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Implementation of genomics in medical practice to deliver precision medicine for an Asian population
npj Genomic Medicine ( IF 5.3 ) Pub Date : 2019-06-07 , DOI: 10.1038/s41525-019-0085-8
Yasmin Bylstra , Sonia Davila , Weng Khong Lim , Ryanne Wu , Jing Xian Teo , Sylvia Kam , Tamra Lysaght , Steve Rozen , Bin Tean Teh , Khung Keong Yeo , Stuart A. Cook , Patrick Tan , Saumya Shekhar Jamuar

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.



中文翻译:

在医学实践中实施基因组学以为亚洲人口提供精准医学

尽管精密医学的基本原理在全球范围内具有可比性,但与报道的涉及欧洲人群的计划相比,亚洲地区的基因组参考,健康实践,成本和歧视政策有所不同。我们已经开发出了不断发展的基因组和表型数据参考库,以及将医学上重要的变异返回给适用于亚洲背景的认可研究参与者的框架,从而解决了这些变量。针对10,000名参与者,超过2000名新加坡人,他们没有已知的健康状况,他们已经同意进行广泛的临床健康检查,家庭健康史收集,基因组测序和持续的随访。使用内部生物信息学管道分析与孟德尔疾病和药物反应相关的基因子集中的基因组变异。一个多学科团队审查变体的分类,并生成研究报告。医学上重要的变异体将通过定制的结果返回基因组学诊所返回给同意的参与者。建议酌情进行变体验证和随后的临床转诊。这种灵活的学习框架的设计和实施,可以建立健康新加坡人详细表型和基因型的队列,并确定该人群中致病变异的频率。我们的发现将有助于国际精准医学计划,

更新日期:2019-06-07
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