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Implementation of genomics in medical practice to deliver precision medicine for an Asian population

Whilst the underlying principles of precision medicine are comparable across the globe, genomic references, health practices, costs and discrimination policies differ in Asian settings compared to the reported initiatives involving European-derived populations. We have addressed these variables by d...

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Autores principales: Bylstra, Yasmin, Davila, Sonia, Lim, Weng Khong, Wu, Ryanne, Teo, Jing Xian, Kam, Sylvia, Lysaght, Tamra, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart A., Tan, Patrick, Jamuar, Saumya Shekhar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555782/
https://www.ncbi.nlm.nih.gov/pubmed/31231544
http://dx.doi.org/10.1038/s41525-019-0085-8
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author Bylstra, Yasmin
Davila, Sonia
Lim, Weng Khong
Wu, Ryanne
Teo, Jing Xian
Kam, Sylvia
Lysaght, Tamra
Rozen, Steve
Teh, Bin Tean
Yeo, Khung Keong
Cook, Stuart A.
Tan, Patrick
Jamuar, Saumya Shekhar
author_facet Bylstra, Yasmin
Davila, Sonia
Lim, Weng Khong
Wu, Ryanne
Teo, Jing Xian
Kam, Sylvia
Lysaght, Tamra
Rozen, Steve
Teh, Bin Tean
Yeo, Khung Keong
Cook, Stuart A.
Tan, Patrick
Jamuar, Saumya Shekhar
author_sort Bylstra, Yasmin
collection PubMed
description Whilst the underlying principles of precision medicine are comparable across the globe, genomic references, health practices, costs and discrimination policies differ in Asian settings compared to the reported initiatives involving European-derived populations. We have addressed these variables by developing an evolving reference base of genomic and phenotypic data and a framework to return medically significant variants to consenting research participants applicable for the Asian context. Targeting 10,000 participants, over 2000 Singaporeans, with no known pre-existing health conditions, have consented to an extensive clinical health screen, family health history collection, genome sequencing and ongoing follow-up. Genomic variants in a subset of genes associated with Mendelian disorders and drug responses are analysed using an in-house bioinformatics pipeline. A multidisciplinary team reviews the classification of variants and a research report is generated. Medically significant variants are returned to consenting participants through a bespoke return-of-result genomics clinic. Variant validation and subsequent clinical referral are advised as appropriate. The design and implementation of this flexible learning framework enables a cohort of detailed phenotyping and genotyping of healthy Singaporeans to be established and the frequency of disease-causing variants in this population to be determined. Our findings will contribute to international precision medicine initiatives, bridging gaps with ethnic-specific data and insights from this understudied population.
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spelling pubmed-65557822019-06-21 Implementation of genomics in medical practice to deliver precision medicine for an Asian population Bylstra, Yasmin Davila, Sonia Lim, Weng Khong Wu, Ryanne Teo, Jing Xian Kam, Sylvia Lysaght, Tamra Rozen, Steve Teh, Bin Tean Yeo, Khung Keong Cook, Stuart A. Tan, Patrick Jamuar, Saumya Shekhar NPJ Genom Med Perspective Whilst the underlying principles of precision medicine are comparable across the globe, genomic references, health practices, costs and discrimination policies differ in Asian settings compared to the reported initiatives involving European-derived populations. We have addressed these variables by developing an evolving reference base of genomic and phenotypic data and a framework to return medically significant variants to consenting research participants applicable for the Asian context. Targeting 10,000 participants, over 2000 Singaporeans, with no known pre-existing health conditions, have consented to an extensive clinical health screen, family health history collection, genome sequencing and ongoing follow-up. Genomic variants in a subset of genes associated with Mendelian disorders and drug responses are analysed using an in-house bioinformatics pipeline. A multidisciplinary team reviews the classification of variants and a research report is generated. Medically significant variants are returned to consenting participants through a bespoke return-of-result genomics clinic. Variant validation and subsequent clinical referral are advised as appropriate. The design and implementation of this flexible learning framework enables a cohort of detailed phenotyping and genotyping of healthy Singaporeans to be established and the frequency of disease-causing variants in this population to be determined. Our findings will contribute to international precision medicine initiatives, bridging gaps with ethnic-specific data and insights from this understudied population. Nature Publishing Group UK 2019-06-07 /pmc/articles/PMC6555782/ /pubmed/31231544 http://dx.doi.org/10.1038/s41525-019-0085-8 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Perspective
Bylstra, Yasmin
Davila, Sonia
Lim, Weng Khong
Wu, Ryanne
Teo, Jing Xian
Kam, Sylvia
Lysaght, Tamra
Rozen, Steve
Teh, Bin Tean
Yeo, Khung Keong
Cook, Stuart A.
Tan, Patrick
Jamuar, Saumya Shekhar
Implementation of genomics in medical practice to deliver precision medicine for an Asian population
title Implementation of genomics in medical practice to deliver precision medicine for an Asian population
title_full Implementation of genomics in medical practice to deliver precision medicine for an Asian population
title_fullStr Implementation of genomics in medical practice to deliver precision medicine for an Asian population
title_full_unstemmed Implementation of genomics in medical practice to deliver precision medicine for an Asian population
title_short Implementation of genomics in medical practice to deliver precision medicine for an Asian population
title_sort implementation of genomics in medical practice to deliver precision medicine for an asian population
topic Perspective
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555782/
https://www.ncbi.nlm.nih.gov/pubmed/31231544
http://dx.doi.org/10.1038/s41525-019-0085-8
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