Supplementary testing after negative or inconclusive exome sequencing results
Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present study aimed at evaluating the usefulness and clinical utilit...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2023-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=95398 |
| _version_ | 1827938638594310144 |
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| author | Balsam AlMaarik Taghrid Aloraini Roselyn Paclejan Mohammed Balwi Lamia Alsubaie Abdulrahman Alswaid Wafaa Eyiad Fuad Al Mutairi Faroug Ababneh Majid Alfadhel Ahmed A. Alfares |
| author_facet | Balsam AlMaarik Taghrid Aloraini Roselyn Paclejan Mohammed Balwi Lamia Alsubaie Abdulrahman Alswaid Wafaa Eyiad Fuad Al Mutairi Faroug Ababneh Majid Alfadhel Ahmed A. Alfares |
| author_sort | Balsam AlMaarik |
| collection | DOAJ |
| description | Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present study aimed at evaluating the usefulness and clinical utility of supplementary testing (deletion/duplication, targeted genome methylation analysis, and whole mitochondrial genome testing) after inconclusive or negative exome results and the outcome of the supplementary testing.
Methods: A total of 3,505 clinical exome sequencing results were evaluated, and cases with supplementary testing were analyzed for the accuracy and validity of the supplementary testing.
Results: The present study cohort comprised 26 cases where supplementary testing was ordered (12 inconclusive results and 14 negative results). Out of the 12 inconclusive results, only one case was positive for supplementary testing (1/12) and none of the negative cases (0/14).
Conclusion: For most cases, supplementary testing to negative exome sequencing failed to identify any possible explanation of the disorder, concluding that supplementary testing has limited clinical utility. [JBCGenetics 2023; 6(1.000): 1-13] |
| first_indexed | 2024-03-13T08:40:50Z |
| format | Article |
| id | doaj.art-2aa7b28133b04d7c89c33bce75dc89be |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:40:50Z |
| publishDate | 2023-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-2aa7b28133b04d7c89c33bce75dc89be2023-05-30T11:51:12ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2023-06-016111310.24911/JBCGenetics/183-165951378595398Supplementary testing after negative or inconclusive exome sequencing resultsBalsam AlMaarik0Taghrid Aloraini1Roselyn Paclejan2Mohammed Balwi3Lamia Alsubaie4Abdulrahman Alswaid5Wafaa Eyiad6Fuad Al Mutairi7Faroug Ababneh8Majid Alfadhel9Ahmed A. AlfaresMolecular Genetic Pathology Unit, Pathology Department, King Saud University, Riyadh, Saudi Arabia, Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia,Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present study aimed at evaluating the usefulness and clinical utility of supplementary testing (deletion/duplication, targeted genome methylation analysis, and whole mitochondrial genome testing) after inconclusive or negative exome results and the outcome of the supplementary testing. Methods: A total of 3,505 clinical exome sequencing results were evaluated, and cases with supplementary testing were analyzed for the accuracy and validity of the supplementary testing. Results: The present study cohort comprised 26 cases where supplementary testing was ordered (12 inconclusive results and 14 negative results). Out of the 12 inconclusive results, only one case was positive for supplementary testing (1/12) and none of the negative cases (0/14). Conclusion: For most cases, supplementary testing to negative exome sequencing failed to identify any possible explanation of the disorder, concluding that supplementary testing has limited clinical utility. [JBCGenetics 2023; 6(1.000): 1-13]http://www.ejmanager.com/fulltextpdf.php?mno=95398exome sequencingdeletion duplicationmethylationmitochondrial genomesaudi arabia |
| spellingShingle | Balsam AlMaarik Taghrid Aloraini Roselyn Paclejan Mohammed Balwi Lamia Alsubaie Abdulrahman Alswaid Wafaa Eyiad Fuad Al Mutairi Faroug Ababneh Majid Alfadhel Ahmed A. Alfares Supplementary testing after negative or inconclusive exome sequencing results Journal of Biochemical and Clinical Genetics exome sequencing deletion duplication methylation mitochondrial genome saudi arabia |
| title | Supplementary testing after negative or inconclusive exome sequencing results |
| title_full | Supplementary testing after negative or inconclusive exome sequencing results |
| title_fullStr | Supplementary testing after negative or inconclusive exome sequencing results |
| title_full_unstemmed | Supplementary testing after negative or inconclusive exome sequencing results |
| title_short | Supplementary testing after negative or inconclusive exome sequencing results |
| title_sort | supplementary testing after negative or inconclusive exome sequencing results |
| topic | exome sequencing deletion duplication methylation mitochondrial genome saudi arabia |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=95398 |
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