10 Mar 2014, Dr Mark J Poznansky, BioSpectrum
In 1997, the human genome was still years away from being fully mapped. Our knowledge of how genes turn on and off, and how they interact with one another was still in its infancy. Research was expensive, slow and so complex that digging down into individual genomes for meaningful information seemed almost unimaginable.
Today, such analysis is fast, cheap and easy. The former trickle of data has become a flood. Genomics research has burst out of university laboratories into every day, with many companies now offering ordinary customers information about their genetic predisposition to hundreds of diseases and conditions.
This revolution has occurred alongside some equally powerful global transformations. Demographics have changed - in many areas of the world, aging populations and longer lifespans create new demands for health-care systems - nearly a quarter of Japan's population, for instance, is over 65.
Meanwhile, the increasing wealth of countries such as China, India, Brazil and Russia create new health-care related expectations and concomitant challenges.
Since its founding 16 years ago, the Ontario Genomics Institute has kept pace, becoming a driver and catalyst for Ontario's life sciences industries - those companies that deal with health, agriculture and the environment. Among other things, OGI helps ensure that Ontarians contribute to the rapidly expanding world of personalized medicine.
Given these truly astounding shifts in knowledge, economics and demographics, I know of no more pressing need than to build our capacity to put this research to work in the service of driving new medical treatments and preventive therapies - procedures and drugs that are customized to each patient's individual needs. This revolution is happening now. It comes with great opportunities, (and not a few risks).
Consider the complex hereditary condition Schizophrenia. This terrible mental disorder can cause hallucinations, paranoia, emotional dysfunction and other devastating effects. There are a number of pharmaceuticals that can be used to treat people with Schizophrenia, but patient's individual genetic makeup can determine which drugs would be a better fit for them.
Currently, the gold standard for determining the right drug for a person is costly, time-consuming and potentially dangerous trial and error. But right now, more than 1,000 patients in Ontario are enrolled in a clinical trial that could streamline this process, and make it easier to find the right fit between remedy and patient.
Researchers are using information about seven genes that are associated with Schizophrenia to eliminate the guesswork surrounding treatment. Such genes are associated with mechanisms of drug metabolism and the extent to which the drugs may contribute to obesity or mania. It's one of many such amazing advances in personalized medicine that will not only save money, but also reduce pain and suffering for patients and their loved ones.
Another area where personalized medicine is showing great promise is in the area of rare diseases, especially among newborns and infants. Some afflictions are so rare that medical professionals can unwittingly embark on what is referred to as a "diagnostic odyssey," testing for dozens of better-known maladies before arriving at the correct cause of illness; putting huge stress on the infant, its family and the health care system.
Not only can simple genetic tests save time, money and heartbreak, but the identification of the gene (or genes) that cause such diseases can sometimes open the door to finding treatments.
Then there is the case of rheumatoid arthritis (RA), an autoimmune disease that causes inflammation of tissues and organs, especially in the joints. People with the condition experience constant pain and have trouble maintaining mobility.
There are two drugs that can treat rheumatoid arthritis in Ontario. One costs as little as CDN USD312 per year, and the other a whopping CDN $35,000. The first drug can be terribly toxic and the second drug only works in 30-to-35 percent of RA patients. Genetic analysis may reveal which patients will respond well to what drug, thereby reducing toxicity on the one hand and administering the very expensive drug only to those known responders on the other. In Ontario alone, this could save tens of millions of dollars every year. The global benefits would of course orders of a larger magnitude.
The treatment and curative potential of personalized medicine - for everything from autism to Alzheimer's - is truly thrilling. Equally exciting, though, are opportunities for prevention.
To cite a classic example, suppose you discovered that your genes make you vulnerable to developing lung cancer. While it might be possible to develop medicines or gene therapies to counter this predisposition, the most effective course of action might simply be: never smoke, avoid smog, and never, ever become a coal miner.
We are learning so much from our genes, and increasingly, that knowledge is empowering us to make the kinds of choices that can keep us from getting sick in the first place.
It would be disingenuous to ignore the complexities and even some of the risks associated with vast, new sources of knowledge in genetics and personalized medicine. I often refer to a prediction made by Lee Hood, a pioneer in the field of personalized medicine who said upon receiving an award from the Personalized Medicine Coalition in 2011:
"In the next decade, billions of data points will surround each individual - this will allow straightforward predictions about health and disease in each person," he seed in 2011. "We need to build systems capable of resolving this complexity into simple hypotheses about health and wellness."
Those billions of data points will ultimately provide tremendous insight and some exciting solutions in personalized medicine. They will also raise some important questions.
There are issues of privacy: would you want your insurance company or your employer to know what your genes foretell about your health and wellbeing? What about your spouse? How do you deal with the fact that your genetics also potentially reveal information about your close relatives?
Then there are emotional and philosophical issues: If your genes reveal you are likely to get a disease for which there is no prevention or cure, would you even want to know? Are we developing the support and counseling infrastructure to help ordinary people process this flood of new self-knowledge?
I believe questions such as these present a case not for turning away from personalized medicine, but for proceeding thoughtfully and prudently. We are just starting to gain a full understanding of the astounding potential benefits of such research. We have a responsibility to venture ever further into this realm with the self-awareness to reap the benefits, while simultaneously mitigating the risks.
Both the Canadian and Ontario governments recognize this need, and are investing heavily: Programs such as Compute Canada and Compute Ontario are investing heavily in IT infrastructure including biological and health informatics. Genome Canada and the Ontario Ministry of Research and Innovation invest heavily in a user and industry-focused initiative called the Genomics Applications Partnership Program. Following a $150 million investment in large-scale personalized medicine research programs, new investments (including approximately $100 million from Genome Canada) are being made in related genomics research in the agriculture and energy sectors.
I believe these investments reflect a commitment and ambition for Ontario to play a leadership role in this transformational field. This province has such a powerful and integrated network of universities and robust life sciences and technology sectors that it makes sense to invest in groundbreaking work that reverberates around the world.
In the sixteen years since the OGI was formed, the field of genomics research and personalized medicine has transformed beyond all imagination Sequencing the first human genome took hundreds of millions of dollars. Now it costs less than $1,000 and the price will soon be reduced to little more than pocket change.
Current investments help ensure that Ontario can continue to expand the boundaries of knowledge about personalized medicine, find new ways of applying this work to create new preventions, treatments and cures. I believe it will not be long before we will start to see very major returns on this investment, in the health and wealth of people in this province and those around the world.