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Public-Private Effort Leverages WGS to Speed Diagnosis of Rare Genetic Developmental Disorders

NEW YORK – The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain) announced on Wednesday the launch of a proof-of-concept study to improve the diagnosis of rare genetic developmental disorders through whole-genome sequencing.

The study is a public-private collaboration among COMBINEDBrain, Children's National, Kennedy Krieger Institute, University of Texas Southwestern, Boston Children's Hospital, the National Brain Gene Registry, Broad Clinical Labs, Fabric Genomics, and Guide Genetics.

Project Fast Infant Neurodevelopmental Diagnosis via Outpatient Testing (FIND-OUT) will provide WGS to infants between the ages of 3 to 12 months who have early symptoms of rare neurodevelopmental disorders, as well as genetic counseling and specialist referral to their families. The study's goals are to speed diagnosis of these rare disorders, generate evidence on the benefits of genetic testing for patients and their families, and build capacity at a local level for implementing genetic testing programs.

Long diagnostic journeys are a hallmark of rare disorders, lasting an average of 30 months from the time a parent identifies a concern. Such delayed diagnoses are costly to both families and healthcare systems, and risk missing important early therapeutic windows.

"Early diagnosis not only creates opportunities for improved care at the individual level, but will help us understand how these rare conditions present very early on which is critical for the development of innovative patient-centered approaches to treatment," Natasha Ludwig, director of the Developmental Neuropsychology Phenotyping Unit at Kennedy Krieger Institute, said in a statement.

Project FIND-OUT seeks to initially recruit 50 infants for the study, followed by a total planned enrollment of 1,000 infants. It is funded by COMBINEDBrain, private donations, and industry contributions, although the amount of funding was not disclosed.

Broad Clinical Labs and Fabric Genomics are providing WGS services through a collaboration that leverages Fabric's Gem artificial intelligence platform, while Guide Genetics will provide virtual genetic counseling services.

All pathogenic diagnoses will be reported back to families and their healthcare providers where they may directly impact care.

"The results from this study will help us understand the impact of genetic testing on families and increase access to genetic testing in the United States," said Elizabeth Rountree, diagnostics lead at COMBINEDBrain.

Last year, COMBINEDBrain partnered with Genomenon and nonprofit patient advocacy organizations the SynGAP Research Fund and SLC-6A1 Connect to speed up the development of precision drugs for rare neurodevelopmental diseases.