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The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre
Background: Genetic testing panels are used to identify the most common genetic causes of dyslipidemia, and the results of these panels can guide treatment and management. The objective of this quality improvement project was to assess the appropriateness of genetic testing panels requested by the M...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090619/ http://dx.doi.org/10.1210/jendso/bvab048.1046 |
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author | Pasqua, Melissa-Rosina Pare, Aurelie Blank, David Gilfix, Brian |
author_facet | Pasqua, Melissa-Rosina Pare, Aurelie Blank, David Gilfix, Brian |
author_sort | Pasqua, Melissa-Rosina |
collection | PubMed |
description | Background: Genetic testing panels are used to identify the most common genetic causes of dyslipidemia, and the results of these panels can guide treatment and management. The objective of this quality improvement project was to assess the appropriateness of genetic testing panels requested by the McGill University Health Centre (MUHC). Methods: Genetic testing panels sent for analysis from January 2018 to December 2019 were identified. Ordering physician specialty, patient personal and family medical history, lipid panel results, and genetic testing results were collected. Then, validated Familial Hyperlipidemia (FH) scores (Simon-Broome Registry Criteria, Dutch Lipid Clinic Network Criteria, FH Canada criteria) were calculated for patients who underwent genetic testing for suspected FH. Results: There were 36 genetic test panels sent out for analysis during the study period, of which 24 were accessible for data analysis. Pathogenic mutations were identified in 7/24 (29%) of the analyzed panels. The 19/24 (79%) of the panels were requested by lipid specialists, and all of the panels positive for pathogenic mutations were requested by lipid specialists. Interestingly, 23/24 (94%) of the patients met the Canadian criteria for at least considering genetic testing, suggesting that most panels were appropriately requested. Only 3/24 (12%) of patients had insufficient criteria for FH by the Simon-Broome criteria, but all of these carried pathogenic mutations. Conclusion: These results suggest that at the MUHC, using the Canadian criteria identifies a greater number of patients for genetic testing and for appropriate diagnosis and treatment. |
format | Online Article Text |
id | pubmed-8090619 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-80906192021-05-05 The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre Pasqua, Melissa-Rosina Pare, Aurelie Blank, David Gilfix, Brian J Endocr Soc Genetics and Development (including Gene Regulation) Background: Genetic testing panels are used to identify the most common genetic causes of dyslipidemia, and the results of these panels can guide treatment and management. The objective of this quality improvement project was to assess the appropriateness of genetic testing panels requested by the McGill University Health Centre (MUHC). Methods: Genetic testing panels sent for analysis from January 2018 to December 2019 were identified. Ordering physician specialty, patient personal and family medical history, lipid panel results, and genetic testing results were collected. Then, validated Familial Hyperlipidemia (FH) scores (Simon-Broome Registry Criteria, Dutch Lipid Clinic Network Criteria, FH Canada criteria) were calculated for patients who underwent genetic testing for suspected FH. Results: There were 36 genetic test panels sent out for analysis during the study period, of which 24 were accessible for data analysis. Pathogenic mutations were identified in 7/24 (29%) of the analyzed panels. The 19/24 (79%) of the panels were requested by lipid specialists, and all of the panels positive for pathogenic mutations were requested by lipid specialists. Interestingly, 23/24 (94%) of the patients met the Canadian criteria for at least considering genetic testing, suggesting that most panels were appropriately requested. Only 3/24 (12%) of patients had insufficient criteria for FH by the Simon-Broome criteria, but all of these carried pathogenic mutations. Conclusion: These results suggest that at the MUHC, using the Canadian criteria identifies a greater number of patients for genetic testing and for appropriate diagnosis and treatment. Oxford University Press 2021-05-03 /pmc/articles/PMC8090619/ http://dx.doi.org/10.1210/jendso/bvab048.1046 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Genetics and Development (including Gene Regulation) Pasqua, Melissa-Rosina Pare, Aurelie Blank, David Gilfix, Brian The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre |
title | The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre |
title_full | The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre |
title_fullStr | The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre |
title_full_unstemmed | The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre |
title_short | The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre |
title_sort | use of genetic testing panels for dyslipidemia: a quality improvement project at the mcgill university health centre |
topic | Genetics and Development (including Gene Regulation) |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090619/ http://dx.doi.org/10.1210/jendso/bvab048.1046 |
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