With the ever-widening gap between what is technologically possible and services available, jurisdictions around the world are faced with complex decisions regarding the introduction and expansion of genetic screening programs. A series of literature reviews and consultations with stakeholders and experts led to the development of a decision support guide for genetic screening policy-making. This involved establishing a preliminary list of core criteria synthesized from the growing literature on genetic screening, which was then transformed through a series of consultations into a more elaborate decision guide. Although certain perennial challenges in genetic screening policy-making remain, the decision support guide aims to promote a fair and evidence-informed process that makes explicit the ethical dilemmas often inherent to such policy decisions.
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http://dx.doi.org/10.1159/000272898 | DOI Listing |
China CDC Wkly
January 2025
Department of Clinical Laboratory, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou City, Zhejiang Province, China.
Introduction: Type F () represents a significant pathogen in human gastrointestinal diseases, primarily through its gene encoding enterotoxin (CPE). This investigation examined the prevalence, antimicrobial resistance patterns, and genetic characteristics of Type F within the Chinese population.
Methods: The study analyzed 2,068 stool samples collected from 11 provincial hospitals in 2024.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Gastroenterol Rep (Oxf)
January 2025
Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.
Intrahepatic cholangiocarcinoma (iCCA) is an aggressive liver malignancy that arises from second-order biliary epithelial cells. Its incidence is gradually increasing worldwide. Well-known risk factors have been described, although in many cases, they are not identifiable.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
Type 1 diabetes (T1D) polygenic risk scores (PRS) are effective tools for discriminating T1D from other diabetes types and predicting T1D risk, with applications in screening and intervention trials. A previously published T1D Genetic Risk Score 2 (GRS2) is widely adopted, but challenges in standardization and accessibility have hindered broader clinical and research utility. To address this, we introduce GRS2x, a standardized and cross- compatible method for accurate T1D PRS calculation, demonstrating genotyping and reference panel independent performance across diverse datasets.
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