Participants Learn Their Risk for Complex Diseases

Doni Bloomfield

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An email popped up in Hershel Richmans 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 wasnt 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 Jerseybased 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 mankinds 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.

Im 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, Coriells 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 Salks polio vaccine reproducible on a mass scale. In 2009, 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 ones genetic risks is increasingly urgent. Whether patients take genetic profiles as destiny or discard them as meaningless may decide the future of personalized medicine.

Were 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. Thats 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 doesnt even screen for most single-gene diseases, deadly as some may be.

See more here:
Coriell Institute Gives Patients a Genetic Crystal Ball — With Consequences

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