Cargando…

Australian parental perceptions of genomic newborn screening for non-communicable diseases

Background: Newborn bloodspot screening (NBS) programs have improved neonatal healthcare since the 1960s. Genomic sequencing now offers potential to generate polygenic risk score (PRS) that could be incorporated into NBS programs, shifting the focus from treatment to prevention of future noncommunic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Casauria, Sarah, Lewis, Sharon, Lynch, Fiona, Saffery, Richard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10330815/ https://www.ncbi.nlm.nih.gov/pubmed/37434950 http://dx.doi.org/10.3389/fgene.2023.1209762

Ejemplares similares

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study
por: Armstrong, Brittan, et al.
Publicado: (2022)

Communicating cystic fibrosis newborn screening results to parents
por: Seddon, L., et al.
Publicado: (2020)

Population-based screening of newborns: Findings from the newborn screening expansion study (part two)
por: Chan, Kee, et al.
Publicado: (2022)

Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward
por: Rahimzadeh, Vasiliki, et al.
Publicado: (2022)

Communicating a Positive Result at Newborn Screening and Parental Distress
por: Lastrucci, Elisa, et al.
Publicado: (2023)

Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population
por: Powell, Sabrina N., et al.
Publicado: (2022)

Hereditary orotic aciduria identified by newborn screening
por: Staretz-Chacham, Orna, et al.
Publicado: (2023)

Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns
por: Xiang, Jiale, et al.
Publicado: (2022)

Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population
por: Yu, Bin, et al.
Publicado: (2018)

Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China
por: Yang, Yuqi, et al.
Publicado: (2019)

Next-Generation Sequencing in Newborn Screening: A Review of Current State
por: Remec, Ziga I., et al.
Publicado: (2021)

Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?
por: Elmonem, Mohamed A., et al.
Publicado: (2021)

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
por: Brower, Amy, et al.
Publicado: (2022)

Placental pseudo-malignancy from a DNA methylation perspective: unanswered questions and future directions
por: Novakovic, Boris, et al.
Publicado: (2013)

Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry
por: Lin, Yiming, et al.
Publicado: (2019)

Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
por: Zhou, Duo, et al.
Publicado: (2022)

A Custom-Made Newborn Screening Test for Wilson’s Disease in Puerto Rico
por: Vicario-Feliciano, Raquel, et al.
Publicado: (2022)

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
por: Giugliani, Roberto, et al.
Publicado: (2022)

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
por: Zeng, Baitao, et al.
Publicado: (2023)

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population
por: Guo, Kejian, et al.
Publicado: (2018)

A Multi-centre Survey of Acceptability of Newborn Screening for Sickle Cell Disease in Nigeria
por: Nnodu, Obiageli E, et al.
Publicado: (2018)

Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing
por: Shum, Bennett O. V., et al.
Publicado: (2023)

Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study
por: Peay, Holly L., et al.
Publicado: (2022)

Principles of Genomic Newborn Screening Programs: A Systematic Review
por: Downie, Lilian, et al.
Publicado: (2021)

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population
por: Li, Xia, et al.
Publicado: (2022)

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions
por: Wilhelm, Kevin, et al.
Publicado: (2022)

Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report
por: Hashimoto, Kazuhiko, et al.
Publicado: (2023)

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design
por: Pichini, Amanda, et al.
Publicado: (2022)

Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study
por: Chudleigh, Jane, et al.
Publicado: (2022)

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations
por: Zhou, Wei, et al.
Publicado: (2019)

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population
por: Zhang, Hong, et al.
Publicado: (2022)

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
por: White, Stephanie, et al.
Publicado: (2023)

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations
por: Wang, Xudong, et al.
Publicado: (2021)

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
por: Ling, Shiying, et al.
Publicado: (2022)

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
por: Chang, Siyu, et al.
Publicado: (2022)

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China
por: Yang, Xiangchun, et al.
Publicado: (2021)

A Final Frontier in Environment-Genome Interactions? Integrated, Multi-Omic Approaches to Predictions of Non-Communicable Disease Risk
por: Noble, Alexandra J., et al.
Publicado: (2022)

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
por: Lin, Yiming, et al.
Publicado: (2019)

New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study
por: Wang, Benjing, et al.
Publicado: (2019)

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
por: Remec, Ziga I., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_5m8s4ltv36475vgj20q7jefdk1