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Inter-individual variation of drug metabolising enzymes (DMEs) leads to variable efficacy of many drugs and even adverse drug responses. Consequently, it would be desirable to test variants of many DMEs before drug treatment. Inter-ethnic differences in frequency mean that the choice of SNPs to test may vary across population groups. Here we examine the utility of testing representative groups as a way of assessing what variants might be tested. We show that publicly available population information is potentially useful for determining loci for pre-treatment genetic testing, and for determining the most prevalent risk haplotypes in defined groups. However, we also show that the NHS England classifications have limitations for grouping for these purposes, in particular for people of African descent. We conclude: (1) genotyping of hospital patients and people from the hospital catchment area confers no advantage over using samples from appropriate existing ethnic group collections or publicly available data, (2) given the current NHS England Black African grouping, a decision as to whether to test, would have to apply to all patients of recent Black African ancestry to cover reported risk alleles and (3) the current scarcity of available genome and drug effect data from Africans is a problem for both testing and treatment decisions.
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http://dx.doi.org/10.1038/s41397-020-0175-0 | DOI Listing |
Nat Med
September 2025
Department of Metabolism, Digestion and Reproduction, Faculty of Medicine, Imperial College London, London, UK.
Existing evaluations of the National Health Service Diabetes Prevention Programme (NHS DPP) in England have demonstrated associated reductions in body weight, hemoglobin A1c and incident type 2 diabetes (T2D). In this study, we examined associations between completion of the NHS DPP and incidence of T2D and 30 other long-term conditions (LTCs), including LTCs considered linked to the program's interventional goals of body weight reduction, increased physical activity and improved diet quality (LTC-L) and LTCs considered to be possibly linked to those goals (LTC-PL). We found that completers of the NHS DPP had lower incidences of T2D, LTC-L and LTC-PL compared to non-attenders.
View Article and Find Full Text PDFBJGP Open
September 2025
Institute for Global Health, University College London, London, United Kingdom
Background: Over the past decade, remote (non-face-to-face) services are being increasingly used in primary care, including interactions through telephone and online platforms. These services bring potential benefits as well as potential barriers for patients. Older migrants are a population that could face intersectional barriers when accessing healthcare; it is important to understand the impact of remote services on them.
View Article and Find Full Text PDFBMJ Case Rep
September 2025
Guy's and St Thomas' Hospitals NHS Trust, London, England, UK.
Autosomal recessive renal tubular dysgenesis (RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system, with the most common outcomes being foetal or neonatal death from renal failure, pulmonary hypoplasia and/or refractory arterial hypotension. A small proportion of patients survive past the neonatal period. We present the case of a toddler with RTD due to compound heterozygous variants in the gene that codes for ACE, who has not required renal replacement therapy to date and in whom fludrocortisone has achieved electrolyte and acid/base balance.
View Article and Find Full Text PDFPract Neurol
September 2025
Neurology Department, Croydon University Hospital, London, England, UK
A 22-year-old woman had an 8-year history of progressive bilateral vision loss and of diabetes mellitus. Her mother had diabetes and two first cousins had severe congenital deafness. On examination, her visual acuities were 6/36 bilaterally, with absent colour vision and gross optic disc pallor.
View Article and Find Full Text PDFHeart
September 2025
Kingston University, London, UK.
Importance/background: The 12-lead ECG is recommended in clinical guidelines for prehospital assessment of patients with suspected acute coronary syndrome (ACS) presenting to Emergency Medical Services (EMS).
Objectives: To determine prehospital ECG (PHECG) utilisation since UK national rollout of primary percutaneous coronary intervention, and whether this is associated with clinical outcomes in patients with ACS.
Design: Population-based, linked cohort study using Myocardial Ischaemia National Audit Project data from 1 January 2010 to 31 December 2017, related to patients with ACS conveyed by the EMS to hospital in England and Wales.