Mendelspod’s recent interview with Marco Marra of the BC Cancer Agency and the University of British Columbia is well worth a listen. In the podcast, Marra describes his team’s use of genome and transcriptome sequencing for patients whose cancer is considered incurable.
Marra first captured attention in this area in 2009 when he reported his lab’s use of whole genome sequencing to inform treatment decisions for a patient with a rare adenocarcinoma. Genome and transcriptome analysis revealed that the tumor was driven by the RET oncogene. The patient, for whom there had been no clear therapy option, was treated with a RET inhibitor that was in clinical trials at the time — and the tumor shrank significantly.
Since then, Marra parlayed that individual project into a pilot study for how whole genome sequencing could be expanded to other cancer patients. That study was broadened again in 2014 and today his team has analyzed some 400 people who essentially have no other options for treatment. The scientists look for all sorts of mutation types, from SNPs to structural variants and more. One major challenge has been off-label use of drugs: in many cases, genome analysis points to a therapy that’s not indicated for the patient’s type of cancer, and gaining access to the therapy is hit or miss. As the cancer genomics program has expanded, Marra wrestles with questions like, “What is the meaning of having whole genome analysis that points you to a particular agent that you can’t get?” As he told interviewer Theral Timpson, “These are deep conversations that are happening within our environment and probably elsewhere.”
Marra is also keeping a close eye on how clinicians apply information from the genomic analysis. Doctors who just get a report of mutations tend to be less comfortable incorporating that data into treatment decisions. But a weekly conference that allows physicians, scientists, bioinformaticians, and pathologists to walk through case studies often prompts useful interdisciplinary discussions and frequently leads to increased implementation of genomic results, he said.
If you’ve got a little time, we highly recommend listening!