The Value of Genetic Testing

Genetic testing can provide patients and physicians with valuable information that can result in early detection and more effective treatment or even disease prevention.

The field of genetic testing is advancing at a rapid pace. Today, it can be used to confirm a diagnosis of cystic fibrosis or Huntington’s disease, detect some types of abnormalities in fetal DNA and help determine what medication and dosage will be most effective for a specific patient.

If you have a family history of a genetic condition, pre-symptomatic and predictive genetic testing may also show if you are at risk for developing a certain disease, such as some types of cancer.

Why consider genetic testing?

“Genetic testing empowers patients and their families to proactively treat, prevent and screen for different types of cancers,” explained Melissa M. Hilliard, PA-C, CGRA, a board-certified physician assistant at Penn Highlands General Surgery in DuBois who is cancer genetics and risk assessment certified. “If genetic testing leads to an earlier diagnosis, this can lead to better outcomes and increased survival.”

Individuals who undergo pre-symptomatic genetic testing receive a personalized risk assessment that allows the patient and physician to arrange and monitor risk-reducing strategies. For patients who already have a cancer diagnosis, genetic testing can also help the physician coordinate potential treatments, such as surgeries, in advance.

Many patients note that the testing also provides relief from anxiety and uncertainty surrounding their potential risks and the looming threat of advanced disease if not diagnosed at an early stage.

What does it test for?

There are a variety of panels and genes that can be tested depending on a patient’s personal and family history.

“The tests ordered are customized to suit the needs of each individual,” said Ms. Hilliard. “Based on the individual’s family history, the panel focuses primarily on cancer genetics and tests for cancers affecting the breasts, colon, pancreas, uterus, ovaries, kidneys and thyroid, as well as melanoma and leukemia.”

Who should get tested?

Genetic testing may be recommended for people who have already had certain cancers or people with certain patterns of cancer in their family history. In addition, candidates for genetic testing may include those with a personal or family history of:

• Breast cancer at a young age (before age 50)
• Bilateral breast cancer
• Ovarian, primary peritoneal, fallopian tube or male breast cancer
• Breast or ovarian cancer in addition to Ashkenazi Jewish ancestry
• More than 10 colon polyps in their lifetime

How is genetic testing performed?

Genetic testing is usually done through a saliva or blood sample.

“Both methods are equally accurate, so testing is often done by a simple saliva sample, unless there is a health issue that requires a blood sample, such as a history of radiation to the head or neck or Sjögren’s Syndrome,” said Ms. Hilliard.

It takes about two to three weeks for the results to come back. At a follow-up appointment, the provider will discuss the results and next steps if needed, such as risk-reduction strategies for those who test positive for any of the genes.

Genetic testing can be an excellent tool, but it may not be for everyone. Some results can be inconclusive and may increase stress and anxiety. Before taking the test, talk with your health care provider and consider genetic counseling, which will help you explore whether testing is right for you.

Penn Highlands General Surgery in DuBois offers genetic testing and counseling services for hereditary cancer. By having the testing, people at high-risk over age 18 are empowered to proactively treat, prevent and watch for symptoms of different types of cancers. To learn more, visit www.phhealthcare.org/genetictesting.