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May 27, 2023

Last Posted: May-27-2023 07:28:33

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
A Slavotinek et al, NPJ Genomic Medicine, May 26, 2023

We identified definitive positive or probable positive results in 201/845 (23.8%) patients, with a significantly higher diagnostic rate in pediatric (26.7%) compared to prenatal patients (19.0%) (P?=?0.01). For both pediatric and prenatal patients, the diagnostic yield and frequency of inconclusive findings did not differ significantly between URM and non-URM patients or between patients with US status and those without US status.

Muscular dystrophy gene therapy nears approval, but safety concerns linger Use of viruses poses significant risks and, for now, prevents retreatment if benefits fade
J Kaiser, Science, May 23, 2023

Because of a mutation in the gene for dystrophin, DMD patients lack functioning copies of the huge protein that serves as a shock absorber inside muscle fiber cells. Without it, muscle cells become damaged and gradually die. Patients usually end up using a wheelchair by age 12 and succumb to heart or respiratory problems by age 30. (Most are boys; the dystrophin gene is on the X chromosome, so girls have two copies and rarely develop DMD.) Existing therapies are only modestly effective.

Education and Electronic Medical Records and Genomics Network, Challenges and Lessons Learned from a Large-Scale Clinical Trial Using Polygenic Risk Scores
JJ Connolly et al, Genet Med, May 26, 2023

The electronic Medical Records and Genomics (eMERGE) Network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (~2-10% per condition) for one or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes.

When Is a High Lipoprotein (a) Concentration Too High?-The Need for Diverse Population-Based Samples.
Sadiya S Khan et al. JAMA Cardiol 2023 5

Preclinical, epidemiologic, and genomic studies identify lipoprotein (a) (Lp[a]) as a risk factor for atherosclerotic cardiovascular disease (ASCVD). Lp(a) is a low-density lipoprotein (LDL)–like particle that is bound to apolipoprotein(a) and is causally implicated in the pathogenesis of ASCVD. Despite growing evidence supporting the potential utility of Lp(a) in risk stratification for ASCVD, challenges remain in defining a cut point for what constitutes a high Lp(a) concentration. These include variation observed in Lp(a) concentrations across racial and ethnic groups, as well as differences in accuracy across various assays.

Assessing the potential of polygenic scores to strengthen medical risk prediction models of COVID-19.
Aldo Córdova-Palomera et al. PLoS One 2023 5 (5) e0285991

In UK Biobank participants of European ancestry, the model achieved a relatively high performance (area under the receiver operating characteristic curve ~90%). Polygenic scores for COVID-19 computed from summary statistics of the Covid19 Host Genetics Initiative displayed significant associations with COVID-19 in the UK Biobank (p-values as low as 3.96e-9, all with R2 under 1%), but were unable to robustly improve predictive performance of the non-genetic factors.

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Genomics and Precision Public Health to provide current awareness of the scientific 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 Clips, 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.