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Hot Topics of the Day|PHGKB
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02/02/2023

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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Archived Hot Topics of the Day By Date

Equity and inclusivity in research
AJHG February 2023

A deep understanding of human health and biology is made possible by rapid advances in genomics technology. However, the equitable application of genetic discoveries in healthcare and society will require active engagement with and empowerment of populations who, for too long, have been underrepresented in genetics and genomics research. In this collection, we highlight recent research and commentary that chart a course for centering inclusivity in human genetics and genomics.

Using genetic association data to guide drug discovery and development: Review of methods and applications
S Burgess et al, AJHG, February 2, 2023

Evidence on the validity of drug targets from randomized trials is reliable but typically expensive and slow to obtain. In contrast, evidence from conventional observational epidemiological studies is less reliable because of the potential for bias from confounding and reverse causation. Mendelian randomization is a quasi-experimental approach analogous to a randomized trial that exploits naturally occurring randomization in the transmission of genetic variants.

Inequities in COVID-19 vaccine and booster coverage across Massachusetts ZIP codes after the emergence of Omicron: A population-based cross-sectional study.
Jacob Bor et al. PLoS medicine 2023 1 (1) e1004167

We analyzed data on 418 ZIP codes. We observed wide geographic variation in primary series vaccination and booster rates, with marked inequities by ZIP code-level education, median household income, essential worker share, and racial/ethnic composition. In age-stratified analyses, primary series vaccine coverage was very high among the elderly. However, we found large inequities in vaccination rates among younger adults and children, and very large inequities in booster rates for all age groups.

The emergence of SARS-CoV-2 lineages and associated antibody responses among asymptomatic individuals in a large university community
MR Merling et al, MEDRXIV, February 1, 2023

Evaluation of a Commercially Available Rapid RT-PCR Assay's Detection of SARS-CoV-2 Novel Variants
L Back et al, MEDRXIV, February 1, 2023

Associations Between Polygenic Risk Score Loading, Psychosis Liability, and Clozapine Use Among Individuals With Schizophrenia.
Bochao D Lin et al. JAMA psychiatry 2022 12 (2) 181-185

Are polygenic risk scores for schizophrenia (PRS-SCZ) associated with a psychosis liability spectrum and a clinician’s decision to prescribe clozapine? In this genetic association study with 2344 participants from 2 cohorts, we found that PRS-SCZ loading was highest among individuals with schizophrenia spectrum disorders taking clozapine, followed by those taking other antipsychotics, their relatives, and unrelated healthy controls. In addition, PRS-SCZ was positively associated with a clozapine prescription relative to other antipsychotics.

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Jacqueline S Dron et al. JAMA cardiology 2023 2

What is the prevalence of protein-truncating variants (PTVs) in the apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes and their association with low-density lipoprotein (LDL) cholesterol levels and coronary heart disease (CHD)? In this genetic association study including 19?073 US participants and 190?464 UK participants, a PTV was identified in 0.4% of individuals. Estimated untreated LDL cholesterol concentrations were 32% to 37% lower in PTV carriers vs noncarriers, and PTVs were associated with a 49% reduction in CHD risk.

Cohort-guided insights into gene-environment interactions in autism spectrum disorders.
W Ian Lipkin et al. Nature reviews. Neurology 2023 1 1-8

Prospective birth cohorts offer unprecedented opportunities to investigate the pathogenesis of complex disorders such as autism, in which gene–environment interactions must be appreciated in a temporal context. This Perspective article considers the history of autism research, including missteps that reflected an incomplete understanding of the epidemiology of autistic spectrum disorders, the effects of advocacy and philanthropy on the trajectory of scientific inquiry, and the current and future roles of prospective birth cohort research.

Advancing CAR T cell therapy through the use of multidimensional omics data.
Jingwen Yang et al. Nature reviews. Clinical oncology 2023 1

In this Review, we summarize the multidimensional cellular and molecular profiling technologies that have been used to advance our mechanistic understanding of CAR T cell therapies. In addition, we discuss current applications and potential strategies leveraging multi-omics data to identify optimal target antigens and other molecular features that could be exploited to enhance the antitumour activity and minimize the toxicity of CAR T cell therapy.

Physicians in the era of technology-enabled diagnostics.
Rashmee U Shah et al. Nature reviews. Cardiology 2023 1

Health-care delivery is evolving, with an increased availability of consumer and medical technology-enabled diagnostic devices powered by artificial intelligence. Physicians need to evolve by deprioritizing old skills in favour of new skills in statistics and medical decision-making psychology. Technology moves fast; physicians will need to pivot and adapt quickly.


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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