Diagnosing Rare Diseases Early in Massachusetts

Whole Genome Sequencing Doubles Diagnosis Rates for Genetic Disorders in Newborns

A Comparative Analysis of Rapid Whole Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder: The Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

Visit the Journal of Clinical and Translational Science to learn how Dr. Jonathan Davis got involved in clinical research and how he navigated this award-winning research.

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants. The study, was first published online on The Journal of the American Medical Association (JAMA) website on July 11, 2023.

Funded by the National Institutes of Health, the first-of-its-kind GEMINI Study enrolled 400 newborns and infants under the age of one year, with a wide variety of suspected, undiagnosed genetic disorders, at six centers across the United States. Each newbon/infant received both WGS, which can identify variants in all 20,000 genes in the human body, and NewbornDx, a targeted gene sequencing test which can identify variants in 1,722 genes known to be linked to genetic disorders in newborns/infants. The researchers found that WGS detected a genetic disorder in 49 percent of patients, while the targeted gene sequencing test identified a genetic disorder in 27 percent of study participants. The targeted panel missed 40 percent of diagnoses that WGS captured. In addition, the researchers also found 134 new genetic diagnoses that had never been described. Overall, 51 percent of patients in the study were diagnosed with a genetic disorder with either test.

“More than half of the babies in our study had a genetic disorder that would have remained undetected at most hospitals across the country if not for genome sequencing technologies,” said Jonathan Davis, MD, Chief of Newborn Medicine at Tufts Medical Center and Co-Principal Investigator of the study. “Successfully diagnosing an infant’s genetic disorder as early as possible helps ensure they receive the best medical care. This study shows that WGS, while still imperfect, remains the gold standard for accurate diagnosis of genetic disorders in newborns and infants.”

This study was recognized by the Clinical Research Forum with a 2024 Top 10-Clinical Research Achievement Award.