Genes, Journal Year: 2024, Volume and Issue: 15(11), P. 1467 - 1467
Published: Nov. 13, 2024
Genetic newborn screening (NBS) has already entered the phase of common practice in many countries. In Germany, spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID) and sickle cell disease (SCD) are currently a mandatory part NBS. Here, we describe experience six years genetic NBS including prevalence those three diseases Germany.
Language: Английский
International Journal of Neonatal Screening, Journal Year: 2024, Volume and Issue: 10(2), P. 38 - 38
Published: May 23, 2024
Newborn bloodspot screening (NBS) began in the early 1960s based on work of Dr. Robert “Bob” Guthrie Buffalo, NY, USA. His development a test for phenylketonuria blood absorbed onto special filter paper and transported to remote testing laboratory it all. Expansion NBS large numbers asymptomatic congenital conditions flourishes many settings while has not yet been realized others. The need as an efficient effective public health prevention strategy that contributes lowered morbidity mortality wherever is sustained well known medical field but necessarily by political policy makers. Acknowledging value national reports published 2007, authors collaborated create worldwide update 2015. In continuing attempt review progress globally, move towards more harmonized equitable system, we have updated our 2015 report with information available at beginning 2024. Reports sub-Saharan Africa Caribbean, missing 2015, included. Tables popular previous eye comparisons. To emphasize areas needing attention used regional tables containing similar listings screened, laboratories, time which specimen collection recommended. Discussions are limited screening.
Language: Английский
Citations
31
Journal of Inherited Metabolic Disease, Journal Year: 2024, Volume and Issue: 47(5), P. 945 - 970
Published: May 16, 2024
Abstract Genomic newborn screening (gNBS) is on the horizon given decreasing costs of sequencing and advanced understanding impact genetic variants health diseases. Key to ongoing gNBS pilot studies selection target diseases associated genes be included. In this study, we present a comprehensive analysis seven published gene–disease lists from studies, evaluating count, composition, group proportions, ClinGen curations individual disorders. Despite shared criteria, observe substantial variation in total gene count (median 480, range 237–889) disease composition. An intersection was identified for 53 genes, primarily inherited metabolic (83%, 44/53). Each study investigated subset exclusive pairs, number pairs positively correlated with included per study. While most receive “Definitive” or “Strong” classifications, some are labeled as “Refuted” ( n = 5) “Disputed” 28), particularly cardiac Importantly, 17%–48% lack curation. This underscores current absence consensus recommendations criteria resulting diversity proposed their coupling variations use Our findings provide crucial insights into accompanying future program, emphasizing necessity collaboration discussion about harmonization panel ensure screening's objectivity, integrity, broad acceptance.
Language: Английский
Citations
7
International Journal of Neonatal Screening, Journal Year: 2024, Volume and Issue: 10(3), P. 49 - 49
Published: July 15, 2024
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in spinal cord. Recent studies suggest greater effectiveness treatment presymptomatic stage. This systematic review synthesises findings from 37 (and 3 overviews) newborn screening for SMA published up to November 2023 across 17 countries understand methodologies used; test accuracy performance; and timing, logistics feasibility screening. All screened homozygous deletion
Language: Английский
Citations
7
Genes, Journal Year: 2024, Volume and Issue: 15(3), P. 314 - 314
Published: Feb. 28, 2024
In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting implement NBS for new target diseases. Recent developments in innovative testing technology have made possible simultaneously screen severe primary immunodeficiency (PID) and spinal muscular atrophy (SMA) using quantitative real-time polymerase chain reaction (qPCR) assays. We describe our experience optional PID SMA Osaka, Japan. A TaqMan qPCR assay was used program. The able quantify levels T-cell receptor excision circles kappa-deleting recombination circles, which useful combined B-cell deficiency screening, detect homozygous deletion SMN1 exon 7, SMA. total, 105,419 newborns were eligible program between 1 August 2020 31 2023. case each X-linked agammaglobulinemia diagnosed through treated at early stages (before symptoms appeared). Our results show how PCR-based benefit large-scale implementation projects
Language: Английский
Citations
5
European Journal of Paediatric Neurology, Journal Year: 2025, Volume and Issue: 56, P. 84 - 96
Published: April 24, 2025
Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic enabling early identification affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow will probably be extended further the future. However, implementing disease subject various preconditions maximize benefit children, while avoiding harm screened healthy cohort, their families society. Ideally, data on clinical long-term treatment collected prior implementation through observational studies registries. In addition, should implemented an iteratively evaluated public health collection accompanied intra-operable studies, ideally international cooperations. this review, current expertise NBS, strategies possible benefits are presented discussed several including propionic acidemia isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B12) deficiency, urea cycle disorders, tetrahydrobiopterin (BH4) primary neurotransmitter well lysosomal storage disorders. Given these prerequisites, diseases here might part future programs worldwide.
