A call for increased inclusivity and global representation in pharmacogenetic testing
Abstract Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel i...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-02-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-024-00403-1 |
| _version_ | 1797273764545691648 |
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| author | April Kennedy Gabriel Ma Roozbeh Manshaei Rebekah K. Jobling Raymond H. Kim Tamorah Lewis Iris Cohn |
| author_facet | April Kennedy Gabriel Ma Roozbeh Manshaei Rebekah K. Jobling Raymond H. Kim Tamorah Lewis Iris Cohn |
| author_sort | April Kennedy |
| collection | DOAJ |
| description | Abstract Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified rare variants that altered the interpretation of metabolizer status and would thus prevent potential errors in gene-based dosing. |
| first_indexed | 2024-03-07T14:48:52Z |
| format | Article |
| id | doaj.art-aaedf7883bab4a64ba5a88e64832dc39 |
| institution | Directory Open Access Journal |
| issn | 2056-7944 |
| language | English |
| last_indexed | 2024-03-07T14:48:52Z |
| publishDate | 2024-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj.art-aaedf7883bab4a64ba5a88e64832dc392024-03-05T19:50:09ZengNature Portfolionpj Genomic Medicine2056-79442024-02-01911410.1038/s41525-024-00403-1A call for increased inclusivity and global representation in pharmacogenetic testingApril Kennedy0Gabriel Ma1Roozbeh Manshaei2Rebekah K. Jobling3Raymond H. Kim4Tamorah Lewis5Iris Cohn6Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of TorontoUniversity of TorontoCardiac Genome Clinic, Ted Rogers Centre for Heart Research, The Hospital for Sick ChildrenCardiac Genome Clinic, Ted Rogers Centre for Heart Research, The Hospital for Sick ChildrenCardiac Genome Clinic, Ted Rogers Centre for Heart Research, The Hospital for Sick ChildrenDivision of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of TorontoDivision of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of TorontoAbstract Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified rare variants that altered the interpretation of metabolizer status and would thus prevent potential errors in gene-based dosing.https://doi.org/10.1038/s41525-024-00403-1 |
| spellingShingle | April Kennedy Gabriel Ma Roozbeh Manshaei Rebekah K. Jobling Raymond H. Kim Tamorah Lewis Iris Cohn A call for increased inclusivity and global representation in pharmacogenetic testing npj Genomic Medicine |
| title | A call for increased inclusivity and global representation in pharmacogenetic testing |
| title_full | A call for increased inclusivity and global representation in pharmacogenetic testing |
| title_fullStr | A call for increased inclusivity and global representation in pharmacogenetic testing |
| title_full_unstemmed | A call for increased inclusivity and global representation in pharmacogenetic testing |
| title_short | A call for increased inclusivity and global representation in pharmacogenetic testing |
| title_sort | call for increased inclusivity and global representation in pharmacogenetic testing |
| url | https://doi.org/10.1038/s41525-024-00403-1 |
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