Rising prices for new, transformative therapies are challenging health systems around the world, leading many payers and providers to begin rationing access to treatments, even in the countries that have been most resistant to doing so. This is the case for direct-acting antivirals (DAAs) for the treatment of hepatitis C virus (HCV). However, little attention has been paid to the increasing role that human genetics might play in rationing decisions. Researchers have already proposed that genetic markers associated with spontaneous HCV clearance could be used to restrict DAA access for some patients, although treatment would be medically beneficial for those patients. Would such forms of rationing present a form of genetic discrimination? And what of the public health implications of these approaches? Here we present an ethical analysis of such proposals for "precision rationing" and raise 4 key areas of concern. We argue that ethical issues arising in this area are not substantively different from the pressing ethical issues regarding rationing and discrimination more broadly, but provide important impetus for motivating broad public debate to find ethically sound ways of managing genomics and new expensive medications.
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http://dx.doi.org/10.1159/000508141 | DOI Listing |
Neurology
February 2025
Department of Integrated Traditional Chinese and Western Medicine, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Background And Objectives: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme that regulates folate and homocysteine metabolism. Genetic variation in has been implicated in cerebrovascular disease risk, although research in diverse populations is lacking. We thus aimed to investigate the effect of genetically predicted MTHFR activity on risk of ischemic stroke (IS) and its main subtypes using a multiancestry Mendelian randomization (MR) approach.
View Article and Find Full Text PDFJCO Precis Oncol
January 2025
Sarcoma Translational Research Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Purpose: Less than 5% of GI stromal tumors (GISTs) are driven by the loss of the succinate dehydrogenase (SDH) complex, resulting in a pervasive DNA hypermethylation pattern that leads to unique clinical features. Advanced SDH-deficient GISTs are usually treated with the same therapies targeting KIT and PDGFRA receptors as those used in metastatic GIST. However, these treatments display less activity in the absence of alternative therapeutic options.
View Article and Find Full Text PDFJCO Glob Oncol
January 2025
University of Oxford, Oxford, United Kingdom.
Purpose: Epstein-Barr virus (EBV)-positive Burkitt lymphoma (BL) affects children in sub-Saharan Africa, but diagnosis via tissue biopsy is challenging. We explored a liquid biopsy approach using targeted next-generation sequencing to detect the -immunoglobulin (-Ig) translocation and EBV DNA, assessing its potential for minimally invasive BL diagnosis.
Materials And Methods: The panel included targets for the characteristic -Ig translocation, mutations in intron 1 of , mutations in exon 2 of , and three EBV genes: EBV-encoded RNA (EBER)1, EBER2, and EBV nuclear antigen 2.
Am J Physiol Endocrinol Metab
January 2025
National Agri-Food and Biomanufacturing Institute (BRIC-NABI), Food & Nutrition Biotechnology Division, S.A.S Nagar, Sector 81 (Knowledge City), Punjab, India.
Neuroimmunometabolism describes how neuroimmune cells, such as microglia, adapt their intracellular metabolic pathways to alter their immune functions in the CNS. Emerging evidence indicates that neurons also orchestrate the microglia mediated immune response through neuro-immune crosstalk perhaps through metabolic signalling. However, little is known about how the brain's metabolic microenvironment and microglial intracellular metabolism orchestrate the neuroimmune response in healthy and diseased brains.
View Article and Find Full Text PDFScience
January 2025
Program in Craniofacial Biology, Department of Orofacial Sciences, Department of Anatomy, Institute for Human Genetics, Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA.
Lipid-rich cartilage points to nonmetabolic functions of lipid vacuoles in mammals.
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