Allan Appel Photo
Yale New Haven CEO Marna Borgstrom (in blue), Richard Lisitano, Keith Churchwell, and Michael Murray cut the ribbon.
A locally run long-term trial will sequence and study the DNA of up to 100,000 participants with the aim of finding new ways to detect and attack cancer and heart disease — and crack the code of other diseases.
Officials from by Yale New Haven Hospital and Yale Medical School’s Yale Center for Clinical Investigation (YCCI) Wednesday announced the launch of what they are calling the Generations Project, one of the country’s largest DNA sequencing efforts.
Its aim: To enroll, within the next five years, 100,000 people from within the orbit of Yale-connected medical facilities statewide and beyond to consent to offering a dab of saliva and a teaspoon of blood — the basic materials from which the human genome will then be tested, sequenced, and examined.
Murray and Borgstrom.
“The groundbreaking piece,” said principal researcher Michael Murray, “is we are going to generate 100,000 people into a research cohort, a research infrastructure that can be used for a hundred years.”
That research, with so many participants, will enable scientists to look for patterns of changes to alert patients to protect against disease, target new drug development, and translate the results into better clinical care, according to the pitch at the heart of the participant recruitment materials.
The materials were distributed at an optimistic news conference convened at YCCI offices at 2 Church Street South, where samples have already begun to be taken.
Three hundred eleven people have already signed the serious consent forms and provided samples since June, the pilot phase of the project, said project Associate Director Anastasio Kelly.
Officials said the push to get people to volunteer is ramping up quickly, especially with an electronic consent form that has been developed by Murray and others on the staff.
Dr. Michael Murray.
Participants agree to have their genomic profile merged or be on file with their ongoing medical records. That way clinical and academic research from the GP project that bears on discovery of new gene patterns like sensitivity or dosage of a particular drug for a particular patient would be immediately addressed in a communication to participant/patient and his or her doctor, for example.
“Three percent will be notified for having in their genome specific gene changes that put people at high health risk” for conditions like heart disease and cancer, Murray estimated.
If your gene profile suggests you might be at risk for Alzheimers or other conditions for which there is no current cure, no notification will go out, he added. If treatment for Alzheimer’s becomes available years from now, you and your doctor would automatically be notified to take appropriate actions.
“This is forever,” Kelly said.
Alpern addresses his colleagues.
In 2010 the Yale Center of Genomic Health was organized, and it was one of the first in the country to develop the capacity for exome sequencing.
“Human genetics has transitioned to human genomics,” said Yale Medical School Dean Robert Alpern.
The first genomic sequencing took ten years and a billion dollars to accomplish, he noted. Now you can do it for $300 and in a day.
It’s now technically fairly easy to do the sequencing, Alpern said. The forward-looking genomic science is to focus not on single genes but on patterns of mutations and correlate those changes to health risks.
Perhaps most challenging for the project at this point is to obtain developed consent and authorization forms, candid and informational enough to answer people’s concerns about privacy and other sensitive matters.
Those include how their genomic information will be used, stored, studied, loaned out to other researchers, and become the bases for new products. Yale’s materials, on line, on paper, and in person, explain all that.
To learn more about the Generations Project and how you can participate, .(JavaScript must be enabled to view this email address) or call 1 – 877-978‑8343.
