Olson J E, Bielinski S J, Ryu E, Winkler E M, Takahashi P Y, Pathak J, Cerhan J R
Department of Health Sciences Research, Rochester, MN, USA.
Clin Genet. 2014 Jul;86(1):50-5. doi: 10.1111/cge.12370. Epub 2014 Mar 27.
We provide a mini-review of how biobanks can support clinical genetics in the era of personalized medicine. We discuss types of biobanks, including disease specific and general biobanks not focused on one disease. We present considerations in setting up a biobank, including consenting and governance, biospecimens, risk factor and related data, informatics, and linkage to electronic health records for phenotyping. We also discuss the uses of biobanks and ongoing considerations, including genotype-driven recruitment, investigations of gene-environment associations, and the re-use of data generated from studies. Finally, we present a brief discussion of some of the unresolved issues, such as return of research results and sustaining biobanks over time. In summary, carefully designed biobanks can provide critical research and infrastructure support for clinical genetics in the era of personalized medicine.
我们提供了一篇关于生物样本库如何在个性化医疗时代支持临床遗传学的小型综述。我们讨论了生物样本库的类型,包括针对特定疾病的以及不专注于某一种疾病的通用生物样本库。我们阐述了建立生物样本库时的考量因素,包括同意书与管理、生物样本、风险因素及相关数据、信息学,以及与用于表型分析的电子健康记录的关联。我们还讨论了生物样本库的用途及持续存在的考量因素,包括基因型驱动的招募、基因-环境关联研究,以及对研究产生的数据的再利用。最后,我们简要讨论了一些尚未解决的问题,如研究结果的反馈以及生物样本库的长期维持。总之,精心设计的生物样本库能够为个性化医疗时代的临床遗传学提供关键的研究和基础设施支持。