GeneDx has unveiled new findings from the GUARDIAN study, a large research effort to assess the effectiveness of whole genome sequencing (WGS) in newborn screening.
Published in JAMA, the study enrolled 4,000 newborns and found that 3.7% had positive screenings, with most cases undetectable by current standard screening methods. Of the 120 newborns with confirmed genetic conditions, 92% had disorders not included in traditional screening panels such as Long QT syndrome, severe combined immunodeficiencies, and Wilson disease – all of which have existing treatments.
The US already has a national screening programme that tests nearly all newborns for serious genetic, metabolic, and hormonal conditions using a small blood sample. While each state manages its own programme, most follow the federal Recommended Uniform Screening Panel (RUSP), which suggests screening for 60 conditions.
However, the genomic approach used in the GUARDIAN study screens for 255 early-onset genetic conditions, compared to the 60 conditions covered in standard newborn screening. Out of these 255 conditions, 156 have established treatments, meaning newborns could receive intervention earlier.
Supported by Columbia University, NewYork-Presbyterian, the New York State Department of Health and Illumina, the study has now enrolled over 13,000 newborns and expanded its panel to cover 446 genes associated with more than 460 conditions.
Similar studies have been launched across the pond. Earlier this month, the UK’s National Health Service (NHS) kick-started a study, which will screen up to 100,000 newborn babies for over 200 rare diseases. The Generation Study – led by Genomics England in collaboration with NHS England – will offer whole genome sequencing to newborns using blood samples typically collected from their umbilical cord shortly after birth.
Founded in 2000, GeneDx’s technology analyses a patient’s DNA to identify genetic variations linked to health conditions. Through whole genome sequencing, the DNA is processed and compared with extensive genetic databases to detect significant mutations. The company uses advanced bioinformatics and artificial intelligence (AI) to interpret these findings.
GeneDx’s chief medical officer Paul Kruszka said: “GUARDIAN is proof of principle that we can apply medicine’s most advanced technology in an accurate, actionable and responsible way to ensure that more children have access to an early diagnosis to prevent disease progression.”
In October 2023, GeneDx announced a plan to cut annual operating expenses by approximately $40m, which included laying off 10% of its workforce. The company also secured $75m in funding through a five-year credit facility with Perceptive Advisors.
