☆ 3.8 Review

The Progress and Future of US Newborn Screening

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

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Article Genetics & Heredity

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

David T. Miller et al.

GENETICS IN MEDICINE (2021)

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Article Health Care Sciences & Services

US Public Health Neglected: Flat Or Declining Spending Left States Ill Equipped To Respond To COVID-19

Y. Natalia Alfonso et al.

Summary: The study analyzed state spending trends in eight categories of public health activities from 2008 to 2018 and found that, except for injury prevention, there was no substantial growth in state governmental public health spending. Cuts experienced during the Great Recession left states ill equipped to respond to COVID-19 and other emerging health needs.

HEALTH AFFAIRS (2021)

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Article Medicine, General & Internal

Expert Evaluation of Strategies to Modernize Newborn Screening in the United States

Donald B. Bailey et al.

Summary: This study highlights the need for significant changes in the NBS system to prepare for the rapid expansion of novel therapies. Experts agreed that modernization of NBS will require integration of highly rated solutions, strategic planning, and coordination among multiple stakeholders.

JAMA NETWORK OPEN (2021)

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Article Multidisciplinary Sciences

Towards complete and error-free genome assemblies of all vertebrate species

Arang Rhie et al.

Summary: The Vertebrate Genome Project and the international Genome 10K consortium have collaborated to generate high-quality genome assemblies for 16 species representing six major vertebrate lineages, leading to new biological discoveries. Long-read sequencing technologies are essential for maximizing genome quality, and addressing complex repeats and haplotype heterozygosity are crucial for reducing assembly errors and improving completeness of reference genomes. The lessons learned from this project have paved the way for the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all known vertebrate species.

NATURE (2021)

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Article Genetics & Heredity

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

Daniela M. DeCristo et al.

Summary: Commercial neonatal genomic screening panels have heterogeneous content and may contain some conditions with lower actionability than would be expected for public health newborn screening; conversely, some conditions with higher actionability may be omitted from these panels.

GENOME MEDICINE (2021)

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Correction Genetics & Heredity

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (Aug, 2021, 10.1038/s41436-021-01172-3)

David T. Miller et al.

GENETICS IN MEDICINE (2021)

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Article Medicine, General & Internal

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

Ning Liu et al.

Summary: The study compared the diagnostic rates of traditional metabolic screening and clinical metabolomics, finding that clinical metabolomics had a higher diagnostic rate and could identify a wider variety of inborn errors of metabolism.

JAMA NETWORK OPEN (2021)

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Article Genetics & Heredity

Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption

Richard B. Parad et al.

Summary: Duchenne muscular dystrophy (DMD) is not currently included in mandatory newborn screening, but a unique hospital-based program offering optional supplemental screening has shown promise in early diagnosis and treatment to prevent adverse outcomes. The use of a two-tiered approach combining creatine kinase (CK) enzyme assay with rapid targeted next-generation sequencing (tNGS) for the DMD gene has allowed for the identification of mutations and deletion/duplication events, improving access to treatment and reducing healthcare disparities. Through this screening algorithm, over 1500 newborns have been screened, showing a high uptake rate, and may serve as a model for further expansion to establish universal public health screening programs.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Review Genetics & Heredity

The First Treatment for PKU: The Pioneers-Birmingham 1951

Anne Green

Summary: Prior to the introduction of newborn screening, Phenylketonuria (PKU) was a devastating disorder that required affected individuals to live in large institutions for care. After it was shown that those with PKU could be treated with a modified diet and lead normal lives, newborn screening began. The first production of an effective diet and demonstration of its effectiveness in Birmingham in 1951 marked a key milestone in the history of PKU and newborn screening.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Article Pediatrics

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

Clifford Ronald Scott et al.

JOURNAL OF PEDIATRICS (2020)

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Article Pediatrics

Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need

Susan A. Berry et al.

PEDIATRICS (2020)

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Article Multidisciplinary Sciences

A structural variation reference for medical and population genetics

Ryan L. Collins et al.

NATURE (2020)

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Article Biochemistry & Molecular Biology

The role of exome sequencing in newborn screening for inborn errors of metabolism

Aashish N. Adhikari et al.

NATURE MEDICINE (2020)

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Article Genetics & Heredity

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns

Patricia L. Hall et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

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Article Medicine, General & Internal

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

Stacey Lee et al.

JAMA NETWORK OPEN (2020)

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Article Genetics & Heredity

Including ELSI research questions in newborn screening pilot studies

Aaron J. Goldenberg et al.

GENETICS IN MEDICINE (2019)

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Article Genetics & Heredity

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa P. Wasserstein et al.

GENETICS IN MEDICINE (2019)

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Article Genetics & Heredity

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

A. Eliot Shearer et al.

GENETICS IN MEDICINE (2019)

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Review Genetics & Heredity

Foundation of the Newborn Screening Translational Research Network and its tools for research

Michele Lloyd-Puryear et al.

GENETICS IN MEDICINE (2019)

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Article Public, Environmental & Occupational Health

Inequities in newborn screening: Race and the role of medicaid

Heeju Sohn et al.

SSM-POPULATION HEALTH (2019)

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Article Genetics & Heredity

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Jennifer N. Kraszewski et al.

GENETICS IN MEDICINE (2018)

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Article Pediatrics

The BabySeq project: implementing genomic sequencing in newborns

Ingrid A. Holm et al.

BMC PEDIATRICS (2018)

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Review Genetics & Heredity

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

Michele A. Lloyd-Puryear et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2018)

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Article Genetics & Heredity

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia et al.

GENETICS IN MEDICINE (2017)

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Article Pediatrics

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg et al.

PEDIATRICS (2017)

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Article Medicine, General & Internal

ClinGen - The Clinical Genome Resource

Heidi L. Rehm et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

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Article Medicine, General & Internal

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Antonia Kwan et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

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Editorial Material Genetics & Heredity

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children

Ned Calonge et al.

GENETICS IN MEDICINE (2010)

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Article Pediatrics

Newborn screening for Pompe disease: Synthesis of the evidence and development of screening recommendations

Alex R. Kemper et al.

PEDIATRICS (2007)

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Article Pediatrics

Financing state newborn screening programs: Sources and uses of funds

K Johnson et al.

PEDIATRICS (2006)

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Article Allergy

Development of population-based newborn screening for severe combined immunodeficiency

K Chan et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2005)

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