Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public's perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public's views and preferences to inform the delivery of a gNBS program in the Australian context.
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http://dx.doi.org/10.3390/ijns10010006 | DOI Listing |
Eur J Pediatr
January 2025
Division of Policy Evaluation, Department of Health Policy, Research Institute, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.
Purpose: This systematic review analyzes economic evaluations of newborn screening for congenital cytomegalovirus (cCMV) infection to identify key factors influencing cost-effectiveness and differences in methodological approaches.
Methods: Following a pre-registered PROSPERO protocol (CRD42023441587), we conducted a comprehensive literature search across multiple databases on July 4, 2024. The review included both full economic evaluations (cost and outcomes) and partial economic evaluations (cost only).
J Neurosci
January 2025
Fujian Key Laboratory for Translational Research in Cancer and Neurodegenerative Diseases, Institute for Translational Medicine, School of Basic Medical Sciences, Fujian Medical University, Fuzhou, China, 350122.
The development of the nervous system is a complex process, with many challenging scientific questions yet to be resolved. Disruptions in brain development are strongly associated with neurodevelopmental disorders, such as intellectual disability and autism. While the genetic basis of autism is well established, the precise pathological mechanisms remain unclear.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Medical Genetics and Prenatal Diagnosis, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu 221009, China.
Objective: To explore the results of four types of Urea cycle disorders (UCDs) in newborns from the Xuzhou region, assess the efficacy of newborn screening by tandem mass spectrometry (MS/MS), and analyze their genetic characteristics.
Methods: A retrospective analysis was performed using tandem mass spectrometry to screen for inherited metabolic disorders in 691 712 newborns at the Maternal and Child Health Care Hospital of Xuzhou from November 2015 to December 2023. Ten children (cases 1-10) were diagnosed with Ornithine transcarbamylase deficiency (OTCD), Carbamoylphosphate synthase 1 deficiency (CPS1D), Arginase deficiency (ARGD), and Argininosuccinate synthase deficiency (ASSD) based on MS/MS and genetic testing.
Pediatr Pulmonol
January 2025
Department of Internal Medicine, Division of Pulmonary and Critical Care, University of Virginia, Charlottesville, Virginia, USA.
Introduction: While the diagnosis of cystic fibrosis (CF) is often straightforward and reliant on correlation between genetic testing and clinical signs and symptoms, there is a subset where the distinction is not nearly as clearcut. This has previously been reported in patients identified through newborn screening but not meeting full CF diagnostic criteria, earning the label of CF Screen Positive, Inconclusive Diagnosis (CFSPID) instead. A homologous diagnostic category in adults is named CF Transmembrane Conductance Regulator-Related Disorder (CFTR-RD).
View Article and Find Full Text PDFFront Oncol
December 2024
Department of Public Health, School of Public Health, Debre Berhan University, Debre Berhan, Ethiopia.
Background: Breast cancer poses a significant health burden in Ghana and globally, being the primary cause of cancer-related illness and death among women. The World Health Organization has identified clinical breast examination as the gold standard for women in low and middle-income countries. However, the uptake of clinical breast examination remains low in these settings, including Ghana, where the nationwide prevalence and associated factors of this practice have not been determined.
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