More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care.
More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 international initiatives are exploring the expansion of newborn screening using genomic sequencing , but a new study highlights the substantial variability in gene selection among those programs.
More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 international initiatives are exploring the expansion of newborn screening using genomic sequencing , but a new study by researchers from Mass General Brigham highlights the substantial variability in gene selection among those programs. In a paper published in, an official journal of the American College of Medical Genetics and Genomics, they offer a data-driven approach to prioritizing genes for public health consideration. "It's critical that we be thoughtful about which genes and conditions are included in genomic newborn screening programs," said co-senior author Nina Gold, MD, director of Prenatal Medical Genetics and Metabolism at Massachusetts General Hospital , a founding member of the Mass General Brigham healthcare system."By leveraging machine learning, we can provide a tool that helps policymakers and clinicians make more informed choices, ultimately improving the impact of genomic screening programs." The authors introduce a machine learning model that brings structure and consistency to the selection of genes for NBSeq programs. This is the first publication from the International Consortium of Newborn Sequencing , founded in 2021 by senior author Robert C. Green, MD, MPH, director of the Genomes2People Research Program at Mass General Brigham, and David Bick, MD, PhD, of Genomics England in the United Kingdom. Researchers analyzed 4,390 genes included across 27 NBSeq programs, identifying key factors influencing gene inclusion. While the number of genes analyzed by each program ranged from 134 to 4,299, only 74 genes were consistently included in over 80% of programs. The strongest predictors of gene inclusion were whether the condition is on the U.S. Recommended Uniform Screening Panel, has robust natural history data, and if there is strong evidence of treatment efficacy. Using these insights, the team developed a machine learning model incorporating 13 predictors, achieving high accuracy in predicting gene selection across programs. The model provides a ranked list of genes that can adapt to new evidence and regional needs, enabling more consistent and informed decision-making in NBSeq initiatives worldwide. "This research represents a significant step toward harmonizing NBSeq programs and ensuring that gene selection reflects the latest scientific evidence and public health priorities," said Green.Early results from 4,000 babies show that genome sequencing picks up many more serious health conditions than standard newborn screening and is favored by most ... A team of researchers published new findings that emphasize the crucial role of the urinary and genital tract microbiota in adverse pregnancy outcomes and genomic instability that originate in the ... A new study demonstrates that in utero exposure to mother's antiepileptic or antidepressant medication may affect development of the newborn brain networks. In the study, novel mathematical ... A pair of recent studies found that Oregon's Medicaid expansion in 2014 has led to increased prenatal care among low-income women, as well as improved health outcomes for newborn ...
Personalized Medicine Medical Topics Public Health Education Genetics Evolutionary Biology Life Sciences Developmental Biology
United States Latest News, United States Headlines
Similar News:You can also read news stories similar to this one that we have collected from other news sources.
8 million years of 'Green Arabia' | ScienceDailyA new study reveals the modern arid desert between Africa and Saudi Arabia was once regularly lush and green with rivers and lakes over a period of 8 million years, allowing for the occupation and movements of both animals and hominins.
Read more »
Finding cancer's 'fingerprints' | ScienceDailyCancer diagnoses traditionally require invasive or labor-intensive procedures such as tissue biopsies. Now, research reveals a method that uses pulsed infrared light to identify molecular profiles in blood plasma that could indicate the presence of certain common cancers.
Read more »
Colourful city birds | ScienceDailyBird species that do well in urban areas are more colorful and less brown.
Read more »
Global EV adoption fails to cut CO2 | ScienceDailyThe transition to electric vehicles won't reduce carbon emissions unless countries clean up their electricity grids.
Read more »
Southern shrews shrink in winter | ScienceDailyNewly published research shows that the masked shrew, a small, mole-like mammal found in the Appalachian Mountains, shrinks its body and braincase to conserve energy during winter months.
Read more »
Artificial skin from hydrogels | ScienceDailyGrowing cells in the laboratory is an art that humans have mastered decades ago. Recreating entire three-dimensional tissues is much more challenging.
Read more »