Developing genomic knowledge bases and databases to support clinical management: current perspectives.

ABSTRACT: 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 p

SUBMITTER: Huser V 

PROVIDER: S-EPMC4175027 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature