To gather the information needed to unravel the puzzle, governments and enterprising companies have begun combing through epidemiologic and public health information collected over the years. For instance, the startup Framingham Genomic Medicine in Framingham, Mass., was recently formed to take advantage of more than 50 years and thousands of subjects’ worth of data collected from the studies first begun as the famous Framingham Heart Study–in which smoking was first linked to heart disease and the notion of “risk factors” was developed. “We’re looking for gene-environment interaction,” says Fred Ledley, chief scientific officer for Framingham Genomic Medicine. “Good genetic information has to be linked to good clinical data.”
Karen Cassidy’s case is a good example of how complicated the interactions between our genes, our environment and the drugs we take can be. Was her illness caused by a tick bite, the LYMErix vaccine, some underlying problem in her immune system-or a combination of all three? Today, it is up to the lawyers to sort it all out. But sometime soon clear scientific answers may be possible, not just to resolve health mysteries like Cassidy’s, but to prevent them altogether.
When those answers are available, they will do far more than just prevent adverse reactions. They will make it possible to practice medicine in a whole new way. At Genaissance, Ruano’s scientific staff is studying patients taking one of the many cholesterol-lowering drugs currently on the market, such as Lipitor, a popular prescription drug that rakes in nearly $4 billion a year in sales. Clinical data showing whose cholesterol drops and whose doesn’t, and who has a bad reaction to a drug, is correlated with DNA samples collected from the patients and decoded in the bank of sequencers. The hoped-for outcome: genetic markers that allow the optimal matching of patient and drug.
Armed with the data, a small army of Genaissance software developers are busy writing code for what Ruano hopes will be the “operating system” for the new era of personalized health care-a future in which a doctor seeing a high cholesterol reading, rather than writing a prescription solely on the basis of her accumulated experience, will check your DNA against an online gene database to find the right drug to prescribe.
But isn’t that a big change in the doctor’s role? Yes, says Herbert Chase, Yale Medical School’s deputy dean for education, and the reason is the explosion of medical information. In the future, says Chase, “it is likely that we will know from a drop of blood that a patient has 14 of 19 genes for high blood pressure, and we have 172 drugs that will interact with that. Only a computer will be able to organize this information.” Your doctor will become a middleman, Chase suggests, mediating between you, various genomic and information technology systems that will be the backbone of the health care system, and the pharmaceutical treatments that the computer prescribes.
By the time such systems arrive, the current dominant notion that “one size fits all” will likely be a distant memory, having given way to a nuanced, personalized strategy in which health care is focused on finding the right drug for smaller, genetically differentiated segments of the population-even single individuals. For the pharmaceutical industry, it will be a big change. “It’s a different mentality,” says Genaissance’s Ruano. “You need to develop drugs on a smart basis for a targeted market and create a portfolio of drugs that add up to a blockbuster. There will be many more products, and the dynamics of drug development, submission for approval and marketing will have to change.” For all who suffer from disease-and sooner or later that’s all of us-the changes could be even bigger and more fruitful.