Updated on 10 March 2014
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.