Newborn screening project: one in 10 has genetic mutations
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As many as 16 out of 159 newborns (over 10%) undergoing newborn screening presented mutations in genes associated with possible future diseases. This was reported by the new results of BabySeq, the multi-year genetic screening project conducted by the most important hospitals in Boston, Brigham and Woman Hospital and Boston Children.
Researchers leading the world’s first comprehensive sequencing program for newborns have published in theAmerican Journal of Human Genetics the next chapter of the ongoing study, with new findings on infants and families followed for 3-5 years.
The researchers reported that the panel came up with unexpected mutations in disease-associated genes, all of which are medically treatable, meaning the child would likely benefit from early treatment or monitoring. When their families were followed up over the next five years, these findings led to genetic testing, specialist consultations and even interventions among the newborns’ at-risk family members. Specifically, at-risk mothers of three infants identified as having a previously unrecognized high risk of late-onset cancer chose to have preventive interventions.
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“By screening apparently healthy newborns, entire families were alerted for the first time to the presence of dangerous but treatable genetic variants,” he said. Robert C. Greenphysician and scientist at Brigham and Women’s Hospital and professor of genetics at Harvard Medical School, who co-directs the BabySeq Project – we were amazed to see that, without specific study leads, newborn sequencing prompted life-saving actions to different mothers”.
Newborn screening
Currently, babies born in US hospitals undergo routine newborn screening, a laboratory test to identify risk for up to 60 treatable conditions. However, hundreds of other genetic diseases, including a growing number of devastating childhood diseases now have targeted therapies, including gene and cell therapies that can offer prevention or permanent cures. With these developments, the implementation of neonatal DNA sequencing has become more urgent.
What is the BabySeq project
Project BabySeq is a first-of-its-kind randomized clinical trial that began as a collaboration between Brigham and Women’s Hospital and Boston Children’s Hospital and has expanded to include Massachusetts General Hospital. The study was designed to make the best possible use of genomics in neonatal clinical medicine.
The first phase of the study
The first phase of the study enrolled 325 infants and families from nurseries and neonatal intensive care unit wards of the hospitals involved between 2013 and 2018. Half of the infants received genomic sequencing with full interpretation on nearly 1,000 genes.
The second stage: the results
The sequencing looked for genetic risk-related variants for childhood-onset conditions, as well as several highly actionable adult-onset conditions that could only be inherited from one parent. Families were followed up for 3-5 years to understand medical, behavioral, and economic outcomes.
DNA sequencing of newborns has not only revealed the risk of future diseases, but in some cases has uncovered hidden conditions that were already present. For example, in one of the healthy infants enrolled in the study, the researchers detected a harmful change in the ELN gene, which can cause supravalvular aortic stenosis, a condition that, if left untreated, could lead to heart failure. During follow-up testing, previously unsuspected narrowing of the aorta was found.
“Both our research team and the family were surprised that a DNA test led to the discovery of an anatomical abnormality in this child,” said co-lead author. Nidhi ShahMD, medical geneticist at Dartmouth Health Children’s and contributor to the Genomes2People Research Program.
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“The results of this study indicate that conducting accurate genetic sequencing of newborns has the potential to significantly improve health outcomes for children and their families,” he said. Alan Beggsdirector of the Manton Center for Orphan Disease Research at Boston Children’s Hospital and responsible for this BabySeq project.
This type of DNA test is particularly effective for diagnosing rare diseases. Indeed, in a separate study recently published by BabySeq researchers, 88 percent of rare disease experts agreed that DNA sequencing to screen for treatable childhood disorders should be made available to all newborns.
The comment
“This is certainly a serious study, which must be read very carefully and cautiously – he specifies Carlo Dionisi Vici, Head of Metabolic Diseases at the Bambino Gesù Pediatric Hospital – because it opens up a completely new scenario in the field of extensive newborn screenings, which today are mainly of a biochemical and non-genetic nature. An undoubtedly promising scenario, which shows us the potential of genomics, but which needs – in order to be manageable – new regulatory criteria (the current ones of the WHO date back to 1968) which can guarantee compliance with ethical issues such as privacy, broadened and non-exclusive access to these services, risk management in relation to the curability or otherwise of the pathologies detected, the role of the private sector. The figure, for example, which would reveal the presence of genetic mutations associated with possible future diseases in 10% of the children analysed, appears very high. But genetic diversity is not always necessarily synonymous with disease. In short, evidence of a possible future scenario, to be managed with clear and shared rules.”
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