Using NGS technology, Center for Genomic Medicine at Rigshospitalet sequenced the DNA of a lung cancer patient and identified a BRAF activating mutation. The team at Rigshospitalet predicted that the patient would benefit from a treatment targeted at this specific mutation – even though, normally only patients with a melanoma would receive this drug. The patient responded very well and the mutation is no longer detected in the free circulating DNA. The patient is still alive today.
QIAGEN solutions are important for data analysis at Rigshospitalet. Biomedical Genomics Workbench is used for analysis of raw sequencing data, for example when reads are mapped to a reference genome, allowing for the identification of a patient’s genomic variants. Ingenuity Variant Analysis is employed for interpretation of the variants identified. It filters out the high number of non-pathogenic mutations found in all patient samples, and helps to identify clinically relevant and actionable mutations linked to the disease in question.
Professor Finn Cilius Nielsen, Head of the Center for Genomic Medicine at Rigshospitalet in Copenhagen.
Center for Genomic Medicine is transforming advances in genomics into better diagnostics and treatments for patients. The Center facilitates the knowledge about genomic medicine in clinical care and in close collaboration with the Phase 1 unit at Rigshospitalet, they are employing next-generation sequencing to improve treatment and survival.