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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Archived Hot Topics of the Day By Date
Making Electronic Health Records Both SAFER and SMARTER
KB Johnson et al, JAMA, July 14, 2022
Today, it is increasingly clear that electronic health record (EHR) implementation in the US has failed to live up to expectations. Although the benefits of digital infrastructure are substantial, the adverse effects are as well. Today’s focus on interoperability opens the door to integrating novel approaches such as self-documenting clinical environments into tomorrow’s digital connectivity infrastructure. Today’s EHR infrastructure can continue to be used for what it does well, while enabling goal-oriented, interdisciplinary research and development to push toward solutions to the cognitive grand challenges of rapidly advancing biomedical science and health care landscapes.
BA.4 and BA.5 Subvariants Are More Evasive of Antibodies, but Not of Cellular Immunity
M Gandhi, MEDSCAPE, July 12, 2022
The picture around the BA.4 and BA.5 subvariants of Omicron has been really confusing in that the pair is driving up cases but global COVID-19 deaths remain at their lowest level since the beginning of the pandemic. I wanted to explain what is happening with these subvariants in that the picture seems to be one of antibody evasion without the dodging of cellular immunity. Explaining the two components of the immune response — antibodies vs cellular immune responses — can help us understand where we are in the pandemic and future booster options.
Efficient Tracing of the SARS-CoV-2 Omicron Variants in Santa Barbara County Using a Rapid Quantitative Reverse Transcription PCR Assay
Z Aralis et al, MEDRXIV, July 13, 2022
BNT162b2 effectiveness against Delta & Omicron variants in teens by dosing interval and duration
IG Ionescu et al, MEDRXIV, July 13, 2022
Incidence, risk factors, natural history, and hypothesised mechanisms of myocarditis and pericarditis following covid-19 vaccination: living evidence syntheses and review.
Pillay Jennifer et al. BMJ (Clinical research ed.) 2022 7 e069445
The findings indicate that adolescent and young adult men are at the highest risk of myocarditis after mRNA vaccination. Use of a Pfizer vaccine over a Moderna vaccine and waiting for more than 30 days between doses might be preferred for this population. Incidence of myocarditis in children aged 5-11 years is very rare but certainty was low. Data for clinical risk factors were very limited. A clinical course of mRNA related myocarditis appeared to be benign, although longer term follow-up data were limited. Prospective studies with appropriate testing (eg, biopsy and tissue morphology) will enhance understanding of mechanism.
Myocarditis and pericarditis risk after covid-19 vaccination
BMJ Editorial, July 13, 2022
Despite the large numbers of studies reviewed, the overall certainty of the conclusions remains low, with a very wide range reported for myocarditis incidence. That we are now more than a year and a half into mass mRNA vaccination and still do not have strong certainty about the incidence of this clinically important outcome is disappointing. Because these events are rare, making precise estimates is difficult.
Development of a multiomics model for identification of predictive biomarkers for COVID-19 severity: a retrospective cohort study
SK Byeon et al, The Lancet Digital Health, July 11, 2022
We quantified 1463 cytokines and circulatory proteins, along with 902 lipids and 1018 metabolites. By developing a machine-learning-based prediction model, a set of 102 biomarkers, which predicted severe and clinical COVID-19 outcomes better than the traditional set of cytokines, were discovered. These predictive biomarkers included several novel cytokines and other proteins, lipids, and metabolites.
Skin Cancer Research Goes Digital: Looking for Biomarkers within the Droplets
EG Dobre et al, JPM. July 2022
Droplet digital polymerase chain reaction (ddPCR), a robust method for detecting and quantifying low-abundance nucleic acids, has recently emerged as a powerful technology for skin cancer analysis in tissue and liquid biopsies (LBs). The ddPCR method, being capable of analyzing various biological samples, has proved to be efficient in studying variations in gene sequences, including copy number variations (CNVs) and point mutations, DNA methylation, circulatory miRNome, and transcriptome dynamics. Moreover, ddPCR can be designed as a dynamic platform for individualized cancer detection and monitoring therapy efficacy.
Incorporating family history of disease improves polygenic risk scores in diverse populations
MLA Hujeol et al, Cell Genomics, July 13, 2022
Polygenic risk scores (PRSs) derived from genotype data and family history (FH) of disease provide valuable information for predicting disease risk, but PRSs perform poorly when applied to diverse populations. Here, we explore methods for combining both types of information (PRS-FH) in UK Biobank data. We evaluated PRS, FH, and PRS-FH using liability-scale R2, primarily focusing on 3 well-powered diseases (type 2 diabetes, hypertension, and depression). PRS attained average prediction R2s of 5.8%, 4.0%, and 0.53% in non-British Europeans, South Asians, and Africans, confirming poor cross-population transferability. In contrast, PRS-FH attained average prediction R2s of 13%, 12%, and 10%, respectively, representing a large improvement in Europeans and an extremely large improvement in Africans. In conclusion, including family history improves the accuracy of polygenic risk scores, particularly in diverse populations.