The future of newborn screening for lysosomal disorders
| Autor: | Melissa P. Wasserstein, Margo Sheck Breilyn, Aaron J. Goldenberg, Joseph J. Orsini, Paul A. Levy, Michael H. Gelb, Michele Caggana |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Early detection Lysosomal storage disorders Disease Detailed data 03 medical and health sciences 0302 clinical medicine Neonatal Screening medicine Screening method Humans Ethics Medical Age of Onset Intensive care medicine Decision Making Organizational Newborn screening business.industry General Neuroscience Incidence Health Plan Implementation Infant Newborn medicine.disease Fabry disease Lysosomal Storage Diseases 030104 developmental biology Treatment Outcome Krabbe disease business 030217 neurology & neurosurgery Forecasting |
| Zdroj: | Neuroscience letters. 760 |
| ISSN: | 1872-7972 |
| Popis: | The goal of newborn screening is to enhance the outcome of individuals with serious, treatable disorders through early, pre-symptomatic detection. The lysosomal storage disorders (LSDs) comprise a group of more than 50 diseases with a combined frequency of approximately 1:7000. With the availability of existing and new enzyme replacement therapies, small molecule treatments and gene therapies, there is increasing interest in screening newborns for LSDs with the goal of reducing disease-related morbidity and mortality through early detection. Novel screening methods are being developed, including efforts to enhance accuracy of screening using an array of multi-tiered, genomic, statistical, and bioinformatic approaches. While NBS data for Gaucher disease, Fabry disease, Krabbe disease, MPS I, and Pompe disease has demonstrated the feasibility of widespread screening, it has also highlighted some of the complexities of screening for LSDs. These include the identification of infants with later-onset, untreatable, and uncertain phenotypes, raising interesting ethical concerns that should be addressed as part of the NBS implementation process. Taken together, these efforts will provide critical, detailed data to help guide objective, ethically sensitive decision-making about NBS for LSDs. |
| Databáze: | OpenAIRE |
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