COMBINEDBrain Launches WGS Study for Children With Neurodevelopmental Disorders; Broad Institute Will Perform Sequencing Using Fabric Genomics Interpretation Software
11-9-23 (by: Scott Gleason) COMBINEDBrain, a non-profit organization dedicated to expediting cures for neurodevelopmental disorders, has unveiled Project FIND-OUT (Fast Infant Neurodevelopmental Diagnosis via Outpatient Testing), a collaborative effort involving non-profit entities, academic institutions, and industry organizations.
Project FIND-OUT aims to provide whole genome sequencing (WGS) to infants displaying early symptoms of rare genetic neurodevelopmental disorders. The study’s objectives include hastening the diagnosis of these disorders, generating evidence on the benefits of genetic testing for patients and their families, and building local capacity for implementing genetic testing programs. Rare genetic neurodevelopmental disorders (RGND) often manifest symptoms in early childhood, leading to underdiagnosis. The average time to obtain a diagnosis, for those who eventually do, is around 30 months from the identification of parental concerns. Project FIND-OUT seeks to mitigate the challenges faced by families and the healthcare system due to this prolonged diagnostic journey.
The study is unique in its virtual provision of services to families, eliminating the need for physical travel to receive cutting-edge diagnostic testing. All pathogenic diagnoses will be reported back to families and healthcare providers to directly impact patient care. The study is open to infants aged 3–12 months in the USA, displaying two or more symptoms, including feeding issues, movement problems, NICU admission, developmental delays, other congenital malformations, atypical growth, specialist referrals, unprovoked seizures, or tone issues.
Broad Clinical Labs, LLC, a subsidiary of the Broad Institute of MIT and Harvard, has been chosen to provide clinical WGS and interpretation services. Project FIND-OUT offers free whole genome sequencing, genetic counseling, and specialist referrals for symptomatic infants meeting straightforward inclusion criteria. Broad Clinical Labs offers its WGS service for $1,000 and will use Fabric Genomics data interpretation software.
Dr. Seth Berger, a pediatric geneticist at Children’s National Hospital, emphasizes the potential transformative impact of broad genetic testing at the first signs of symptoms, stating that it promises to revolutionize the diagnosis and management of children with neurodevelopmental disorders.