Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control.
Jody E Phelan et al. Genome Med 2023 11 (1) 96
From the abstract: "Malaria continues to be a major threat to global public health. Whole genome sequencing (WGS) of the underlying Plasmodium parasites has provided insights into the genomic epidemiology of malaria. Genome sequencing is rapidly gaining traction as a diagnostic and surveillance tool for clinical settings, where the profiling of co-infections, identification of imported malaria parasites, and detection of drug resistance are crucial for infection control and disease elimination. To support this informatically, we have developed the Malaria-Profiler tool, which rapidly (within minutes) predicts Plasmodium species, geographical source, and resistance to antimalarial drugs directly from WGS data. "
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia.
Danya F Vears et al. Eur J Hum Genet 2023 10
From the abstract: "Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be offered. Explicit informed consent for rapid genomic testing should be obtained, even in acute care settings. "
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
F Guo et al, Genetics in Medicine, October 12, 2023
From the abstract: "Genome sequencing (GS) is one of the most comprehensive assays that interrogate single nucleotide variants, copy number variants, mitochondrial variants, repeat expansions, and structural variants in one assay. Despite the clear technical superiority, the full clinical utility of GS has yet to be determined. The overall diagnostic yield was 28% (585/2100). The diagnostic yield for GS as the first-tier test was 26% (294/1146). Among cases with prior non-diagnostic genetic tests, GS provided a diagnosis for 27% (247/910) of cases. "
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
M Peter et al, EJHG, October 3, 2023
From the article: "In this study, we used cross-sectional surveys to compare the knowledge, attitudes, and decision regret of 100kGP participants at the time of consenting for GS and at least 12 months later. Like other work in which public attitudes towards GS have been shown to be favorable our study showed that, in general, people felt positively about GS with most reporting it to be beneficial. Notably, we showed that attitudes towards GS remained stable over time, with both positive and negative feelings towards GS remaining unchanged for individuals between T1 and T2."