This year's distinguished investigator, Dr. Proton Rahman, delivered a thought-provoking lecture about precision medicine and the future. In case there was any doubt, his lecture highlighted that he is absolutely brilliant!! I have since asked many people (both scientists and clinicians) on their thoughts. Although most people admitted that much of the material was above their heads, the unanimous consensus was that we are so lucky to have him in Canada!
As many of you know, Barack Obama's administration has invested 215 million dollars into precision medicine. The goals of precision medicine (also called personalized medicine) include predicting disease risk factors, pharmacogenomics, biomarkers, outcomes, loss of function mutations, classification of disease, patient empowerment and targeted clinical trials. The work has begun, but likely won't be widely applicable until at least 5-10 years from now.
Dr. Rahman reviewed the utility of gene mutation sequencing and linkage to clinical cohorts and databases. Using genetic mapping in the future, we may be able to identify mutations that are associated with specific toxicities and responses to treatment. We will also be able to study familial gene patterns to look for differences in gene expression and mutations as they are related to the development of disease. We may then be able to use this information to determine the risk of disease expression and modify environmental factors. There is technology to snip and edit gene sequences for those at risk. Of course, nothing is without its issues. We may have to deal with false positives and rare mutations that are not pathogenic.
As eloquently put by Dr. Lori Tucker, the main take home from the session, and what is most exciting, is the opportunity for collaboration between basic science researchers and clinicians….. true translational research will be the wave of the future!!
Dr. Jamal is a Clinical Associate Professor at the University of British Columbia and an active staff physician at Vancouver Coastal Health. Her interests include diagnosis and prognosis of early inflammatory arthritis, and timely assessment and access to care for patients with rheumatoid arthritis.View Full Bio