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Last Posted: Feb 29, 2024
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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Kristen M Wigby et al. NPJ Genom Med 2024 2 (1) 15

From the abstract: "Seventy-one studies met inclusion criteria, comprising over 13,000 patients who received GS in one of the following settings: hospitalized pediatric patients, pediatric outpatients, adult outpatients, or mixed. GS was the first-line test in 38% (27/71). The unweighted mean DY of first-line GS was 45% (12–73%), 33% (6–86%) in cohorts with prior genetic testing, and 33% (9–60%) in exome-negative cohorts. Clinical utility was reported in 81% of first-line GS studies in hospitalized pediatric patients. "

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
Stephen F Kingsmore et al. NPJ Genom Med 2024 2 (1) 17

From the abstract: " Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome sequencing (RES) are diagnostic tests for genetic diseases for ICU patients. In 44 studies of children in ICUs with diseases of unknown etiology, 37% received a genetic diagnosis, 26% had consequent changes in management, and net healthcare costs were reduced by $14,265 per child tested by URGS, RGS, or RES. URGS outperformed RGS and RES with faster time to diagnosis, and higher rate of diagnosis and clinical utility. "

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk
M Galey et al, GIM Open, February 24, 2024

From the abstract: "This proof-of-concept experiment demonstrates how prior knowledge of haplotype structure or familial variants can be used to rapidly evaluate an individual at risk for a genetic disease. While ultra-rapid sequencing remains both complex and cost prohibitive, our method is more easily automated than prior approaches and uses smaller volumes of blood, thus may be more easily adopted for future studies of ultra-rapid genome sequencing in the clinical setting. "

Enhancing Neonatal Intensive Care With Rapid Genome Sequencing.
Shan Jiang et al. JAMA Netw Open 2024 2 (2) e240097

From the article: "Early diagnosis through genome sequencing can significantly transform clinical care for critically ill neonates. Traditional testing methods often fall short in accurately diagnosing genetic conditions due to overlapping symptoms in this age group. Genome sequencing, on the other hand, has proven more effective and has been used in various contexts for identifying hereditary conditions. A recent study highlights the practicality and benefits of rapid trio genome sequencing (rtGS) in neonatal intensive care units (NICUs) in Israel. "

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.