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推进全球精准医学:马来西亚基因组检测与咨询服务概述。

Advancing Global Precision Medicine: An Overview of Genomic Testing and Counseling Services in Malaysia.

机构信息

1 Department of Pharmacy, School of Health Sciences, University of Patras , Patras, Greece .

2 Department of Social and Preventive Medicine, Faculty of Medicine, Julius Centre University of Malaya , Kuala Lumpur, Malaysia .

出版信息

OMICS. 2017 Dec;21(12):733-740. doi: 10.1089/omi.2017.0136. Epub 2017 Nov 27.

Abstract

Precision medicine, genomic and diagnostic services are no longer limited to developed countries. This broadening in geography of biomarker applications and omics diagnostics also demands empirical study of implementation, diagnostic testing, and counseling practices in the field. For example, the Malaysian population has large ethnic diversity and high prevalence of genetic disorders such as hemoglobinopathies and metabolic disorders. Increased morbidity and mortality from such diseases have a direct impact on society and health system sustainability and for this, decision-making becomes of outmost importance. We report here on our findings on the landscape of genomic testing and genetic counseling services in Malaysia. We first defined the framework of all Malaysian stakeholders that offer genomics services and next, we identified the related information gaps, as depicted through the service providers' online websites. Our research framework revealed that there is a very diverse spectrum of genomics services in Malaysia, in which wet- and dry-laboratory services integrate. Moreover, we identify the current gaps and possible remedies to improve the quality of genomic and predictive analytics, not to mention considerations to ensure robust ethics and responsible innovation. To our knowledge, this is the first such study to be performed for a Southeast Asian country. Our genomics and precision medicine services mapping strategy presented in this study may serve as a model for field assessment at regional, national, and international levels as precision medicine is expanding globally and new governance challenges and opportunities continue to emerge for smart implementation science.

摘要

精准医学、基因组学和诊断服务不再局限于发达国家。生物标志物应用和组学诊断的地理范围不断扩大,这也要求对该领域的实施、诊断测试和咨询实践进行实证研究。例如,马来西亚人口种族多样性大,遗传性疾病如血红蛋白病和代谢紊乱的发病率也很高。这些疾病的发病率和死亡率增加对社会和医疗体系的可持续性有直接影响,因此决策变得至关重要。我们在此报告了我们在马来西亚基因组学检测和遗传咨询服务领域的发现。首先,我们定义了所有提供基因组学服务的马来西亚利益相关者的框架,其次,我们通过服务提供商的在线网站确定了相关的信息差距。我们的研究框架表明,马来西亚的基因组学服务非常多样化,其中包括湿实验室和干实验室服务。此外,我们还确定了当前的差距和可能的补救措施,以提高基因组学和预测分析的质量,更不用说考虑确保强大的伦理和负责任的创新了。据我们所知,这是第一个针对东南亚国家进行的此类研究。我们在本研究中提出的基因组学和精准医学服务映射策略可以作为区域、国家和国际层面现场评估的模型,因为精准医学在全球范围内不断扩展,新的治理挑战和机遇不断涌现,需要实施明智的创新科学。

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