Objective: Anorexia Nervosa (AN) is a severe, debilitating disorder with a high mortality rate. Research indicates that genetics plays a significant role in AN manifestation and persistence. Genetic testing has the potential to transform how AN is treated, however, in clinical practice, care must be taken to consider the ethical complexities involved. Our objective was to perform an ethical analysis of genetic testing in AN.
Methods: We applied the principlist approach, taking into consideration the stakeholders involved and the core ethical principles of autonomy, beneficence, non-maleficence, and justice to (1) evaluate the possible ethical implications of the use of genetic testing in the treatment of patients with AN, and (2) assess whether such testing is justified and if so, under what conditions.
Results: Potential benefits of genetic testing identified include reduction of misdiagnosis and identification of treatable concurrent genetic conditions. The identified potential risks of genetic testing for possible AN-associated risk variants outside of a research setting, especially without more effective treatment options, include a false sense of reassurance for those testing negative and a reduced emphasis on the importance of behavioral-based therapies that may be of benefit.
Discussion: Genetic testing for complex disorders, including AN, has tremendous potential, but is still primarily research-based. Currently, for those presenting with atypical AN, and severe and enduring AN who, by definition, have not benefited from traditional treatment, genetic testing to rule out or identify other genetic conditions could be of benefit.
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http://dx.doi.org/10.1002/brb3.70406 | DOI Listing |
Stat Med
March 2025
Vaccine and Infectious Disease and Public Health Sciences Divisions, Fred Hutchinson Cancer Center, Seattle, Washington, USA.
Based on data from a randomized, controlled vaccine efficacy trial, this article develops statistical methods for assessing vaccine efficacy (VE) to prevent COVID-19 infections by a discrete set of genetic strains of SARS-CoV-2. Strain-specific VE adjusting for possibly time-varying covariates is estimated using augmented inverse probability weighting to address missing viral genotypes under a competing risks model that allows separate baseline hazards for different risk groups. Hypothesis tests are developed to assess whether the vaccine provides at least a specified level of VE against some viral genotypes and whether VE varies across genotypes.
View Article and Find Full Text PDFJ Allergy Clin Immunol
March 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn. Electronic address:
Background: The few reported patients with pathogenic IRF8 variants have manifested 2 distinct phenotypes: (1) an autosomal recessive severe immunodeficiency with significant neutrophilia and absence of or significant decrease in monocytes and dendritic cells and (2) a dominant-negative form with only a decrease in conventional type 2 dendritic cells (cDC2s) and susceptibility to mycobacterial disease.
Objectives: Genetic testing of a child with persistent EBV viremia identified a novel IRF8 variant: c.1279dupT (p.
Epileptic Disord
March 2025
Division of Child Neurology, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.
Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.
Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.
J Clin Microbiol
March 2025
Laboratory of Medical Microbiology, Vaccine and Infectious Disease Institute, University of Antwerp, Antwerp, Belgium.
serotype 23B, a non-vaccine serotype, has shown an increasing prevalence and penicillin non-susceptibility among carriage and invasive pneumococcal disease (IPD) isolates. Recently, a novel penicillin non-susceptible genotype has emerged, named 23B1. In the framework of the Belgian pneumococcal carriage study, we studied the prevalence of 23B/23B1 among 586 23B strains (2016-2022) in 172 day care centers from 6- to 30-month-old children and among 130 pediatric 23B IPD isolates (2007-2021).
View Article and Find Full Text PDFPsychol Med
March 2025
Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Background: In major depressive disorder (MDD), only ~35% achieve remission after first-line antidepressant therapy. Using UK Biobank data, we identify sociodemographic, clinical, and genetic predictors of antidepressant response through self-reported outcomes, aiming to inform personalized treatment strategies.
Methods: In UK Biobank Mental Health Questionnaire 2, participants with MDD reported whether specific antidepressants helped them.
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