Expanded newborn screening using genome sequencing for early actionable conditions

JAMA

2024-10-24

(Press-News.org) About The Study: These interim findings demonstrate the feasibility of targeted interpretation of a predefined set of genes from genome sequencing in a population of different racial and ethnic groups. DNA sequencing offers an additional method to improve screening for conditions already included in newborn screening and to add those that cannot be readily screened because there is no biomarker currently detectable in dried blood spots. Additional studies are required to understand if these findings are generalizable to populations of different racial and ethnic groups and whether introduction of sequencing leads to changes in management and improved health outcomes.

Quote from corresponding author, Wendy K. Chung, MD, PhD:

“The GUARDIAN study represents a significant advancement in newborn health by demonstrating the feasibility of improving and expanding newborn screening to include hundreds of rare genetic disorders. This expansion enables earlier detection and treatment and promotes health equity.

“Notably, 72% of parents approached enrolled in the study. Among the 120 true positive results, 92% received a confirmed diagnosis for conditions not included in standard newborn screening, allowing for rapid, sometimes life-saving, treatment initiation and significantly reducing the time required for patients to receive a diagnosis.”

Contact information for Wendy K. Chung, MD, PhD: email Wendy.Chung@childrens.harvard.edu.

To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/

(doi:10.1001/jama.2024.19662)

Editor’s Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.

# # #

Embed this link to provide your readers free access to the full-text article This link will be live at the embargo time https://jamanetwork.com/journals/jama/fullarticle/10.1001/jama.2024.19662?guestAccessKey=5344c8b7-0e87-4c88-9660-55b788317c15&utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_content=tfl&utm_term=102424

END

ELSE PRESS RELEASES FROM THIS DATE:

In pioneering study, gene technology outperforms standard newborn screening tests

2024-10-24

Early results from a study of newborn screening methods show that DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening and is favored by most parents who are offered the option. The study—called GUARDIAN—is one of the first large-scale studies in the world to use genome sequencing as a method for newborn screening and is the first to publish preliminary results. “The results show us that genome sequencing can radically improve children’s medical care,” says Joshua Milner, professor of Pediatrics, director of Allergy/Immunology and Rheumatology ...

Racial disparities in receipt of guideline-concordant care in older adults with early breast cancer

2024-10-24

About The Study: In this cohort study, non-Hispanic Black race was associated with increased odds of not receiving guideline-concordant care (GCC) and less timely treatment initiation. Non-Hispanic Black race was associated with increased all-cause mortality, which was reduced after adjusting for GCC and clinical and sociodemographic factors. These findings suggest that optimizing timely receipt of GCC may represent a modifiable pathway to improving inferior survival outcomes among older non-Hispanic Black ...

Fentanyl, heroin, methamphetamine, and cocaine analyte concentrations in urine drug testing specimens

2024-10-24

About The Study: This cross-sectional study found that absolute concentrations of fentanyl, methamphetamine, and cocaine in urine specimens increased from 2013 to 2023, with a decrease in heroin concentration during that period. The findings suggest that exposure to these substances, as well as the illicit drug supply, has fundamentally changed in many parts of the U.S., highlighting the need to reinforce surveillance initiatives and accelerate efforts to treat individuals with illicitly manufactured fentanyl and/or stimulant exposure. Corresponding Author: To ...

UCLA researchers engineer experimental drug for preventing heart failure after heart attacks

2024-10-24

Scientists at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have developed a first-of-its-kind experimental therapy that has the potential to enhance heart repair following a heart attack, preventing the onset of heart failure. Cardiovascular disease continues to be the world’s leading cause of death, contributing to one-third of deaths annually. After a heart attack, the heart’s innate ability to regenerate is limited, causing the muscle to develop scars to maintain its structural integrity. ...