Language: Английский
Citations
0
Transfusion Medicine and Hemotherapy, Journal Year: 2024, Volume and Issue: 51(5), P. 332 - 344
Published: Aug. 6, 2024
Background: Sickle cell disease (SCD) is among the most frequent hereditary disorders globally and its prevalence in Europe increasing due to migration movements. Summary: The basic pathophysiological event of SCD polymerization deoxygenated sickle hemoglobin, resulting hemolysis, vasoocclusion, multiorgan damage. While cascade offers numerous targets for treatment, currently only two disease-modifying drugs have been approved transfusion remains a mainstay both preventing treating severe complications SCD. Allogeneic stem transplantation gene therapy offer curative option but are restricted few patients costs limited availability donors. Key Message: Further efforts needed grant access treatments, explore drug combinations establish new treatment options.
Language: Английский
Citations
3
International Journal of Neonatal Screening, Journal Year: 2024, Volume and Issue: 10(3), P. 50 - 50
Published: July 16, 2024
Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of
Language: Английский
Citations
2
International Journal of Neonatal Screening, Journal Year: 2024, Volume and Issue: 10(3), P. 62 - 62
Published: Sept. 13, 2024
Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for are still based Wilson Jungner (WJ) criteria published in 1968. Despite this uniform reference, interpretation WJ actual highly variable. A systematic literature search [PubMED "Wilson" AND "Jungner"; last 16.07.22] was performed to evaluate applicability current future need adaptation. By at least two reviewers, 105 publications (systematic search, N = 77; manual 28) were screened relevant content and, finally, 38 evaluated. Limited study design qualitative text analysis, no statistical evaluation performed, but a structured collection reported aspects criticism proposed improvements instead collated. This revealed set general limitations criteria, such as imprecise terminology, lack measurability objectivity, missing pediatric focus, absent guidance program management. Furthermore, it unraveled specific clinical, diagnostic, therapeutic, economical aspects. major obstacle found be incompletely understood natural history phenotypic diversity rare diseases prior implementation, resulting uncertainty about case definition, risk stratification, indications treatment. gap could closed through real-world evidence quality, safety, (cost-)effectiveness NBS, well long-term benefits experienced individuals. An integrated public health that designed continuously learn would fulfil these requirements, multi-dimensional framework integrating medical, ethical, legal, societal perspectives overdue.
