June 2000 • Volume 6 • Number 6
What role will FPs play in the genetics revolution?
BY CINDY McCANSE
Lake Buena Vista. Fla.Patients with genetic disorders need a physician who can both treat their everyday health problems and apply the latest research findings to meet their special needs. In other words, they need someone like a family physician, said genetics researcher Holmes Morton, M.D.
Morton came to Strasburg, Pa., more than a decade ago to translate his genetics work into applied pediatrics. He chose an isolated setting and, with the aid of its Amish and Mennonite communities and others, created the Clinic for Special Children.
Morton gave the Blanchard Memorial Lecture at the May 3-7 Society of Teachers of Family Medicine annual spring conference. He told nearly 1,000 physicians of his experiences since leaving Johns Hopkins University in Baltimore to care for a rural population disproportionately affected by genetic disorders due to a tradition of intermarriage.
Morton said that in many ways, these patients are little different from any others: "We have children coming in with ear infections, with vomiting and diarrhea, with all those curses of childhood that you struggle with."
The difference lies in limiting the effects of these common ailments on the genetic condition, he said. "Those illnesses have a tremendous impact on an underlying disease such as maple syrup (urine) disease. You must control the underlying biochemical disorder in the context of primary care illnesses or those children lapse into coma, suffer neurologic injury and are disabled."
"It always surprises physicians when I say that of the 60 to 70 disorders I've seen in the past 12 years in Lancaster, I consider them to be no less treatable than what you see every day in your office," Morton said. He bases this on a survey he did that's similar to one done by the author of the classic resource Cecil Textbook of Medicine in 1929. Russell Cecil surmised that about 20 percent of disorders known at the time were invariably fatal, 20 percent were easily treatable and the remaining 60 percent required extensive management to effect a positive outcome. Those same proportions, Morton said, apply to the genetic problems he works with.
"About 20 percent are lethal; there's nothing I can do," he said. "But these children, regardless of the fact that they may only live six or 12 months or two years -- they still have problems. They still get ear infections, they still get colds, they still have fever, they still need care."
But he focuses most efforts on that middle 60 percent of patients.
"Caring for a child with maple syrup disease is hard work," he said. "It requires a level of care -- a level of understanding -- that is very similar to care of a child with diabetes. With good care, access to care during intercurrent illnesses, early detection and access to hospital care when needed, we can tremendously limit the effect of that disease on the child's life."
Ultimately, Morton said, recognition of disease by primary care physicians is the key to helping patients with genetic disorders. "It requires a physician who cares for them, knows them and brings them to the attention of physiologists who know about these systems. It requires a physician who helps translate the information these researchers have into meeting the needs of the child. That's my role, and that's your role, too."
In a later breakout session, family physician Nancy Stevens, M.D., M.P.H., stressed the importance of injecting the family practice perspective into genetic medicine.
"We really need to get into the dialogue of genetics as quickly as we can because our perspective is underrepresented in these conversations, and as a result, our patients' perspectives are underrepresented," said Stevens, a faculty member at the University of Washington.
Stevens described her work on an expert panel convened by a Washington state HMO charged with creating guidelines for BRCA1 gene testing. Mutations in the BRCA1 gene have been associated with hereditary breast/ ovarian cancer syndrome. During her tenure on the panel, Stevens came to realize that the usefulness of this testing is severely limited because the "cure" may be worse than the disease.
The only patients who stand to benefit from BRCA1 testing are those from high-risk families in which a family member has cancer caused by the gene mutation. If the individual gets tested and doesn't have the defect, the risk is dramatically reduced. "That," Stevens said, "is a useful test. But if you go through the testing and you have the gene, then you're really in trouble because nobody knows what to do."
Currently, the only management strategy for women who test positive is prophylactic removal of the breasts and ovaries. Even then, there's no guarantee that cancer won't develop -- just as there's no guarantee that it will.
"Why do we want to prevent the cancer?" Stevens asked. "So these women will have a life. But what if they lose their chance for a reproductive life? What if you do the testing in a 19-year-old woman and it's positive? There's a lot of life between then and the time when she might develop cancer."
FP Report is published by the AAFP News Department.
Copyright © 2000 by American Academy of Family Physicians.
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