|
The rapid advances resulting from the Human Genome Project
are entering mainstream medicine at a rate unlike any
other medical advance. From the first genetic test available
about 14 years ago (cystic fibrosis, one mutation), there
are currently about 1,000 different tests available. We
can now identify a genetic based problem, some imperceptible,
others quite serious, in about 25 percent of the U.S.
population. Tests for genetic disorders can generally
be grouped into three categories: diagnostic –
used to determine a specific genetic defect in a patient
with symptoms; carrier – used to determine risk
for having a child with a heritable disorder; and predictive
– used to determine increased risk for a disease.
All three categories play a role in the emerging field
of genetic testing for adult onset diseases.
What is an Adult Onset
Disease?
As the term implies, adult onset diseases are those
that tend to manifest themselves after childhood and
adolescence. For example, the major causes of death
and disability for Americans - heart disease, stroke,
cancer, and diabetes - all tend to take their toll during
middle-age and the senior years. Advances in the understanding
of these diseases now allow us to take active steps
to help prevent or minimize the damage associated with
them. The sooner those steps are taken, the more effective
they will be.
The Promise of Adult
Onset Genetic Disease
Everyone is at some risk for the most common adult
onset diseases, but some of us have a genetic predisposition
that puts us at a significantly greater risk. Knowing
that a genetic alteration predisposes a person for developing
blood clots or breast cancer, for example, allows that
person and his/her physician to map out an individually
tailored prevention or treatment plan, even before the
disease is clinically noticeable. In other circumstances,
genetic testing may be the answer to identifying the
cause of an otherwise unexplainable medical event, such
as having an adverse reaction to medication. The key
is using the information garnered through genetic testing
to take proactive steps to minimize harm and to make
informed decisions about how that inheritable disease
may affect future generations.
About the Program
The interdisciplinary Adult Onset Genetic Disease Program
at University Hospital helps identify, diagnose, and
treat adult onset heritable conditions. Staffed by physicians,
genetic counselors, and scientists, the Program provides
patients and their families with a full range of testing,
counseling, support, and treatment options. It is affiliated
with the Center for Human and Molecular Genetics at
New Jersey Medical School, which since 1990 has tested
and counseled thousands of people seeking genetic information.
The Adult Onset Genetic Disease Program focuses on
those diseases and disorders for which there are effective
prevention measures and treatments. Currently, these
conditions are:
- Complications in Pregnancy
- Blood Clotting Disorders
- Hemochromastosis
- Cardiac Disorders
- Hypertrophic Cardiomyopathy
- Long QT Syndrome
- Cancer
- Breast Cancer (BRAC 1 and 2)
- Colon Cancer
This list of conditions is expected to grow rapidly
over time.
Most of the Adult Onset Genetics Program’s patients
are referred for testing by their physician, but patients
can make the decision to be tested on their own. During
the patient’s first appointment, a detailed family
history is taken by a genetic counselor, who will arrange
for the appropriate test. If the test results come back
negative, the patient will be informed via a letter,
which includes a detailed discussion of the implications
of the negative result. When the results are positive
for a mutation, the person is called and asked to return
for a follow-up appointment with a genetic counselor.
The exception to this procedure is testing for cancer
predisposition. In this case, because of the complexity
of both positive and negative results, all results are
presented and discussed in person.
The counselor interprets test results for the patient,
answers any questions, and explains what interventions
are available. Due to the confidential nature of genetic
testing, a copy of the results is given only to the
patient and the referring physician. The patient can
receive treatment from his or her physician or, if desired,
be referred to a University Hospital physician.
|
About
the Program
Printer
Friendly Page
