Is Genetic Testing for me?

Genetic Testing

Our genetic testing program empowers patients over age 18 and their families to proactively treat, prevent, and watch for symptoms of different types of cancers. Based on the individual’s unique genetic pedigree, the panel focuses primarily on cancer genetics as it tests for cancers affecting the breasts (including for males), the colon, pancreas, uterus, ovaries, kidneys and thyroid, as well as melanoma and leukemias. To undergo testing, patients need a referral and then can build their pedigree online using a secure portal with a username and password that we provide. Genetic testing is usually done via a simple saliva with results typically returning in three to four weeks (except when the patient’s family risk factors dictate a faster turnaround).

The genetics program at Penn Highlands Healthcare is offered through Dr. Kelley Smith’s general surgery practice and led by Melissa Hilliard, PA-C, who studied at Bucknell University and obtained board certification from the National Commission of Certification of Physician Assistants. Hilliard holds a certificate of achievement from Harvard University’s medical school in cancer genomics and precision oncology and is actively working toward a certification in Cancer Genetics and High Risk Breast Assessment through the National Consortium of Breast Centers.

Download the Genetic Test/Council brochure located in the resources sidebar.

Who should get Tested?

Those who:

  • Have a personal or family history of multiple related cancers
  • Have a personal or family history of breast cancer at a young age (before age 50)
  • Have a personal or family history of bilateral breast cancer
  • Have a personal or family history of ovarian, primary peritoneal, fallopian tube, or male breast cancer
  • Have a personal or family history of breast or ovarian cancer along with Ashkenazi Jewish ancestry
  • Have had more than 10 colon polyps in their lifetime

Patients in a high-risk category for cancer can be referred directly to Penn Highlands General Surgery, where they meet with the staff to discuss what can be gained from genetic testing and the limitations of the results. The initial visit also involves discussions on insurance coverage, the physiology of the genetic mutations, completion of a family history pedigree, review of consents and the patient’s protection under the Genetic Information Nondiscrimination Act.

Once the results of the initial appointment are finalized, the providers will develop risk models and provide the patient with the results as well as a copy of his or her reports. The results will be reviewed and the options for management will be discussed. Patients with negative results will have their risk of cancer calculated to determine the appropriate management strategies

Why get Testing?

The best reason for the genetic testing is that there are multiple options for advanced management if a diagnosis is discovered through the testing, as opposed to finding out about a cancer diagnosis once symptoms present.

Those who are tested in advance have a personalized cancer risk assessment that allows the patient and his or her physician to monitor the patient’s health and the ability to arrange risk reducing strategies. For those with a diagnosis, the testing also helps the patient and his or her physician to discuss and 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 of cancer and the looming threat of advanced disease if not diagnosed at an early stage.

Through the collaboration, Penn Highlands General Surgery is also able to provide patients with direct access to a genetic counselor.

What are we Testing 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.

How is the Sample Collected?

Collection can be done via a saliva or a blood sample. Both methods are equally accurate. Most often, we start with a saliva sample unless there is a health issue that requires a blood sample (for example, a history of radiation to the head or neck, Sjogren’ Syndrome).

The tube is sent for genetic testing. It takes about two to three weeks for the results to come back. A follow-up appointment is scheduled to discuss the results and additional treatments, as well as risk reduction strategies for those who test positive for any of the genes.

The staff at Penn Highlands General Surgery is excited to offer these types of advanced cancer-fighting services in our region so that patients no longer have to travel for the peace of mind that genetic testing can provide.

For more information, talk to your family physician or contact the Penn Highlands General Surgery office at 814-375-4000.

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