmer will develop and launch the first app in the coming months on Helix's online genomics marketplace to report pathogenic and likely pathogenic variants in 59 genes that the American College of Medical Genetics and Genomics (ACMG) has identified as being linked to serious diseases, but for which there are established risk-reducing interventions. The app is not meant for individuals with known risk factors of an inherited disease, including a family history of an illness, or those with a diagnosed genetic condition who'd benefit from more comprehensive evaluation.
PerkinElmer will employ its proprietary variant evaluation pipeline, the Ordered Data Interpretation Network. Madhuri Hegde, chief scientific officer for lab services within PerkinElmer's diagnostics business group, will lead a medical genetics team to interpret and report detected variants for customers who order the app.
NorthShore meanwhile plans to apply the genetic risk score developed by Jianfeng Xu, NorthShore's VP of translational research, to initially report a polygenic prostate cancer risk score through Helix's online marketplace by year end. Researchers at NorthShore are working to validate and demonstrate the utility of the risk score for other conditions.
The apps developed by Helix's partners draw on customers' exome sequencing data generated within its CLIA-certified and CAP-accredited next-generation sequencing lab. Customers pay a one-time $80 fee for the baseline exome analysis then pay for each app separately. Both PerkinElmer and NorthShore noted that Helix's exome sequencing data will enable it to launch new apps in the future.
These apps are currently under development, so the details of how the genetic test results will be communicated to the customers are not solidified. In general, to order health-related apps on the Helix marketplace, customers must fill out a questionnaire to determine if testing is appropriate for them. The test order and questionnaire are then sent to physicians in a third party network, who are familiar with the product, for review and approval.
If approved, the analysis is performed and results are reported to customers directly via the partner's app or website. Customers are then free to discuss the results with the partner organization, their own doctor, or a genetic counselor.
For health-related Helix apps, genetic counseling is provided for free to those who want it. PerkinElmer and NorthShore are also exploring additional tools for educating consumers, such as videos and counseling bots.