Genetic Testing for Disease: Patients Should Seek Counseling Before Screening With a Gene Test

Genetic testing for disease holds implications for future screening, health insurance, and even family dynamics for patients.

The mapping of the human genome has expanded our knowledge of hereditary diseases and has allowed doctors to administer genetic screening tests to determine someone’s risk of developing certain diseases. However, genetic screening is one area where the ethics haven’t caught up with technology. The availability of advanced genetic testing doesn’t mean that everyone should rush to receive these tests without considering the consequences that the newly gained knowledge can bring.

What is Genetic Testing?

Each cell in our bodies carries thousands of genes, which act as a blueprint to direct the cell in its manufacture of proteins. These blueprints are passed on from generation to generation and determine which traits we inherit from our parents. In the process of genetic testing, doctors can look for abnormalities in a patient’s genes by examining DNA samples. These abnormalities may act as triggers for the possibility of developing certain diseases, like cancer or diabetes.

Benefits of Genetic Screening Tests

When a patient discovers he doesn’t carry the abnormal genetic marker for a particular disease, the sense of relief can be profound. Conversely, if the test yields positive results, a patient can map out a plan of action with his doctor to implement a prevention or screening regimen for the disease. For a disease like colon cancer, this may mean getting frequent colonoscopies. For something like diabetes, the doctor may recommend weight loss or other lifestyle changes.

Risks of Genetic Testing for Disease

Receiving a negative result for a genetic screening test doesn’t mean that the patient will never develop the disease for which he was tested for. If the patient doesn’t carry a certain abnormal gene marker, he may have the same risk of developing the disease as the rest of the population. Furthermore, there may be some genetic aberrations that researchers haven’t yet discovered.

Receiving a positive result following a genetic disease test can cause a great deal of stress for the patient. Patients who carry a genetic marker for a disease that has no known effective prevention strategies may feel heightened anxiety. Family members who chose not to receive genetic testing may not want to deal with the results of a close relative’s test results.

The ethics of genetic testing for disease are particularly murky pertaining to employment and health insurance discrimination. A positive test can stigmatize a patient as belonging to a high-risk group, when in fact a genetic marker doesn’t always guarantee the patient will develop the disease. A qualified genetic counselor should discuss these concerns and others to help patients make an informed decision about testing.


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