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
Are we nearly there yet? Starts and stops on the road to use of polygenic scores.
Sowmiya Moorthie et al. J Community Genet 2023 9
From the paper: "The articles in this collection examine the practical, social, and ethical implications of polygenic risk scores across healthcare settings and different populations. As illustrated by the articles in this collection, uncertainty remains regarding the transferability, utility, and validity of PGS and how to responsibly adopt and implement this technology."
Systematic review of deep learning image analyses for the diagnosis and monitoring of skin disease.
Shern Ping Choy et al. NPJ Digit Med 2023 9 (1) 180
From the abstract: "We searched for studies applying deep learning to skin images, excluding benign/malignant lesions. The primary outcome was accuracy of deep learning algorithms in disease diagnosis or severity assessment. We modified QUADAS-2 for quality assessment. Of 13,857 references identified, 64 were included. The most studied diseases were acne, psoriasis, eczema, rosacea, vitiligo, urticaria. Deep learning algorithms had high specificity and variable sensitivity in diagnosing these conditions. Accuracy of algorithms in diagnosing acne (median 94%, IQR 86–98; n?=?11), rosacea (94%, 90–97; n?=?4), eczema (93%, 90–99; n?=?9) and psoriasis (89%, 78–92; n?=?8) was high. "
Emerging cancer risks in BRCA2 pathogenic germline variant carriers.
Patrick R Benusiglio et al. Eur J Hum Genet 2023 9
From the paper: "Carriers of pathogenic germline variants (PGV) in BRCA2 could soon be offered gastric cancer screening using gastroscopy. In the longer term, some might even take part in lung cancer screening programs. Indeed, while the risks of breast, ovarian, pancreatic and prostate cancer have been documented for years, recent data show an increased risk of gastric cancer, and suggest an association with lung cancer. This article focuses specifically on BRCA2, while sidelining its sister gene BRCA1, as evidence for a broad cancer spectrum is much stronger for the former."
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank.
Binglan Li et al. Am J Hum Genet 2023 9
From the abstract: "We applied the Pharmacogenomics Clinical Annotation Tool (PharmCAT) on an integrated 200K UK Biobank genetic dataset (N = 200,044). Based on PharmCAT results, we estimated PGx frequencies (alleles, diplotypes, phenotypes, and activity scores) for 17 pharmacogenes in five biogeographic groups: European, Central/South Asian, East Asian, Afro-Caribbean, and Sub-Saharan African. PGx frequencies were distinct for each biogeographic group. Even biogeographic groups with similar proportions of phenotypes were driven by different sets of dominant PGx alleles. "
Where Medical Statistics Meets Artificial Intelligence.
David J Hunter et al. N Engl J Med 2023 9 (13) 1211-1219
From the paper: " The very features that make AI a valuable tool for data analysis are the same ones that make it vulnerable from a statistical perspective. This paradox is particularly pertinent for medical science. Techniques that are adequate for targeted advertising to voters and consumers or that enhance weather prediction may not meet the rigorous demands of risk prediction or diagnosis in medicine.7,8 In this review article, we discuss the statistical challenges in applying AI to biomedical data analysis and the delicate balance that researchers face in wishing to learn as much as possible from data while ensuring that data-driven conclusions are accurate, robust, and reproducible. "