During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.
The new grant will be used to conduct whole-exome sequencing on 1,000 children participating in an autism spectrum disorder study for the purposes of biomarker development.
The test relies on a signature that Almac developed for stratifying breast cancer patients, but which, as the researchers showed, can be used in other cancers as well.
The company's new strategic direction recognizes that the incorporation of genomics into patients' lives requires engaging other players in the complex healthcare ecosystem.
The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.
The genetic disease risk test, which covers 59 genes endorsed by ACMG, is offered through the Helix marketplace and includes genetic counseling services.
Patients within the project and their physicians will be able to access Genome Medical's genetic specialists to address concerns and incorporate genetic information into care.
Lineagen hopes to use PWNHealth's consumer-oriented model to expand access to its testing services for developmental delay and autism spectrum disorder.
Under a collaboration with GeneDx, Boston Children's has rapidly sequenced the exomes of 20 NICU babies and have arrived at a likely diagnosis in around 85 percent.
The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.