What is the importance of studying genomics? Genomic medicine is a discipline that involves using an individual’s complete set of DNA to improve their clinical care. An exciting trend that has developed from studying human genomics is personalized or precision medicine. This is the practice of using genomics, epigenetics, environmental exposure, and other data to form a genetic profile in order to make an informed diagnosis or treatment plan for a patient.

For example, BRCA1 has been identified to be a gene that produces a tumor-suppressing protein. Mutations in this gene are commonly associated with breast cancer, one of the most common cancers found in women worldwide. When this protein malfunctions, breast cells start to divide uncontrollably, causing a mass to develop. Mutations such as the ones associated with BRCA1 can be passed down genetically; however, depending on environmental and lifestyle factors, these genetic mutations may not ever be expressed.

Getting genetic testing done can reveal if someone has mutations on the BRCA1 gene, and preventative measures can be taken to address the risk of breast cancer. Tools have also been developed to visualize the human genome such as BioViews, which is used to create a physical, annotated sequence map and DNA sequence display. Data can be analyzed, visualized, and annotated, making it easier to make connections and organize different datasets.

CHiP faculty member and Associate Professor, Dr. Di Wu, has worked with genomic data to explore drug repurposing for different cancer subtypes. Based on the genomic profiling of the tumours, normal cells, and cells in the cancer cell lineage, drug sensitivity is being researched to determine the most effective treatment.