Research on how physicians predict and communicate prognosis focuses primarily on end-of-life care. Unsurprisingly, as genomic technology gains traction as a prognostic tool, the focus has also been on terminality, with research focused on how genetic results may be used to terminate pregnancies or redirect care towards palliation for neonates. However, genomic results also have powerful impacts on how patients who live prepare for their futures. Genomic testing provides broad-reaching and early-albeit complex, uncertain, and shifting-prognostic information. In this essay, we argue that as genomic testing occurs earlier and increasingly in a screening context, researchers and clinicians must strive to understand and manage the prognostic implications of results. While our understanding of the psychosocial and communicational aspects of prognosis in symptomatic populations is incomplete, it has progressed further than our understanding in a screening context and therefore provides useful lessons and feasible opportunities for further research. By providing an interdisciplinary and inter-specialty perspective on the psychosocial and communicational aspects of prognosis in genetics, we discuss prognostication with respect to genetics from the neonatal period through adulthood, highlighting medical specialties and patient populations that are especially informative for considering the longitudinal management of prognostic information in genomic medicine.
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http://dx.doi.org/10.3390/children10040664 | DOI Listing |
PLoS One
January 2025
Department of Computing and Mathematics, Manchester Metropolitan University, Manchester, United Kingdom.
Many machine learning techniques have been used to construct gene regulatory networks (GRNs) through precision matrix that considers conditional independence among genes, and finally produces sparse version of GRNs. This construction can be improved using the auxiliary information like gene expression profile of the related species or gene markers. To reach out this goal, we apply a generalized linear model (GLM) in first step and later a penalized maximum likelihood to construct the gene regulatory network using Glasso technique for the residuals of a multi-level multivariate GLM among the gene expressions of one species as a multi-levels response variable and the gene expression of related species as a multivariate covariates.
View Article and Find Full Text PDFEpilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
Int J Audiol
January 2025
Cochlear Center for Hearing and Public Health, Johns Hopkins University, Baltimore, MD, USA.
Objectives: This longitudinal experimental study aimed to profile audiometric hearing loss, explore the feasibility and efficacy of low-cost hearing devices, and examine their social and emotional impact on participants in South Sudan, a low-resource humanitarian setting.
Design: We performed pure tone hearing screenings on adults with self-reported hearing disability, randomly providing eligible participants with one of two inexpensive devices-Asana Pro 800, a non-customizable hearing device fit unilaterally, or the Super Ear SE9000, a hand-held amplifier with headphones given one per individual.
Study Sample: Between October 2022 and January 2023, 142 adults underwent hearing screening at the Juba Teaching Hospital ENT clinic, of whom 19 eligible individuals were provided with hearing devices.
Eur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
View Article and Find Full Text PDFCurr Cancer Drug Targets
January 2025
Amity School of Pharmaceutical Sciences, Amity University, Mohali, Punjab, India.
The current review delves into the transformative role of precision medicine in addressing Colorectal Cancer [CRC], a pressing global health challenge. It examines closely signalling pathways, genetic and epigenetic modifications, and microsatellite in-stability. The primary focus is on elucidating biomarkers revolutionizing CRC diagnosis and treatment.
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