Unprecedented technological advances in our ability to "read" our DNA – the personal code of life – mean the time is rapidly approaching when we will have our own personal genome available for analysis.
Since the sequencing of the human genome 10 years ago, no other area of science has undergone such a rapid evolution. Sequencing now takes days, not years, costs $5,000, not $50-million, and is getting even faster and cheaper.
No wonder the world is abuzz with questions about how this explosion of information will be available. Who will make use of this data and how will we integrate genomics into modern health care for Canadians? We do know the era of personalized medicine is here.
The onus is now on us to demonstrate how genomics and personalized medicine will change health care in Canada and help allay fears about what lies ahead.
To start, the recipients of a landmark $130-million research competition for personalized medicine will soon be named. The competition stipulated the need to show how personalized medicine will derive economic and social benefits for Canada.
By design, genomics research incorporates ethical, environmental, economic, legal and social considerations.
So we have the foundation of a legal and ethical framework governing what we in society do with this information. We have a lot of data. We know there's a link between genetic determinants and many diseases. What happens now?
At one end of the spectrum are single gene disorders that are relatively rare, affecting perhaps one in a million people, along with other more common conditions such as cystic fibrosis. In these diseases, genetics is the No. 1 quotient. If people have a defective cystic fibrosis gene, they will have the disease.
At the other end of the spectrum are common chronic diseases. Many genes may co-operate to create susceptibility to that condition but will manifest only if environmental components are added to the mix.
Thus, there's a complex genetic component to Type 2 diabetes, But this disease tends to appear in people who fail to exercise regularly, whose nutritional hygiene is less than optimal, and who consume alcohol above normal levels, for example.
For many forms of cancer, cardiovascular disease and neuro-degenerative diseases, the overall picture looks much the same: Genetics is important, but environmental factors play a significant role.
How will a personal map of our genome help us in a practical way?
We're beginning to see how simple tools that provide insight into drug treatment have high clinical and economic impact. Adverse drug reaction accounts for more than $10-billion in health-care spending annually in Canada.
Genetics is by far the most significant factor affecting drug reaction. Perhaps, some day, we will arrive at the pharmacy with our genotype on a computer chip. Many genes involved in drug metabolism are already identified, so we could be advised – or our medical practitioners could be advised – which drugs would be safe based on our personal genome.
We also know through Canadian research that some women prescribed codeine have a genetic makeup associated with high metabolic conversion to morphine. When transmitted through breast milk, morphine levels can be fatal to an infant. Both the U.S. Food and Drug Administration and Health Canada have issued warnings and called for label changes prohibiting codeine use for nursing mothers.
We know, too, that a widely used and extremely costly drug for cancer treatment is only effective for women who possess an overabundance of a certain protein. About 20 per cent of all breast cancers are positive for this condition. As a result, testing for this protein is mandatory following breast cancer diagnosis. If the test is not positive, the drug will not work.
It is very early days for personalized medicine. We're only just approaching its application. Potential benefits to patients and to health care are not yet fully realized.
A recent editorial published online through the United Nations Educational, Scientific and Cultural Organization sums up our challenge: "The biggest single factor determining any country's potential for achieving sustainable social and economic growth … is its ability to access and apply the fruits of modern science and technology in a responsible manner."
In Canada, that potential is real and certain. We must now confront the need to encourage change and chart a new course for modern medicine.
Pierre Meulien is president and CEO of Genome Canada. For more information about the Personal Genome Project, please visit Personal Genome Project Canada.