Want to know every disease you or your child are at risk of contracting? Genetic testing can detect more than 2,000 medical conditions.
The question is: How badly do you want to know the state-of-the-art information?
Brent Hafen, a genetic counselor at McKay-Dee Hospital, said genetic testing can be used to confirm a diagnosis and guide medical management. It can also determine the risk for a patient to develop a particular disease, guide pregnancy management and decision making, or determine which medications will be of most benefit for an individual.
“As our knowledge regarding the genetic nature of health and disease continues to increase, the availability and usefulness of genetic testing will also increase,” he said.
Dr. Carl R. Gray, a Utah Hematology Oncology physician, agrees — saying that as the technology to detect diseases before manifestation advances, we will likely see an increase in genetic testing.
In the year 2000, Gray said, the human genome project successfully determined the base pair sequencing of the entire human genome. With that information, identifying which diseases are located at base pair sites allows for early detection of a variety of diseases.
“This new information has had enough clinical experience in testing in certain diseases that it has become the standard of care,” he said.
For instance, young breast cancer patients newly diagnosed should have the opportunity to find out if they carry the hereditary BRCA gene, Gray said. A BRCA gene carrier is likely to have faulty or genetically unstable breast tissue and carry a lifetime risk of breast cancer at 90 percent. They also carry a significant risk for ovarian cancer, for which there is no screening available.
“Knowing this information would allow this young breast cancer patient to make appropriate decisions regarding her treatment,” Gray said.
Gray said some radiology departments are identifying high-risk women with a very strong family history who might be carriers of the BRCA gene and then offering this testing even prior to developing breast cancer.
However, with that information comes a great deal of anxiety. Women who have not been diagnosed with cancer now face life-changing decisions such as bilateral mastectomies.
“Again, the standard of care has changed with regards to genetic testing in young breast cancer patients,” he said. “If we do not offer these tests, then we are deviating from the standard of care. My feeling is that this genetic information provides better-informed decisions. Information is power — power to move ahead with care that will ultimately benefit the patient.”
On the flip side, Gray said, it’s wise to seriously consider genetic testing with your personal physician or genetic counselor.
“I think the main issue here is: What am I going to do with this information? Is there enough data regarding this test that will allow me to make informed medical decisions, or am I just gathering information that will cause me anxiety and harm in the long run without a chance for intervention?” he said.
Hafen said it’s important for everyone to know about conditions that run in their families because it can be a starting point for discussing potential genetic testing.
However, when considering genetic testing, it’s important to understand its limitations. A positive result may indicate only the risk a person has of developing a disease at some point in life. In addition, multiple genetic changes in a gene or multiple genes may cause the same condition, so a negative test may only indicate a reduced risk of developing a disease.
“Sometimes a test may find what is known as a variant of unknown significance, meaning that a genetic change was found, but we do not know what it means for the person’s health,” Hafen said.
It’s also important to note that having a genetic test will not harm your medical coverage.
“In 2008, the federal government passed the Genetic Information Nondiscrimination Act. This law prohibits employers from discriminating within the workplace based on genetic information,” Hafen said. “GINA also prohibits health insurance companies from denying coverage or adjusting premiums based on genetic information.”
However, Hafen said, GINA does not apply to other types of insurance such as life insurance or long-term care insurance.