Course Teaches Doctors Genetics

In this modern medical era of gene diagnosis and therapy, who better to answer your gene-related questions than a family physician, right?

Not so. As it turns out, many of today's primary care physicians are surprisingly ignorant about basic genetic concepts.

To help combat this illiteracy, the Cambridge Hospital (TCH) held a three-day long science course early last week to teach basic genetics to about 60 physicians.

The stated purposes of the conference, entitled "Genes in Primary Care--What You Really Need to Know," were to teach physicians enough about genetics so they could understand the scientific literature, show them how to use computer databases containing information about genetic diseases, and create a network of doctors, volunteer organizations and resources.

The workshop, whose devotion to genetics is rare among physician education courses, was the first collaboration between Cambridge Hospital, Harvard Medical School and MIT, said Dr. Hilary G. Worthen, co-organizer of the course and instructor in medicine at the Medical School.

The role of genetics in primary care has increased significantly in the past decade, said Dr. Edward B. Clark, director of a research center in pediatric cardiovascular disease at the University of Rochester. Many diseases once thought to be environmentally induced actually have a strong genetic basis, he said.

"Single gene defects account for more than 50 percent of cardiovascular malformations," Clark said.

"The majority of people who have high blood pressure don't have it because they don't exercise or because they eat too much salt, but because their genes predispose them towards that tendency," Clark said.

And 25 percent of the cases of familial hypertrophic cardiomyopathy are transmitted genetically, said Dr. Christine Seidman, associate professor of medicine at the Medical School and director of the Cardiovascular Genetics Center at Brigham and Women's Hospital.

But despite discovery of increasing links between disease and genetics, many doctors still do not understand the genetics behind many diseases they treat, said David E. Housman, co-organizer of the workshop and professor of biology at MIT.

"The kindest word to describe the genetics knowledge of a primary care doctor today is "limited", said Housman. "We thought we had to provide practical information for primary care physicians in an intensive conference, unlike any other that had previously been held."

When the hospital surveyed more than 200 practicing physicians, they found that many of them felt uncomfortable discussing genetics with their colleagues and had difficulty reading basic medical journals dealing with genetics.

"It was apparent to me that there is an explosion of genetic information but also a real vacuum of knowledge for the general practitioner," Housman said. "We came to the realization that the family physician should work together with the basic scientist."

Partly accounting for the wide illiteracy was the lack of emphasis of the relatively new field of gene-related medicine in the medical school curriculum 10 to 20 years ago, when most of today's practitioners graduated.

"Medicine has changed dramatically since the time I graduated from medical school ten to thirteen years ago," said course participant Dr. Kelly L. Armstrong, a general internist practicing in Springfield, Mass. "There are genetic concepts and tests which exist today that had not even been invented back then."

For example, one technique physicians learned at the workshop was to administer folic acid to a mother there months before and after pregnancy to reduce the risk of spinal disorders, Armstrong said.

The course also educated physicians about the support groups for genetic disease victims and the role of genetic counselors, who advise parents on genetic testing, help them decide whether or not to have children and help them cope with the stigma of being a disease carrier.

One of the highlights of the workshop was a keynote address given by Dr. Francis S. Collins, director of the National Center for Human Genome Research, is which he discussed the future of genetics medicine and the progress being made with the Human Genome Project.

"Basically, we are doing this research because it's good for human health in a very profound way," he said. "By 2005, we expect to have the entire sequence of human DNA. This project has been underway for four years and we are both under budget and ahead of schedule."

But Clark cautioned about being too optimistic, citing the difficulties in using this human genome data.

"Even when we have the entire human genome, it will be like having complex set of house plans without knowing how to use hammers and nails" he said.

Most attending physicians said they found the workshop worthwhile.

Dr. Robert J. Pinkel, rheumatologist and clinical assistant professor of medicine at the Medical College of Ohio, said. "[The cursively relevance is filling in the basic since I graduated twenty-nine years ago. I need to know this to keep up with modern research in my own field."

Sandra Park contributed to the reporting of this article.

And 25 percent of the cases of familial hypertrophic cardiomyopathy are transmitted genetically, said Dr. Christine Seidman, associate professor of medicine at the Medical School and director of the Cardiovascular Genetics Center at Brigham and Women's Hospital.

But despite discovery of increasing links between disease and genetics, many doctors still do not understand the genetics behind many diseases they treat, said David E. Housman, co-organizer of the workshop and professor of biology at MIT.

"The kindest word to describe the genetics knowledge of a primary care doctor today is "limited", said Housman. "We thought we had to provide practical information for primary care physicians in an intensive conference, unlike any other that had previously been held."

When the hospital surveyed more than 200 practicing physicians, they found that many of them felt uncomfortable discussing genetics with their colleagues and had difficulty reading basic medical journals dealing with genetics.

"It was apparent to me that there is an explosion of genetic information but also a real vacuum of knowledge for the general practitioner," Housman said. "We came to the realization that the family physician should work together with the basic scientist."

Partly accounting for the wide illiteracy was the lack of emphasis of the relatively new field of gene-related medicine in the medical school curriculum 10 to 20 years ago, when most of today's practitioners graduated.

"Medicine has changed dramatically since the time I graduated from medical school ten to thirteen years ago," said course participant Dr. Kelly L. Armstrong, a general internist practicing in Springfield, Mass. "There are genetic concepts and tests which exist today that had not even been invented back then."

For example, one technique physicians learned at the workshop was to administer folic acid to a mother there months before and after pregnancy to reduce the risk of spinal disorders, Armstrong said.

The course also educated physicians about the support groups for genetic disease victims and the role of genetic counselors, who advise parents on genetic testing, help them decide whether or not to have children and help them cope with the stigma of being a disease carrier.

One of the highlights of the workshop was a keynote address given by Dr. Francis S. Collins, director of the National Center for Human Genome Research, is which he discussed the future of genetics medicine and the progress being made with the Human Genome Project.

"Basically, we are doing this research because it's good for human health in a very profound way," he said. "By 2005, we expect to have the entire sequence of human DNA. This project has been underway for four years and we are both under budget and ahead of schedule."

But Clark cautioned about being too optimistic, citing the difficulties in using this human genome data.

"Even when we have the entire human genome, it will be like having complex set of house plans without knowing how to use hammers and nails" he said.

Most attending physicians said they found the workshop worthwhile.

Dr. Robert J. Pinkel, rheumatologist and clinical assistant professor of medicine at the Medical College of Ohio, said. "[The cursively relevance is filling in the basic since I graduated twenty-nine years ago. I need to know this to keep up with modern research in my own field."

Sandra Park contributed to the reporting of this article.