Twenty years ago Clair Francomano was a medical student, plunging into the biology of wayward genes that produce inherited diseases. From textbooks and lectures, she focused on achondroplasia, a genetic disorder of bones and cartilage that produces short stature, or dwarfism.
And then she went to a convention of the Little People of America, the organization of people with this condition, and met a family she's been involved with ever since.
"With this family I definitely made connections," recalls Francomano, now head of medical genetics and clinical director of the National Human Genome Research Institute at the National Institutes of Health. "The parents were about my age. They had a tiny baby in their arms. She was going to school. He was working." Diagnosis: achondroplasia. They were 4-foot-4 and 4-foot-8. "The baby was healthy but was obviously going to be short."
Through this family, Francomano entered a new kind of medical training in which she could more directly experience what it was like to have this genetic twist of fate. "We became friends," she says.
This is the intimate connection in medical research. Behind the test tube, the microscope, the mathematical equations and densely written research papers is often a personal story that links science to the human condition. It is where researchers like Francomano get their energy and passion to do more studies on a disorder and ultimately find ways to heal the illness and disability that may result.
It is also a reality check on where medicine is heading--or should be heading.
For Francomano, the intimate connection even changed how she defined "disease." Should her patients--her friends--be labeled sick? Or just short? What kind of treatment did they need? And as the field of prenatal genetic testing advances, should parents be screened for this "genetic defect"?
Francomano bristles at this last suggestion as do her friends with achondroplasia. Being short is not a disease, she points out. People with this disorder lead full lives. "There are very few things they can't do with a little assistance," she says. "What's a disease? What's a fact of life?"
Yet the condition is highly variable, and it leads to disabilities for some people. The husband was one. He suffered serious back problems and had to undergo surgery to decompress the nerves on his spine. The operation did not go well; afterward he was paralyzed.
"It was devastating, just awful," Francomano recalls.
The husband developed psychiatric problems and the couple separated. A few years later, he died from complications of the disorder.
For all the new research on this genetic condition, there was little Francomano could offer him. "It makes the fact that we're so far away from a cure to deal with the medical problems much more frustrating," she says.
Yet, there are some treatments to make people with achondroplasia taller by lengthening their bones. Some parents, especially those of average height, favor these procedures for their children who have the condition. But Francomano is uneasy about this.
"It's a dilemma. We want to minimize the disability. We want to give people choices," she says. "The whole question--is the goal to increase height or reduce the morbidity that results from the disorder?--has become very personal for me."
The intimate connection means that scientists are less likely to jump to quick or easy answers. And what is clear in a culture of cells or technically feasible in the operating room is not always relevant when the researcher looks at the face of the patient.
What is the benefit of the researcher's discovery? Does it improve the patient's lot? This is especially poignant in the field of genetics and genomics, where new genes get discovered daily, more and more tests are developed to detect a range of diseases and people seem insatiable for information about themselves.
As a leader in her field, Francomano is aware of the hubris of advocating science for science's sake.
She warns of the "therapeutic gap" in genetics where the amount of raw data about traits and diseases far outstrips the ability of medical science to prevent or treat illness. She raises the question: "Do people want this information when there is nothing they can do about it?"
Meanwhile she keeps up with the wife and daughter with achondroplasia.
After the husband died, the wife went back to school and earned a college degree. She now counsels students with disabilities. The daughter is a self-assured and articulate college student. "You get involved with them. You feel the pain as well as the joy in their lives," says Francomano.
Scientists who stay behind their white coats and only deal with tissue cultures and computer printouts are missing an important ingredient in their work. A genetic disorder or an illness is only part of a person's identity. Through the intimate connection, researchers can see patients in their entirety.
That changes the medical agenda from merely assigning a diagnosis and prescribing therapy to helping people heal and manage their lives. As Francomano says: "The most important thing to do is to make them feel comfortable with who they are."
In the process, medical science is humanized.