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Secondary findings in a large Pakistani cohort tested with whole genome sequencing

Studies on genomic secondary findings (SFs) are diverse in participants’ characteristics, sequencing methods, and versions of the ACMG SF list. Based on whole genome sequencing and the version 3.1 of the ACMG SF list, we studied SFs in 863 individuals from five different regions in Pakistan. We iden...

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Autores principales: Skrahin, Aliaksandr, Cheema, Huma Arshad, Hussain, Maqbool, Rana, Nuzhat Noureen, Rehman, Khalil Ur, Kumar, Raman, Oprea, Gabriela, Ameziane, Najim, Rolfs, Arndt, Skrahina, Volha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838216/
https://www.ncbi.nlm.nih.gov/pubmed/36635046
http://dx.doi.org/10.26508/lsa.202201673
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author Skrahin, Aliaksandr
Cheema, Huma Arshad
Hussain, Maqbool
Rana, Nuzhat Noureen
Rehman, Khalil Ur
Kumar, Raman
Oprea, Gabriela
Ameziane, Najim
Rolfs, Arndt
Skrahina, Volha
author_facet Skrahin, Aliaksandr
Cheema, Huma Arshad
Hussain, Maqbool
Rana, Nuzhat Noureen
Rehman, Khalil Ur
Kumar, Raman
Oprea, Gabriela
Ameziane, Najim
Rolfs, Arndt
Skrahina, Volha
author_sort Skrahin, Aliaksandr
collection PubMed
description Studies on genomic secondary findings (SFs) are diverse in participants’ characteristics, sequencing methods, and versions of the ACMG SF list. Based on whole genome sequencing and the version 3.1 of the ACMG SF list, we studied SFs in 863 individuals from five different regions in Pakistan. We identified 24 ACMG SFs in 23 (2.7%) of 863 individuals: 18 of 24 were related to cardiovascular disease and four to cancer syndromes. In addition to ACMG SFs, we identified 16 (1.9%) participants with pathogenic and likely pathogenic variants in genes that were not related to the participants’ clinical conditions but with clear medical actionability (non-ACMG SFs): 4 of 16 were related to eye diseases, two to metabolic disorders, and two to urinary system disorders. By testing a large Pakistani cohort with whole genome sequencing, we concluded that in countries such as Pakistan, the ACMG SF list could be expanded, and our non-ACMG SF list is one example.
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spelling pubmed-98382162023-01-14 Secondary findings in a large Pakistani cohort tested with whole genome sequencing Skrahin, Aliaksandr Cheema, Huma Arshad Hussain, Maqbool Rana, Nuzhat Noureen Rehman, Khalil Ur Kumar, Raman Oprea, Gabriela Ameziane, Najim Rolfs, Arndt Skrahina, Volha Life Sci Alliance Research Articles Studies on genomic secondary findings (SFs) are diverse in participants’ characteristics, sequencing methods, and versions of the ACMG SF list. Based on whole genome sequencing and the version 3.1 of the ACMG SF list, we studied SFs in 863 individuals from five different regions in Pakistan. We identified 24 ACMG SFs in 23 (2.7%) of 863 individuals: 18 of 24 were related to cardiovascular disease and four to cancer syndromes. In addition to ACMG SFs, we identified 16 (1.9%) participants with pathogenic and likely pathogenic variants in genes that were not related to the participants’ clinical conditions but with clear medical actionability (non-ACMG SFs): 4 of 16 were related to eye diseases, two to metabolic disorders, and two to urinary system disorders. By testing a large Pakistani cohort with whole genome sequencing, we concluded that in countries such as Pakistan, the ACMG SF list could be expanded, and our non-ACMG SF list is one example. Life Science Alliance LLC 2023-01-12 /pmc/articles/PMC9838216/ /pubmed/36635046 http://dx.doi.org/10.26508/lsa.202201673 Text en © 2023 Skrahin et al. https://creativecommons.org/licenses/by/4.0/This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/).
spellingShingle Research Articles
Skrahin, Aliaksandr
Cheema, Huma Arshad
Hussain, Maqbool
Rana, Nuzhat Noureen
Rehman, Khalil Ur
Kumar, Raman
Oprea, Gabriela
Ameziane, Najim
Rolfs, Arndt
Skrahina, Volha
Secondary findings in a large Pakistani cohort tested with whole genome sequencing
title Secondary findings in a large Pakistani cohort tested with whole genome sequencing
title_full Secondary findings in a large Pakistani cohort tested with whole genome sequencing
title_fullStr Secondary findings in a large Pakistani cohort tested with whole genome sequencing
title_full_unstemmed Secondary findings in a large Pakistani cohort tested with whole genome sequencing
title_short Secondary findings in a large Pakistani cohort tested with whole genome sequencing
title_sort secondary findings in a large pakistani cohort tested with whole genome sequencing
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838216/
https://www.ncbi.nlm.nih.gov/pubmed/36635046
http://dx.doi.org/10.26508/lsa.202201673
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