Translating Molecular Technologies into Routine Newborn Screening Practice
As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-10-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/6/4/80 |
| _version_ | 1797550882640887808 |
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| author | Sarah M. Furnier Maureen S. Durkin Mei W. Baker |
| author_facet | Sarah M. Furnier Maureen S. Durkin Mei W. Baker |
| author_sort | Sarah M. Furnier |
| collection | DOAJ |
| description | As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience and what has been reported in the literature, we describe current practices regarding the applications of molecular technologies in routine NBS practice in the era of genomic and precision medicine. |
| first_indexed | 2024-03-10T15:35:49Z |
| format | Article |
| id | doaj.art-b8e35be4fbb546a184c168ee01159819 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T15:35:49Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-b8e35be4fbb546a184c168ee011598192023-11-20T17:14:34ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-10-01648010.3390/ijns6040080Translating Molecular Technologies into Routine Newborn Screening PracticeSarah M. Furnier0Maureen S. Durkin1Mei W. Baker2Department of Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USADepartment of Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USADepartment of Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USAAs biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience and what has been reported in the literature, we describe current practices regarding the applications of molecular technologies in routine NBS practice in the era of genomic and precision medicine.https://www.mdpi.com/2409-515X/6/4/80newborn screeningnext generation sequencingdroplet digital polymerase chain reactionreal-time polymerase chain reactionTetra-primer amplification refractory mutation system–polymerase chain reactionsevere combined immunodeficiency |
| spellingShingle | Sarah M. Furnier Maureen S. Durkin Mei W. Baker Translating Molecular Technologies into Routine Newborn Screening Practice International Journal of Neonatal Screening newborn screening next generation sequencing droplet digital polymerase chain reaction real-time polymerase chain reaction Tetra-primer amplification refractory mutation system–polymerase chain reaction severe combined immunodeficiency |
| title | Translating Molecular Technologies into Routine Newborn Screening Practice |
| title_full | Translating Molecular Technologies into Routine Newborn Screening Practice |
| title_fullStr | Translating Molecular Technologies into Routine Newborn Screening Practice |
| title_full_unstemmed | Translating Molecular Technologies into Routine Newborn Screening Practice |
| title_short | Translating Molecular Technologies into Routine Newborn Screening Practice |
| title_sort | translating molecular technologies into routine newborn screening practice |
| topic | newborn screening next generation sequencing droplet digital polymerase chain reaction real-time polymerase chain reaction Tetra-primer amplification refractory mutation system–polymerase chain reaction severe combined immunodeficiency |
| url | https://www.mdpi.com/2409-515X/6/4/80 |
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