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The Desposito Factor
by Maryann Brinley

The clinical geneticist has witnessed the lightning-fast evolution of the specialty.tning-fast evolution of the specialty.

Franklin Desposito, MD, professor of pediatrics and medical director of the Center for Human and Molecular Genetics, UMDNJ-New Jersey Medical School.

If you suspected that you might carry a worrisome or life-threatening genetic message in your molecules, would you want to know? Is such knowledge powerful or paralyzing?

As the science of molecular genetic medicine moves forward at lightning speed, these kinds of questions are no longer confined to TV soap opera dramas. No one knows this more intimately than Franklin Desposito, MD, a pioneer who has worked in the epicenter of the genetic revolution for five decades. "Genetics is impacting every medical specialty but it's tricky. Very tricky," the pediatrician says.

After all, it's one thing to offer prenatal testing or newborn screening to couples who are worried about birth defects or metabolic disorders, and still another to tell a person that he or she could die suddenly, without warning, from hypertrophic cardiomyopathy. "It will become possible to test for this common gene in a family where there has been an individual diagnosed," explains Desposito. "Siblings with hypertrophic cardiomyopathy may be asymptomatic for years and then suddenly go into cardiac failure or even sudden death." Fortunately, early recognition may allow for medical therapy and other information that may save lives. He is currently developing a program, known as a genetic panel, to test for this adult-onset heart condition, characterized by genetic markers inherited in the dominant fashion: directly from parent to child.

Desposito is the medical director of the Center for Human and Molecular Genetics at UMDNJ-New Jersey Medical School in Newark, a comprehensive genetics service offering the widest range of tests, diagnoses, counseling and management of people at risk, in New Jersey. Through several outreach programs, more than 4,000 patients a year rely on the Center to make sense of the genetic factors of disease. "What's unique about us is the in-house molecular diagnostic laboratory," he explains. Referrals from obstetricians, fetal medicine specialists and physicians are common. Lately, even internists and cardiologists are calling to ask, "Where have you guys been? I've got families here who are looking for answers." Making the genetic connection is everywhere in medicine today.

Fifteen years ago as the race to characterize all the genes in the human system sped up, Desposito took advantage of UMDNJ's basic science and clinical strengths to bring together the resources of three departments - microbiology and molecular genetics, pediatrics, and obstetrics-gynecology - to create the Center. A member of a national committee for health education in genetics, this "top doc" has been the recipient of millions of dollars in research grants. He was also the director of the state's Newborn Screening Advisory Panel and chairman of the American Academy of Pediatrics Committee on Genetics.

"We've certainly changed from what I used to call the 'Atlantic City school of genetic counseling' where the risks of carrying a defective gene were based on mathematical odds which could sound a little like a gambling scenario. "Now we can tell families, 'Yes, you have this risk. Or, no, you are not at risk even though your mother had the condition," Lab work aside, one important tool for his genetic counselors is still old-fashioned: getting a thorough family medical history.

Predictive genetic tests were once confined to rare metabolic disorders but are now expanding to common adult-onset diseases. "We are talking about finding the genes for cancer, heart disease, neurological disorders, diabetes, Alzheimer's and other diseases."

Yet, the ability to translate all this new genetic information to assess a family's relative risks is still complicated. "We may have identified all the human genes but we still don't know what most of them do." And, he points out, in many cases, simply having the gene doesn't guarantee 100 percent that you will develop the disease. Other genes could provide mitigating factors. During a lifetime, environmental triggers might affect the gene and pharmacogenetic agents are being developed to modify the paths of particular diseases like early onset Alzheimer's and some neurological disorders. Desposito also theorizes, "Are there lifestyle changes that could prevent the natural progression of a genetic disease? Could knowing that your risk is higher than the general population change your behavior? That's an interesting clinical research project, isn't it?" he asks. "We all know how difficult it is to change unhealthy habits." Along with early diagnosis and intervention, there are social and psychological implications for families.

"Yes, it's difficult," he says, leaning back in his chair and placing his fingertips together in front of his face in a contemplative gesture. "Let's move forward and identify families and individuals who can be helped. Let's offer options."

He smiles and the sense of his 50 years of experience is palpable. All this genetic information is far less unsettling when you factor in the wisdom of a Franklin Desposito.