An email popped up in Hershel Richman’s inbox. “Your new personalized risk report is now available through the CPMC web portal!” the email cheerfully informed him. Its contents were tactfully vague: some talk of “genetic counselors” and a medicine collaborative. But this wasn’t some credit report spam, or a Nigerian phishing scam. No, Richman, a retired environmental lawyer and former president of Jewish Learning Venture, a not-for-profit based in Pennsylvania, was about to find out his relative likelihood of developing macular degeneration, one of the leading causes of blindness in the United States.
Richman had given the New Jersey–based Coriell Institute his family history, his medical history, his diet and exercise routines and his DNA as one of 7,500 volunteers seeking to help advance mankind’s understanding of the genetic basis for disease. The genetics lab had scanned his genes, crunched the numbers, weighed his odds and were ready to tell him how likely he was to go blind.
“I’m the type of guy who wants to go to the bottom line,” says Richman, and so he breezed past information about the disease, declined to speak to a genetic counselor immediately, agreed to see the results, assured the computer that he really was ready to see the results and got to the numbers. As always, he was eager to find out his risks. Coriell had previously informed him about his risk for heart disease, type 2 diabetes and adverse reactions to the anticoagulant coumadin, as scientists linked genes to these conditions.
Along with his fellow participants, Richman had become accustomed to periodically learning his odds for contracting various grave illnesses. In a way, Coriell’s study makes all its participants betting men and women.
The Coriell Institute was founded 60 years ago by Dr. Lewis Coriell, a researcher who helped make Jonas Salk’s polio vaccine reproducible on a mass scale. In 2007, it launched an ambitious new project: the Coriell Personalized Medicine Collaborative. The CPMC seeks to enroll 10,000 volunteers, scan selected sites of their genome, look over their family history and current lifestyle, inform them of their medical risks for common illnesses and track what they do with the information.
Are people able to fend off their genetic predispositions? Will they overreact? Do nothing? With the price of sequencing falling and the emergence of new genetic scanning firms, understanding the pros and cons of knowing one’s genetic risks is increasingly urgent. Whether patients take genetic profiles as destiny or discard them as meaningless may decide the future of personalized medicine.
“We’re not talking about diseases like Tay-Sachs or cystic fibrosis where one gene [leads to] one disease,” says Erynn Gordon, director of genetic counseling at Coriell. “That’s kind of the classical model of genetics that most people think of… the peas and Mendel.” Indeed, because the CPMC focuses on complex genetic conditions, it doesn’t even screen for most single-gene diseases, deadly as some may be.
“The diseases that we’re looking at are caused by a combination of multiple genes and multiple environmental factors and it’s how all those things fit together that ultimately will lead to the disease,” Gordon says.
For this reason, Coriell gives people three numbers for a particular disease — a genetic risk value, a family history risk value and a risk value based on their self-reported lifestyle. Because it’s not yet known how to weigh these factors, Gordon says, an individual’s exact risk can’t be calculated.