Newborn Genomic Sequencing Needs Confirmation but Not Repeating
Newborn screening (NBS) has been one of the big innovations in public health. It has grown over the decades, especially with the introduction of tandem mass spectrometry. However, it is likely to expand significantly in the coming decades with the introduction of genomic testing. Traditionally, in N...
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MDPI AG
2024-10-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/11/11/1287 |
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| author | Bruce Bennetts Gladys Ho Sarah Shin Pak Leng Cheong Tiffany Wotton Enzo Ranieri Shelley Pirreca |
| author_facet | Bruce Bennetts Gladys Ho Sarah Shin Pak Leng Cheong Tiffany Wotton Enzo Ranieri Shelley Pirreca |
| author_sort | Bruce Bennetts |
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| description | Newborn screening (NBS) has been one of the big innovations in public health. It has grown over the decades, especially with the introduction of tandem mass spectrometry. However, it is likely to expand significantly in the coming decades with the introduction of genomic testing. Traditionally, in NBS, there has been a pattern of repeat testing for confirmation and follow-up diagnostic testing. This follow-up is critical as NBS is a screening program. This pathway is appropriate for low-cost tests, but if public health authorities are going to invest in high-cost screening such as whole-genome sequencing, they are likely to baulk at repeating these expensive tests in a diagnostic setting. Our study investigates whether screening-grade data from NBS can be transitioned into diagnostic-grade data using a panel of single-nucleotide variants (SNVs) on a diagnostic specimen. These SNVs could be used to link the diagnostic specimen with all of the provenance requirements associated with routine pathology and the NBS genomic data. This strategy has large cost benefits and opens up the rapid use of NBS genomic data should a child present in an acute care setting and a genetic diagnosis is suspected. This approach will greatly speed up the confirmation of positive NBS results and reduce family anxiety due to delayed diagnostic testing. |
| format | Article |
| id | doaj-art-c62d59b9475d466eaacce88b9e6ea0dd |
| institution | OA Journals |
| issn | 2227-9067 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | MDPI AG |
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| series | Children |
| spelling | doaj-art-c62d59b9475d466eaacce88b9e6ea0dd2025-08-20T02:07:59ZengMDPI AGChildren2227-90672024-10-011111128710.3390/children11111287Newborn Genomic Sequencing Needs Confirmation but Not RepeatingBruce Bennetts0Gladys Ho1Sarah Shin2Pak Leng Cheong3Tiffany Wotton4Enzo Ranieri5Shelley Pirreca6Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children’s Hospitals Network, Westmead, NSW 2145, AustraliaSydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children’s Hospitals Network, Westmead, NSW 2145, AustraliaSydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children’s Hospitals Network, Westmead, NSW 2145, AustraliaDepartment of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, NSW 2050, AustraliaNSW Newborn Screening Programme, The Children’s Hospital at Westmead, Westmead, NSW 2145, AustraliaNSW Newborn Screening Programme, The Children’s Hospital at Westmead, Westmead, NSW 2145, AustraliaSydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children’s Hospitals Network, Westmead, NSW 2145, AustraliaNewborn screening (NBS) has been one of the big innovations in public health. It has grown over the decades, especially with the introduction of tandem mass spectrometry. However, it is likely to expand significantly in the coming decades with the introduction of genomic testing. Traditionally, in NBS, there has been a pattern of repeat testing for confirmation and follow-up diagnostic testing. This follow-up is critical as NBS is a screening program. This pathway is appropriate for low-cost tests, but if public health authorities are going to invest in high-cost screening such as whole-genome sequencing, they are likely to baulk at repeating these expensive tests in a diagnostic setting. Our study investigates whether screening-grade data from NBS can be transitioned into diagnostic-grade data using a panel of single-nucleotide variants (SNVs) on a diagnostic specimen. These SNVs could be used to link the diagnostic specimen with all of the provenance requirements associated with routine pathology and the NBS genomic data. This strategy has large cost benefits and opens up the rapid use of NBS genomic data should a child present in an acute care setting and a genetic diagnosis is suspected. This approach will greatly speed up the confirmation of positive NBS results and reduce family anxiety due to delayed diagnostic testing.https://www.mdpi.com/2227-9067/11/11/1287NBSrepeat testingdiagnostic |
| spellingShingle | Bruce Bennetts Gladys Ho Sarah Shin Pak Leng Cheong Tiffany Wotton Enzo Ranieri Shelley Pirreca Newborn Genomic Sequencing Needs Confirmation but Not Repeating Children NBS repeat testing diagnostic |
| title | Newborn Genomic Sequencing Needs Confirmation but Not Repeating |
| title_full | Newborn Genomic Sequencing Needs Confirmation but Not Repeating |
| title_fullStr | Newborn Genomic Sequencing Needs Confirmation but Not Repeating |
| title_full_unstemmed | Newborn Genomic Sequencing Needs Confirmation but Not Repeating |
| title_short | Newborn Genomic Sequencing Needs Confirmation but Not Repeating |
| title_sort | newborn genomic sequencing needs confirmation but not repeating |
| topic | NBS repeat testing diagnostic |
| url | https://www.mdpi.com/2227-9067/11/11/1287 |
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