Author Interviews, Genetic Research, JAMA, Pediatrics / 17.07.2023
TUFTS GEMINI Study Finds Whole Genomic Sequencing Identifies More Pathogenic Genes than Targeted Panels
MedicalResearch.com Interview with:
Prof. Jonathan Davis, MD,
Chief of Newborn Medicine
Tufts Medical Center and
Jill Maron, MD, MPH
Chief of Pediatrics
Women & Infants Hospital of Rhode Island
MedicalResearch.com: What is the background for this study?
Response: The Genomic Medicine for Ill Neonates and Infants (GEMINI) trial was designed to be the first comparative study to explore the diagnostic yield, clinical utility and time to diagnosis between whole genomic sequencing (WGS) and a targeted genomic sequencing panel specifically designed to detect gene disorders that present in early life. GEMINI was a US based study that enrolled 400 hospitalized infants, along with their available parents, suspected of having an undiagnosed genetic diagnosis. Every participant underwent testing on each platform simultaneously, allowing us to better understand the limitations and advantages of each approach.
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