Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing i...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-07-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/7/3/50 |
| _version_ | 1829452371615285248 |
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| author | Allan Meldgaard Lund Flemming Wibrand Kristin Skogstrand Marie Bækvad-Hansen Niels Gregersen Brage Storstein Andresen David M. Hougaard Morten Dunø Rikke Katrine Jentoft Olsen |
| author_facet | Allan Meldgaard Lund Flemming Wibrand Kristin Skogstrand Marie Bækvad-Hansen Niels Gregersen Brage Storstein Andresen David M. Hougaard Morten Dunø Rikke Katrine Jentoft Olsen |
| author_sort | Allan Meldgaard Lund |
| collection | DOAJ |
| description | Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme. |
| first_indexed | 2024-03-10T07:35:17Z |
| format | Article |
| id | doaj.art-e2d3d02166b1482183928729f9ccf7df |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T07:35:17Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-e2d3d02166b1482183928729f9ccf7df2023-11-22T13:34:01ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-07-01735010.3390/ijns7030050Use of Molecular Genetic Analyses in Danish Routine Newborn ScreeningAllan Meldgaard Lund0Flemming Wibrand1Kristin Skogstrand2Marie Bækvad-Hansen3Niels Gregersen4Brage Storstein Andresen5David M. Hougaard6Morten Dunø7Rikke Katrine Jentoft Olsen8Center for Inherited Metabolic Disorders, Departments of Clinical Genetics and Pediatrics, Copenhagen University Hospital, 2100 Copenhagen, DenmarkMetabolic Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, 2100 Copenhagen, DenmarkCenter for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institute, 2300 Copenhagen, DenmarkCenter for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institute, 2300 Copenhagen, DenmarkResearch Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, 8200 Aarhus, DenmarkDepartment of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense, DenmarkCenter for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institute, 2300 Copenhagen, DenmarkMolecular Genetics Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, 2100 Copenhagen, DenmarkResearch Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, 8200 Aarhus, DenmarkHistorically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme.https://www.mdpi.com/2409-515X/7/3/50next generation sequencingnewborn screeningneonatal screeningfirst-tier testsecond-tier testtandem mass spectrometry |
| spellingShingle | Allan Meldgaard Lund Flemming Wibrand Kristin Skogstrand Marie Bækvad-Hansen Niels Gregersen Brage Storstein Andresen David M. Hougaard Morten Dunø Rikke Katrine Jentoft Olsen Use of Molecular Genetic Analyses in Danish Routine Newborn Screening International Journal of Neonatal Screening next generation sequencing newborn screening neonatal screening first-tier test second-tier test tandem mass spectrometry |
| title | Use of Molecular Genetic Analyses in Danish Routine Newborn Screening |
| title_full | Use of Molecular Genetic Analyses in Danish Routine Newborn Screening |
| title_fullStr | Use of Molecular Genetic Analyses in Danish Routine Newborn Screening |
| title_full_unstemmed | Use of Molecular Genetic Analyses in Danish Routine Newborn Screening |
| title_short | Use of Molecular Genetic Analyses in Danish Routine Newborn Screening |
| title_sort | use of molecular genetic analyses in danish routine newborn screening |
| topic | next generation sequencing newborn screening neonatal screening first-tier test second-tier test tandem mass spectrometry |
| url | https://www.mdpi.com/2409-515X/7/3/50 |
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