Groundbreaking GUARDIAN Study Shows Benefits of Adding Genome Sequencing to Newborn Screening; Augments and Improves Standard Newborn Screening
Findings published today in JAMA (
The ongoing GUARDIAN study is a collaboration between
GUARDIAN’s principal investigator,
Findings from the study:
Over an 11-month period, 4,000 newborns were enrolled and 3.7 percent of newborns had positive screenings. The majority of those positive screens would not have been picked up by traditional NBS today. Of the 120 newborns with true positive findings, 92% had a confirmed diagnosis for a condition not included in traditional NBS. The study used genomic sequencing to look for 255 early-onset genetic conditions, including 156 that have established treatment and an additional 99 opt-in neurodevelopmental disorders that may benefit from treatment of associated epilepsy or early interventions.
Genetic conditions detected in newborns by GUARDIAN with known actions and treatments that are not screened with standard NBS include:
- Long QT syndrome, a rare heart condition that may cause Sudden Infant Death Syndrome (SIDS) and can be treated with beta-blockers
- Severe combined immunodeficiencies, which can be managed through stem cell transplant or gene-therapy and although included on traditional NBS, milder variants can be missed 1
- Wilson disease, which can be treated with liver transplant, as well as early zinc supplementation and a low-copper diet 2
Additionally, the study highlights the wide acceptance of more advanced and modernized NBS, with 72% of families approached for the study consenting to participate. Of those consenting to participate, the majority (90.6%) also requested inclusion of screening for optional neurodevelopmental disorders, suggesting most parents are interested in screening for diseases beyond the traditional NBS definition of actionability.
Diagnosing these rare genetic conditions can be a lengthy and challenging process, often taking 5 years or longer if they are ever diagnosed. 3,4 During this period, pediatric patients typically undergo an average of five uninformative medical tests and accumulate around
“Today we have scalable genomic technology that provides tremendous benefits to children, families and health systems right at our fingertips. We have an opportunity to end the diagnostic odyssey by delivering actionable diagnoses to children at birth,” said
There continues to be increasing support from rare genetic disease advocates, parents, and public health professionals to expand NBS to enable timely access to new, and often precise, rare disease therapies.8,9 GUARDIAN’s panel has expanded to cover 446 genes and over 460 conditions, including a number of genes associated with conditions like epilepsy, including developmental and epileptic encephalopathy, Dravet syndrome, Rett syndrome, Angelman syndrome and Duchenne muscular dystrophy. The GUARDIAN study is ongoing, with more than 13,000 newborns enrolled to date. The study is open to all babies born at one of the NewYork-Presbyterian hospitals in
“While work remains to ensure equitable access to testing and follow-up care, studies such as GUARDIAN provide strong evidence that whole genome sequencing of newborns can enable timely access to rare disease therapies, as well as support and resources for parents and caregivers,” said
About
About GUARDIAN
GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) is a research study conducted at
References
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Marwaha S, Knowles JW, and Ashley EA. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. | |
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Savatt JM, Myers SM. Front Pediatr. 2021 Feb 19;9:526779. doi: 10.3389/fped.2021.52679. | |
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Malinowski, J., Miller, D.T., Demmer, L. et al. Genet Med. 22, 986–1004 (2020). | |
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Downie L, Halliday J, Lewis S, Amor DJ. Principles of Genomic Newborn Screening Programs. JAMA Netw Open. 2021;4(7):e2114336. doi:10.1001/jamanetworkopen.2021.14336 | |
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Minear MA, Phillips MN, Kau A, Parisi MA. Newborn Screening Research Sponsored by the |
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