| 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
- Cardiac Disorders
- Hypertrophic Cardiomyopathy
- Long QT Syndrome
- 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.