实施药物遗传护照的障碍和促进因素:从重复使用测序数据中吸取的经验教训
Anja H A Roelofsen1, Loes Lindiwe Kreeftenberg1,2, Carla G van El1,2
1Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Pharmacogenomics
|May 21, 2025
概括
实施药物遗传护照,使用遗传数据进行个性化医疗,面临诸如数据基础设施和知识差距等障碍. 促进者包括效率和患者数据控制,指导未来的实施策略.
科学领域:
- 药物遗传学和个性化医学
- 医疗信息学 医疗信息学
- 基因组数据的利用
背景情况:
- 药物遗传学通过分析遗传特征来优化药物治疗,以防止药物不良反应.
- 为药物遗传护照重新使用现有的测序数据为医疗保健提供者提供了预防性,终身的患者信息.
研究的目的:
- 探索利益相关者对实施药物遗传护照的障碍和促进者的看法.
- 评估未来在荷兰大学医学中心对药物遗传护照的测序数据的再利用前景.
主要方法:
- 与21个利益相关者进行了半结构化访谈.
- 专题分析用于分析采访数据,主题分为结构,文化和实践.
主要成果:
- 障碍包括数据基础设施不足,药物遗传学知识有限,指导方针和任务不清楚,以及医院优先事项的竞争.
- 促进者包括从重复使用的测序数据中获得结果的轻松性,效率和负担能力,利益相关者的积极态度以及患者对健康数据的控制.
结论:
- 克服障碍和加强促进者的战略对于药物遗传护照的实施至关重要.
- 专注于数据基础设施,指南可见性,任务明确性和药物遗传学教育至关重要.
相关概念视频
03:00Next-generation Sequencing
86.7K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
86.7K
01:57Sanger Sequencing
752.0K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
752.0K