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Published on October 27, 2023
Fore Genomics has launched its FORESITE 360 whole genome sequencing (WGS) service, which provides a complete DNA map of newborns, infants, and children using an at-home collection kit. The company says FORESITE 360 reveals genetically linked and clinically manageable diseases a baby or child might have now or could develop…
Published on October 3, 2023
Genomics England has published an initial list of over 200 rare conditions that will be screened as a part of its new Generation Study, a program aimed at understanding whether sequencing babies’ genomes through newborn screening can help discover and treat rare genetic conditions earlier. The study will analyze the DNA of over 100,000…
Published on January 25, 2023
The genomic data platform Lifebit has teamed up with PlumCare RWE in Delaware to help a Greek genomics initiative detect rare genetic diseases in newborn babies. The initiative, dubbed BeginNGS, is supported by the Rady Children’s Institute for Genomic Medicine in San Diego in addition to Greece’s National Organization of…
Published on July 11, 2022
Research led by the Children’s Hospital of Fudan in Shanghai shows that adding a genomic screening panel to testing for newborn hearing loss could improve accuracy of screening and allow affected children to get the help they need at an early stage. Affecting up to 0.3% of healthy babies and…
Published on April 8, 2022
Thanks largely to genomic advances, an increasing number of advocates are pushing for the use of genome sequencing to improve newborn screening. While this would undoubtedly improve risk assessment for a range of genetic conditions, challenges such as costs and ethical concerns could hinder rollout on a wider scale. Newborn…
Published on October 8, 2014
Since 1963, state public health programs have screened newborns for a number of life-altering health conditions. Many of these disorders are rare and genetic, and if caught in the first weeks of life they can be treated or managed to prevent death or a lifetime of disability. Early detection can…
Published on September 12, 2014
September is newborn screening awareness month. Since 1963, state public health programs have screened newborns for a number of life-altering health conditions. Many of these disorders are rare and genetic, and if caught in the first weeks of life they can be treated or managed to prevent death or a…
Published on June 4, 2014
PerkinElmer entered an agreement to serve as the exclusive collaborator with China's National Health and Family Planning Commission in developing and implementing an extensive three-year newborn screening training program focused on early detection of life-threatening disorders. The project is expected to increase adoption and access to newborn screening in the…
Published on December 13, 2022
The U.K. Health and Social Care Secretary, Steve Barclay, has announced a $215M plus investment in genomic research to improve diagnosis and treatment. The funding is part of a new three-year plan to “develop, evaluate, and roll out new technologies across the health and care system and life sciences sector,…
Published on December 1, 2021
Sharon F. Terry, President and CEO of Genetic Alliance The NICUSeq study group has recently reported on their randomized multisite time-delayed trial to test the clinical utility of whole-genome sequencing (WGS) in acutely sick newborns (NICUSeq study group, 2021). Their findings showed that WGS led to…
Published on May 12, 2020
VIEW NOW Originally Aired: June 2, 2020Time: 8:00 am PT, 11:00 am ET, 17:00 CET Over the past decade, advances in high-throughput genome sequencing together with dramatic cost reductions have transformed basic research and clinical medicine. Exome- and whole-genome analysis are becoming routine aspects of medical care, advancing the diagnosis…
Published on June 13, 2023
The American College of Medical Genetics and Genomics (ACMG) has increased the recommended number of pathogenic variants in CFTR gene that can cause cystic fibrosis (CF) from 23 to a set of 100 variants. The new list supersedes the previous smaller group of variants for carrier screening, a form of…
Published on June 6, 2023
An analysis from the BabySeq Project, which trialed newborn sequencing in apparently healthy and unwell babies, found 17 infants with potentially pathogenic monogenic genetic findings that were all moderately or highly actionable. Of these infants, two-thirds were referred to specialist consultation, treatment or surveillance and all their at-risk first-degree relatives…
Published on May 8, 2023
Research led by Mass General Hospital for Children suggests that almost 90% of rare disease experts are in favor of newborn genome sequencing for monogenic treatable disorders. As reported in JAMA Network Open, the researchers also asked about newborn screening for actionable adult-onset conditions and screening for conditions with no…
Published on October 26, 2022
Newborn babies with cystic fibrosis who are from non-White ancestry are more likely to be left undiagnosed by healthcare staff, according to research from the University of California. The inherited disorder cystic fibrosis, which causes lung and other organ damage due to excessively thick and sticky mucus, is more common…