Developing genomic knowledge bases and databases to support clinical management: current perspectives.
Developing genomic knowledge bases and databases to support clinical management: current perspectives.
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DOI：
10.2147/pgpm.s49904
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发表时间：
2014
影响因子：
1.9
通讯作者：
Cimino JJ
中科院分区：
文献类型：
--
作者：
Huser V;Sincan M;Cimino JJ
个性化医疗，即为个别患者量身定做诊断和治疗决定的能力，被视为现代医学的演变。我们在这里描述了目前可用的或在不久的将来可以支持对基因组测试结果的临床解释的信息学资源。我们假设一种临床测序方案(生殖系全外显子测序)，在这种情况下，临床专家，如内分泌学家，需要在他或她的专业范围内定制患者管理决策(有针对性的发现)，但依赖遗传顾问来解释非靶标的偶然发现。我们描述了基因组输入数据的特征，并列出了为生成临床决策支持提供基因组知识的各种类型的知识库。我们强调，除了基因数据外，还需要患者级别的数据库，包括详细的终生表型内容，并提供个性化医学知识库和数据库的建议清单。我们的结论是，目前没有一个单一的知识库可以支持个性化建议的所有方面，将几个当前资源合并成更大、更动态和更协作的知识库可能会提供一条未来的道路。
Personalized medicine, the ability to tailor diagnostic and treatment decisions for individual patients, is seen as the evolution of modern medicine. We characterize here the informatics resources available today or envisioned in the near future that can support clinical interpretation of genomic test results. We assume a clinical sequencing scenario (germline whole-exome sequencing) in which a clinical specialist, such as an endocrinologist, needs to tailor patient management decisions within his or her specialty (targeted findings) but relies on a genetic counselor to interpret off-target incidental findings. We characterize the genomic input data and list various types of knowledge bases that provide genomic knowledge for generating clinical decision support. We highlight the need for patient-level databases with detailed lifelong phenotype content in addition to genotype data and provide a list of recommendations for personalized medicine knowledge bases and databases. We conclude that no single knowledge base can currently support all aspects of personalized recommendations and that consolidation of several current resources into larger, more dynamic and collaborative knowledge bases may offer a future path forward.