Language: Английский
Citations
2
Klinische Pädiatrie, Journal Year: 2023, Volume and Issue: 235(06), P. 366 - 372
Published: Sept. 25, 2023
Sickle cell disease (SCD) is a group of hemoglobinopathies with common point mutation causing the production sickle hemoglobin (HbS). In high-throughput newborn screening (NBS) for SCD, two-step procedure suitable, in which qPCR first pre-selects relevant samples that are differentiated by second method.Three NBS centers using qPCR-based primary SCD performed laboratory comparison. Methods tandem MS or HPLC were used differentiation.In benchmarking test, 450 dried blood analyzed. Samples containing HbS detected as reliably methods established hemoglobinopathy testing. approach, 2nd-tier-analyses have to distinguish carrier status from pathological variants. nine months regular screening, total 353,219 analyzed two-stage procedures. The 1st-tier reduced number subsequent differentiation by>99.5%. Cases other variants identified inconspicuous while 78 cases revealed. derived incidence 1:4,773, good agreement previously published incidences.In suitable focus 2nd-tier analyses on HbS, being unaffected factors such prematurity transfusions. substantial reduction numbers positively impacts resource conservation, sustainability, and cost-effectiveness. No false negative came attention.Die Sichelzellkrankheit bezeichnet eine Gruppe von Hämoglobinopathien mit einer gemeinsamen Punktmutation, die zur Bildung Sichelzell-Hämoglobin (HbS) führt. Für das Hochdurchsatz-Neugeborenenscreening (NGS) auf bietet sich ein zweistufiges Verfahren an, dem HbS-haltige Proben vorselektiert, zweiten Methode differenziert werden.Drei NGS-Zentren, denen qPCR-basiertes Primärscreening durchgeführt wird, haben einem Laborvergleich unterzogen. Zur Differenzierung wurden Tandem-MS oder genutzt.In Trockenblutproben ebenso zuverlässig erkannt, wie Methoden Untersuchung etabliert sind. Der Fokus der Folgeanalytik liegt beim zweistufigen Screening somit Unterscheidung zwischen Trägerstatus und pathologischen Varianten. neun Monaten Regelscreening insgesamt 353.219 untersucht, wobei 1st-tier-NGS mittels Probenzahl für um>99,5% reduzierte. Fälle andere Varianten als unauffällig erkannt diagnostiziert. Die abgeleitete Inzidenz 1:4.773, stimmt gut bislang publizierten Inzidenzen überein.Im Hochdurchsatz-NGS ist geeignet, um zu fokussieren, enthalten dabei Störkonstellationen Frühgeburtlichkeit Transfusionen unbeeinflusst sein. erhebliche Reduzierung wirkt positiv Ressourcenschonung, Nachhaltigkeit Wirtschaftlichkeit aus. Falsch Befunde sind nicht bekannt geworden.
Language: Английский
Citations
6
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, Journal Year: 2023, Volume and Issue: 66(11), P. 1249 - 1258
Published: Oct. 10, 2023
Zusammenfassung Das Neugeborenenscreening (NGS) ist ein hoch erfolgreiches Programm der Sekundärprävention mit dem Ziel, schwere Folgeschäden von angeborenen, meist genetisch bedingten Erkrankungen durch möglichst frühe präsymptomatische Identifizierung zu verhindern. Bisherige Studien zeigen wichtige Errungenschaften NGS-Programmen, decken aber auch eine Reihe relevanten Schwächen auf. Dazu gehören zumeist unvollständig verstandene natürliche Verlauf und die phänotypische Vielfalt seltener Krankheiten sowie unzureichende Möglichkeit einer präzisen, frühen Vorhersage des individuellen Krankheitsschweregrads damit Unsicherheiten bei Falldefinition, Risikostratifizierung Behandlungsindikation. Vor Hintergrund rasanten Entwicklungen in den genetischen Hochdurchsatztechnologien verbundenen Möglichkeiten zukünftigen erheblichen Ausweitung NGS-Programme erscheint es überfällig, strukturierte Langzeitbeobachtung hierauf basierende Evaluation langzeitlichen Gesundheitsnutzens für im NGS identifizierten Menschen seltenen obligatorisch NGS-Programm verankern. Der vorliegende Beitrag erläutert Bedeutung kontinuierliche Optimierung NGS. Klinische Langzeitverläufe angeborenen Stoffwechselkrankheiten werden beispielhaft dargestellt.
Citations
4