Irish rare disease research center FutureNeuro is partnering with software vendor Congenica to bring sequencing to the point of care for genetic epilepsies.
The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.
The company is developing an epilepsy test based on inflammatory proteins in patient blood that is intended for ruling out patients with seizure-like symptoms.
A pair of new studies evaluated whole-exome sequencing and other genetic tests in children with epilepsy and in other undiagnosed monogenic disease cases.
A pilot program will allow 100 individuals and families with a rare form of epilepsy to receive exome sequencing as part of a larger epilepsy genetics database effort.
Lawmakers have asked four direct-to-consumer genetic testing companies to explain their privacy policies and security measures, according to Stat News.
