Project: An integrated knowledge framework for curation and high-throughput clinical variant interpretation in somatic oncology

Lung cancer is the leading cause of cancer death worldwide. It is often discovered in a late stage leading to short expected survival time. Accurate and timely diagnosis is crucial to choose the right treatment for patients, and improve their chances for survival. Genetic tests in particular have emerged as accurate tools to characterize cancer subtypes and personalize treatment. Current testing practice however evaluates only a single genomic variant, or a few variants in an iterative process that costs time. A method is needed to improve this unfavorable situation. The solution is parallel evaluation of all variants in relevant lung cancer genes for to identify actionable variants. This will improve diagnosis accuracy and therapy selection, benefit patient outcomes and reduce cost to the health care system. This project aims to achieve this at a cost competitive with current best practice by combining (a) next generation sequencing to cost-effectively assess all variants in a panel of genes, (b) a high quality knowledgebase of pathogenic and treatment relevant variants to establish their impact and (c) a clinical grade information system to deliver this information in a clinical context and embed it into the routine diagnostic flow. The project members are ideally poised to successfully complete this project, with sound expertise in clinical applications for content delivery, software and database technology, regulatory compliance, and business development: Biobase markets high-quality curated knowledge bases for clinical genetics; Cartagenia markets robust clinical variant assessment and reporting systems geared at diagnostic labs and clinics, and Hannover Medical school is deeply involved in diagnostic practice and translational research. The resulting product is highly innovative, for the first time introducing next generation sequencing to routine cancer diagnosis.

Network ETB-PRO
Call 8th call for proposals (Call 2013)

Project partner

Number Name Role Country
BIOBASE Coordinator Germany
Belgium Belgium