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Hot Topics of the Day|PHGKB
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01/22/2023

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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A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon Anne-Sophie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 1 100018

Exploring Autistic adults' perspectives on genetic testing for autism.
Byres Loryn et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 1 100021

In total 461 respondents completed the survey: while 27% would have wanted genetic testing during childhood, 74% felt that it should only be offered if the Autistic individual is able to consent and 49% felt that genetic testing for autism should not be done at all. Additional work is required to bridge the divide between the Autistic community and health care providers and families to identify if and when genetic testing should be offered.

THE EVOLVING ROLE OF MEDICAL GENETICISTS IN THE ERA OF GENE THERAPY: AN URGENCY TO PREPARE.
Vockley Jerry et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 1 100022

Medical geneticists have well-established roles in the direct management of many rare genetic diseases and often provide support in the diagnosis and care of patients with such diseases. Because an increasing number of gene therapies are likely to become available over the next decade, there is a need to better define the role of medical geneticists within current and future gene therapy pathways and prepare for their expected role within the context of this new treatment paradigm.

Immunogenicity, Safety and Effectiveness of COVID-19 Pfizer-BioNTech (BNT162b2) mRNA Vaccination in Immunocompromised Adolescents and Young Adults: A systematic Review and Meta-Analyses
P Katoto et al, MEDRXIV, January 20, 2023

The overall estimated proportion of combined local and systemic reactions after the first BNT162b2 vaccination was 30%[95% CI: 17-42%] and slightly rose to 32% [95% CI: 19-44%] after the second dose. Rheumatic illnesses had the highest rate of AEFI (40%[95% CI: 16-65%]), while cystic fibrosis had the lowest (27%[95% CI: 17%-38%]). Hospitalizations for AEFIs were rare.

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.
Ghouse Jonas et al. Nature genetics 2023 1

We report a genome-wide association study of venous thromboembolism (VTE) incorporating 81,190?cases and 1,419,671?controls sampled from six cohorts. We identify 93?risk loci, of which 62 are previously unreported. Many of the identified risk loci are at genes encoding proteins with functions converging on the coagulation cascade or platelet function. A VTE polygenic risk score (PRS) enabled effective identification of both high- and low-risk individuals.

Wastewater-based Disease Surveillance for Public Health Action
National Academies Consensus Report, January 2023

The report concludes that wastewater surveillance is and will continue to be a valuable component of infectious disease management. This report presents a vision for a national wastewater surveillance system that would track multiple pathogens simultaneously and pivot quickly to detect emerging pathogens, and it offers recommendations to ensure that the system is flexible, equitable, and economically sustainable for informing public health actions. The report also recommends approaches to address ethical and privacy concerns and develop a more representative wastewater surveillance system. Predictable and sustained federal funding as well as ongoing coordination and collaboration among many partners will be critical to the effectiveness of efforts moving forward.


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch 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.
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