Combining targeted therapy and immunotherapy improves overall survival in patients with anaplastic thyroid cancer

2024-10-24

HOUSTON ― Researchers from The University of Texas MD Anderson Cancer Center demonstrated that anti-PD-L1 immunotherapy in combination with mutation-directed targeted therapy extended overall survival (OS) in patients with anaplastic thyroid carcinoma (ATC). Findings from the Phase II single center study published today in JAMA Oncology. The trial enrolled 42 patients across three cohorts to evaluate mutation-matched targeted therapy and the immune checkpoint inhibitor atezolizumab. The median OS across all cohorts was 19 months, which compares favorably to historical OS of five months for patients with ATC. ...

Assessing the real climate costs of manufacturing

2024-10-24

Producing materials such as steel, plastics and cement in the United States alone inflicts $79 billion a year in climate-related damage around the world, according to a new study by engineers and economists at the University of California, Davis. Accounting for these costs in market prices could encourage progress toward climate-friendly alternatives. “We wanted to look at the cost to society to produce these materials,” said Elisabeth Van Roijen, a recent Ph.D. graduate from the UC Davis Department of Civil and Environmental Engineering ...

A multi-functional simulation platform for on-demand ride service operations

2024-10-24

On-demand ride services or ride-sourcing services have been experiencing fast development and steadily reshaping the way people travel in the past decade. Various optimization algorithms, including reinforcement learning approaches, have been developed to help ride-sourcing platforms design better operational strategies to achieve higher efficiency. However, due to cost and reliability issues, it is commonly infeasible to validate these models and train/test these optimization algorithms within real-world ride-sourcing platforms. Acting as a proper test bed, a simulation platform for ride-sourcing systems will thus be essential for both ...

Research team undertakes review of carbon anodes for lithium-ion batteries

2024-10-24

A team of researchers has undertaken a study of the future of carbon anodes for lithium-ion batteries. Their review provides a comprehensive overview of the progression in carbon anode development and the current status of their industrialization. This study underscores the critical role of interphase regulation engineering in advancing lithium-ion battery technology. Their research is published in the journal Carbon Future on September 24, 2024. Today, graphite is the most commonly used material for anodes in lithium-ion batteries. Graphite can operate at a low voltage, is readily available, and cost effective. While graphite materials ...

Researchers improve speed and accuracy of 3D surface measurements

2024-10-24

WASHINGTON — Researchers have developed a faster and more accurate method for acquiring and reconstructing high-quality 3D surface measurements. The approach could greatly improve the speed and accuracy of surface measurements used for industrial inspection, medical applications, robotic vision and more. “Traditional 3D imaging works by comparing two viewpoints, similar to how our eyes work together to judge depth,” said research team leader Ce Zhu from the University of Electronic Science and Technology of China. “In contrast, our new approach ‘feels’ the surface by projecting light ...

GPX4 promoter hypermethylation induced by ischemia/reperfusion injury regulates hepatocytic ferroptosis

2024-10-24

Background and Aims Glutathione peroxidase 4 (GPX4) is a key factor in ferroptosis, which is involved in ischemia-reperfusion injury. However, little is known about its role in hepatic ischemia-reperfusion injury (HIRI). This study aimed to investigate the role of GPX4 methylation in ferroptosis during HIRI. Methods For the in vivo experiments, an ischemia-reperfusion model was created by subjecting mice to simulated HIRI. Ferroptosis occurrence, GPX4 promoter methylation, and global methylation levels were then assessed. Results Ferroptosis ...

International experts and patients unite to help ensure all patients are fully informed before consenting to new surgical procedures

Findings of study on how illegally manufactured fentanyl enters U.S. contradict common assumptions, undermining efforts to control supply

Satellite observations provide insight into post-wildfire forest recovery

[Press-News.org] Expanded newborn screening using genome sequencing for early actionable conditions
JAMA

Expanded newborn screening using genome sequencing for early actionable conditions

ELSE PRESS RELEASES FROM THIS DATE:

LAST 30 PRESS RELEASES: