Researchers link sequencing, biomarkers, cancer trials

Sequencing is becoming cheaper by the day. According to the National Human Genome Research Institute (NHGRI), the cost has fallen to around $10,500 per genome (in July), and this accessibility has opened up a wealth of sequence data for many different disorders, including cancer. A pilot study at the University of Michigan Comprehensive Cancer Center and Michigan Center for Translational Pathology (MCTP) has looked at how useful systematic genetic screening would be for patients with advanced or treatment-resistant cancer.

Cancer arises from mutations, including rearrangements of sections of the DNA along with additions, deletions or substitutions. These can be associated with biomarkers that are specific to the cancer cells. The aim of the exploratory study, known as the Michigan Oncology Sequencing Project (MI-ONCOSEQ), was to solve the practical challenges of sequencing the DNA of patients, finding the biomarkers, and then matching these with existing clinical trials.

In the pilot study, the researchers sequenced the genome (entire DNA), exome (coding DNA) and transcriptome (entire RNA) of a number of patients. Information from the sequencing allowed two patients, one with colorectal cancer and one with melanoma, to be matched with potential clinical trials.

As well as lining up patients and trials, the researchers believe that this method could help researchers think differently about the design of clinical trials, perhaps making them biomarker-led across a number of cancer types. While this approach would need access to more layers of data management and faster sequencing and analysis, as well as counseling support for any additional genetic disorders identified, it could lead to personalized medicine focused on a DNA aberration rather than a disease.

- read the release
- see the abstract
- check out the PHG Foundation article