Rapid evolution of a clinical high-throughput DNA sequencing pipeline to next-generation sequencing
"Breast cancer patients in BC will experience the benefits of genetic medicine."
The Human Genome Project was launched in 1990, and involved a large international partnership of scientists working together to decipher the DNA sequence of the entire human genome. The project was completed in 2003, with promises of medical breakthroughs and personalized medicine. Many of these promises have not yet materialized due to a number of reasons including high costs and low turnaround times, however, BC is now finding a way to integrate genetic technology into routine clinical practice.
Dr. Aly Karsan, from the BC Cancer Agency, is determining if new DNA sequencing technologies can improve the data and reduce turnaround times and costs for patient testing.
Although the ultimate goal is to eventually use this new technology for all DNA sequencing in BC, he is first going to focus on developing the technology to test patients for inherited mutations in the BRCA1 and BRCA2 genes associated with and increased risk for developing breast and ovarian cancer. Currently all testing for this type of mutation are done at the BC Cancer Agency Cancer Genetics Laboratory (CGL); currently each test takes one year, and costs $1250. Dr. Karsan's goal is to reduce turnaround time for testing to one month, and reduce costs to $120 a test, using a next-generation DNA sequencing platform.
While this project primarily involves a technical component, it also involves a huge Information Technology component, as well as a health administration component. For the technical component, Dr. Karsan will combine next generation DNA sequencing with new technology developed at the Genome Sciences Centre Technology Development group to sequence multiple patients at a time. As part of this project he will also be testing software tools that can be used by technicians and scientists to evaluate the data and for communicating this information to physicians in "real time".
This study will take cutting-edge technology from the research sector to the health care sector so as to direct patient care decisions on a real-time basis. The immediate impact of this project will be in improvements in care as a result of physicians having the necessary information to make a treatment decision. Eventually, this technology will be used for other types of cases throughout BC, and potentially also to health authorities in other provinces. The ability to analyse a greater number of samples for less costs will permit the BC Cancer Agency to generate revenue by in-source genetic-based testing from other organizations and provinces.