Landmark Mass. heart study now expanding to genetics

Jay Lindsay

FRAMINGHAM — Doctors didn’t know cigarettes were bad and thought high blood pressure could sometimes be good when homemaker Helen Vaughn was lured by a 1948 newspaper ad to join one of history’s most important medical studies.

At the time, Vaughn’s main attraction to the Framingham Heart Study was its free medical exams. Sixty years later, Vaughn is nearing 91 and the landmark study has moved well past exposing the health risks of cigarettes and high blood pressure to ambitious new work to discover the genetic factors behind health and disease.

Last Thursday, researchers marked the study’s 60th anniversary year by highlighting new research and thanking Vaughn and the study’s three generations of participants. It’s a legacy that early volunteers never anticipated.

“I’m very, very lucky to be part of this study, which is known all over the world,” Vaughn said.

The federal government launched the study in 1948 amid an epidemic of heart disease. The idea was to compile reams of health data on a group of people in their 30s, 40s and 50s, and hope that over time links would emerge between their lifestyles and heart health.

Framingham, a town of about 67,000 about 20 miles west of Boston, was chosen for its mix of ethnic groups and blue- and white-collar workers, as well as the availability of volunteers. Its population at the time the study began was about 29,000.

About 5,200 people signed up for detailed physical exams every two years that included all manner of poking and prodding, including tests for mental dexterity. Now conducted in collaboration with Boston University, the study counts more than 14,000 participants in its three generations, and officials are already talking about recruiting a fourth generation.

The unprecedented amount of data led Framingham researchers to publish more than 1,200 scientific papers, including findings that are now basic building blocks for good health, weighing on people’s minds every time they reach for an extra dessert.

Among the discoveries: Cigarette smoking, high blood pressure and high cholesterol and diabetes raise the risk of heart disease, and physical exercise lowers the risk.

The study’s importance has given participants a level of fame in the medical community. Last Thursday, study participants recalled being treated with awe and respect by doctors they met in far-flung places.

“When health researchers hear the words ‘Framingham study,’ it’s like 24-carat gold,” said Mike Leavitt, secretary of the U.S. Department of Health and Human Services. “The consistency and data that’s come from that long period cannot be replaced.”

The move into the field of genetics is a whole new horizon, said Dr. Daniel Levy, director of the study, which is funded by the National Heart, Lung, and Blood Institute. The new program, called Framingham SHARe, seeks to link data from the study to ongoing research into disease.

Scientists know just a small proportion of the genes most strongly linked with certain diseases. DNA and 60 years of clinical information from people in the Framingham study will strengthen the ability to identify new associations, and help scientists narrow down which genes go with which diseases. That can pave the way for huge advances in prevention and treatment, they say.

“When we find something in Framingham, you know you’re finding something that’s likely to be seen in the general population,” said Dr. Christopher O’Donnell, director of SHARe. “It’s a real-life laboratory if you will, of the genetics of disease.”

(Associated Press)