Clinical genomics information management software linking cancer genome sequence and clinical decisions

Stuart Watt, Wei Jiao, Andrew M K Brown, Teresa Petrocelli, Ben Tran, Tong Zhang, John Douglas Mcpherson, Suzanne Kamel-Reid, Philippe L. Bedard, Nicole Onetto, Thomas J. Hudson, Janet Dancey, Lillian L. Siu, Lincoln Stein, Vincent Ferretti

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


Using sequencing information to guide clinical decision-making requires coordination of a diverse set of people and activities. In clinical genomics, the process typically includes sample acquisition, template preparation, genome data generation, analysis to identify and confirm variant alleles, interpretation of clinical significance, and reporting to clinicians. We describe a software application developed within a clinical genomics study, to support this entire process. The software application tracks patients, samples, genomic results, decisions and reports across the cohort, monitors progress and sends reminders, and works alongside an electronic data capture system for the trial's clinical and genomic data. It incorporates systems to read, store, analyze and consolidate sequencing results from multiple technologies, and provides a curated knowledge base of tumor mutation frequency (from the COSMIC database) annotated with clinical significance and drug sensitivity to generate reports for clinicians. By supporting the entire process, the application provides deep support for clinical decision making, enabling the generation of relevant guidance in reports for verification by an expert panel prior to forwarding to the treating physician.

Original languageEnglish (US)
Pages (from-to)140-147
Number of pages8
Issue number3
StatePublished - Sep 2013
Externally publishedYes


  • Cancer genome sequencing
  • Clinical genomics
  • Decision support
  • Electronic data capture
  • Knowledge base
  • Web-based application

ASJC Scopus subject areas

  • Genetics


Dive into the research topics of 'Clinical genomics information management software linking cancer genome sequence and clinical decisions'. Together they form a unique fingerprint.

Cite this