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