The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome
Jatinder Singh, Paramala Santosh · 2024
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Description
Jatinder Singh and Paramala Santosh argue a case about newborn screening and Rett syndrome in this 2024 opinion piece. Rett syndrome is a rare disorder of brain development in children. A new English study plans to sequence the whole genome of newborns to find rare diseases early. Its list covers hundreds of genes, picked by four tests of value. A condition must be reliably detectable and serious if missed. Early testing must also help, and care must reach all families.
Rett syndrome was not put on that study's list. The authors revisit the choice and lay out the challenges it raises. They ask whether genome screening can serve children with this condition fairly. The piece is expert opinion, not new trial data. It aims to shape how screening lists are drawn. Families and doctors for rare diseases are its main audience.
Catalog record
| CREATOR | Jatinder Singh, Paramala Santosh |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |