smartphone app

(Illustration created with image from Pixabay)

Helix has announced two new application development deals with PerkinElmer and Northshore University Health System, in an attempt to ease access to genetic disease risk information. 

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 Genomics (ACMG) has identified as being linked to serious diseases, but for which there are established risk-reducing interventions. 


Consumer Genetics Will Be the Next Home Pregnancy Test, Says 23andMe CEO


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. 

Northshore, on the other hand, 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 are working to validate and demonstrate the utility of the risk score for other conditions. 

The apps being developed draw on customers’ exome sequencing data generated within its CLIA-certified and CAP-accredited next-generation sequencing lab. To use the app, customers will be required to pay a one-time $80 fee for the baseline exome analysis then pay for each app separately. Both companies have confirmed that this data will allow them to launch new apps in the future. 

The apps are still under development, so the details on how the genetic test results will be communicated to the customers are yet to be confirmed. To order health-related apps on the Helix marketplace, customers must fill out a questionnaire to determine if testing is appropriate for them. Both of these are then sent to physicians in a third party network, who are familiar with the product, for review and approval. 

Once approved, the analysis is performed and results are reported to customers directly via the partner’s app or website. It is then that customers are free to discuss the results with the partner organisation, their doctor, or a genetic counsellor. 

For health-related apps, genetic counselling is provided for free to those who want it. PerkinElmer and NorthShore are also exploring additional tools for educating consumers, for example, videos and counselling bots. 

More on these topics