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Last Posted: Aug 11, 2022
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Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery
F Lynch et al, EJHG, August 11, 2022

The delivery of rapid genomic sequencing (rGS) to critically unwell children in intensive care occurs at a time of immense pressure and stress for parents. Contact with families after result disclosure, particularly after hospital discharge, presents an opportunity to meet their psychological, medical and information needs as they evolve. This study explores the preferences and perspectives of health professionals and parents of genetics follow up after rGS. Semi-structured interviews were conducted with 30 parents, seven genetic counsellors (GCs) and four intensive care physicians with experience in rGS.

Maintaining genomic surveillance using whole-genome sequencing of SARS-CoV-2 from rapid antigen test devices
GE Martin et al, he Lancet Infectious Diseases, August 4, 2022

Genomic sequencing of SARS-CoV-2 has had a major role in the public health response to the COVID-19 pandemic, enabling mapping of viral transmission at global and local levels, informing infection control measures, and, importantly, identifying and tracking the emergence of new SARS-CoV-2 variants. The rapid detection and characterization of new variants is crucial for informing the potential efficacy of vaccines and therapeutics.

Development, testing and validation of a SARS-CoV-2 multiplex panel for detection of the five major variants of concern on a portable PCR platform
BJ Stanhope et al, MEDRXIV, August 2, 2022

We have created a panel of four triplex RT-qPCR assays targeting 12 mutations to detect and differentiate all five variants of concern: Alpha, Beta, Gamma, Delta and Omicron. We also developed an expanded pentaplex assay that can reliably distinguish among the major sublineages (BA.1-BA.5) of Omicron. In silico, analytical and clinical testing of the variant panel indicate the assays have a sensitivity and specificity of >95%. This variant panel can be used as a Research Use Only screening tool for triaging SARS-CoV-2 positive samples prior to whole genome sequencing.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
MJ Owen et al, Nat Comm, July 26, 2022

While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for genetic disease diagnosis and acute management guidance. Diagnosis is achieved in 13.5?h by expedited whole genome sequencing, with superior analytic performance for structural and copy number variants

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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.

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