Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hope
Some state-based newborn screening programs in the United States already use sequencing technology, as a secondary screening test for individual conditions rather than as a broad screening tool. Newborn screening programs sequence an individual gene, such as the cystic fibrosis transmembrane conduct...
| Main Author: | |
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| Format: | Electronic Article |
| Language: | English |
| Check availability: | HBZ Gateway |
| Interlibrary Loan: | Interlibrary Loan for the Fachinformationsdienste (Specialized Information Services in Germany) |
| Published: |
2018
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| In: |
The Hastings Center report
Year: 2018, Volume: 48, Pages: 37-38 |
| Online Access: |
Volltext (kostenfrei) Volltext (kostenfrei) |
| Summary: | Some state-based newborn screening programs in the United States already use sequencing technology, as a secondary screening test for individual conditions rather than as a broad screening tool. Newborn screening programs sequence an individual gene, such as the cystic fibrosis transmembrane conductance regulator, which causes cystic fibrosis, after an initial biochemical test suggests that a baby might have a condition related to that gene. The experiences of state public health departments with individual-gene sequencing illustrate both the usefulness of the technology and its complexities. Here I discuss how newborn screening programs investigate cystic fibrosis and, as another example, adrenoleukodystrophy through individual gene sequencing. |
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| ISSN: | 1552-146X |
| Contains: | Enthalten in: Hastings Center, The Hastings Center report
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| Persistent identifiers: | DOI: 10.1002/hast.883 |
