Workflow for the Implementation of Precision Genomics in Healthcare
To enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome or genome data. In our analytical pipeline, the first tier of filtering is variant-centric, and it is...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2020-06-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2020.00619/full |
| _version_ | 1817989602260025344 |
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| author | Sanja Mehandziska Aleksandra Stajkovska Margarita Stavrevska Kristina Jakovleva Marija Janevska Rodney Rosalia Ivan Kungulovski Zan Mitrev Goran Kungulovski |
| author_facet | Sanja Mehandziska Aleksandra Stajkovska Margarita Stavrevska Kristina Jakovleva Marija Janevska Rodney Rosalia Ivan Kungulovski Zan Mitrev Goran Kungulovski |
| author_sort | Sanja Mehandziska |
| collection | DOAJ |
| description | To enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome or genome data. In our analytical pipeline, the first tier of filtering is variant-centric, and it is based on the selection of annotated pathogenic, protective, risk factor, and drug response variants, and their one-by-one detailed evaluation. This is followed by a second-tier gene-centric deconstruction and filtering of virtual gene lists associated with diseases, and VUS-centric filtering according to ACMG pathogenicity criteria and pre-defined deleteriousness criteria. By applying this filtering protocol, we were able to provide valuable insights regarding the carrier status, pharmacogenetic profile, actionable cardiovascular and cancer predispositions, and potentially pathogenic variants of unknown significance to our patients. Our experience demonstrates that genomic profiling can be implemented into routine healthcare and provide information of medical significance. |
| first_indexed | 2024-04-14T00:48:18Z |
| format | Article |
| id | doaj.art-d3676f7062f444bdb27d0fe8d975225e |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-14T00:48:18Z |
| publishDate | 2020-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d3676f7062f444bdb27d0fe8d975225e2022-12-22T02:21:54ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-06-011110.3389/fgene.2020.00619504737Workflow for the Implementation of Precision Genomics in HealthcareSanja Mehandziska0Aleksandra Stajkovska1Margarita Stavrevska2Kristina Jakovleva3Marija Janevska4Rodney Rosalia5Ivan Kungulovski6Zan Mitrev7Goran Kungulovski8Zan Mitrev Clinic, Skopje, MacedoniaBio Engineering LLC, Skopje, MacedoniaZan Mitrev Clinic, Skopje, MacedoniaZan Mitrev Clinic, Skopje, MacedoniaBio Engineering LLC, Skopje, MacedoniaZan Mitrev Clinic, Skopje, MacedoniaBio Engineering LLC, Skopje, MacedoniaZan Mitrev Clinic, Skopje, MacedoniaBio Engineering LLC, Skopje, MacedoniaTo enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome or genome data. In our analytical pipeline, the first tier of filtering is variant-centric, and it is based on the selection of annotated pathogenic, protective, risk factor, and drug response variants, and their one-by-one detailed evaluation. This is followed by a second-tier gene-centric deconstruction and filtering of virtual gene lists associated with diseases, and VUS-centric filtering according to ACMG pathogenicity criteria and pre-defined deleteriousness criteria. By applying this filtering protocol, we were able to provide valuable insights regarding the carrier status, pharmacogenetic profile, actionable cardiovascular and cancer predispositions, and potentially pathogenic variants of unknown significance to our patients. Our experience demonstrates that genomic profiling can be implemented into routine healthcare and provide information of medical significance.https://www.frontiersin.org/article/10.3389/fgene.2020.00619/fullexomegenomepersonalized medicineprecision genomicsclinical practiceimplementation |
| spellingShingle | Sanja Mehandziska Aleksandra Stajkovska Margarita Stavrevska Kristina Jakovleva Marija Janevska Rodney Rosalia Ivan Kungulovski Zan Mitrev Goran Kungulovski Workflow for the Implementation of Precision Genomics in Healthcare Frontiers in Genetics exome genome personalized medicine precision genomics clinical practice implementation |
| title | Workflow for the Implementation of Precision Genomics in Healthcare |
| title_full | Workflow for the Implementation of Precision Genomics in Healthcare |
| title_fullStr | Workflow for the Implementation of Precision Genomics in Healthcare |
| title_full_unstemmed | Workflow for the Implementation of Precision Genomics in Healthcare |
| title_short | Workflow for the Implementation of Precision Genomics in Healthcare |
| title_sort | workflow for the implementation of precision genomics in healthcare |
| topic | exome genome personalized medicine precision genomics clinical practice implementation |
| url | https://www.frontiersin.org/article/10.3389/fgene.2020.00619/full |
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