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Mai Phuong, MD
Oncology, UPMC

If you were at increased risk for cancer, would you want to know? By 2040, the number of new cancer cases per year is expected to rise to 29.5 million according to the International Agency for Research on Cancer. While there are many factors contributing to the rise in cases, it’s important to note that mortality rates continue to trend downward. Cancers are being detected earlier leading to earlier intervention and treatment which improves outcomes.
Genetics and Cancer

While regular screenings and checkups with your provider are still the gold standard for cancer detection, genetic testing is seeing a rise in use. Normally, certain genes help keep cancer from forming by controlling how cells grow and react to the body’s signals. When DNA changes accumulate in several of a cell’s genes, the cell stops behaving normally. It then reproduces itself uncontrollably, growing into — what we call — a cancer.

Some people inherit a DNA change in a cancer-associated gene from a parent. A change in a cancer-associated gene won’t cause cancer by itself. Having an altered cancer-associated gene doesn’t mean you’re certain to get cancer. For a cell to become cancerous, it requires changes to the DNA of a number of genes. These changes required for cancer to develop may not ever occur. But, this inherited DNA change does place you at a higher-than-average risk of certain types of cancer.
Benefits of a Telegenetics Consultation

If you are concerned about possibly getting cancer in your lifetime due to a family or personal history, you can find value in the consultation. One of the major reasons to consider a cancer risk assessment consultation is having two or more relatives on the same side of the family with the same kind of cancer or related cancers, such as ovarian, breast, or colon cancers.
Other reasons to consider a cancer risk consultation include a family or personal history of:
– Cancer, such as breast or colon, that occurred before the age of 50.
– Primary cancers in both breasts or kidneys.
– Two different primary cancers — such as primary breast and ovarian cancers, primary breast and colon cancers, or primary uterine and colon cancers.
– A rare cancer — such as male breast cancer, adrenal gland cancer, retinoblastoma, medullary thyroid cancer, or pheochromocytoma.
– A cancer that has a higher likelihood of being related to a genetic cause, such as ovarian, pancreatic, or metastatic prostate cancer.
– A known change in a cancer predisposition gene.
What to Expect at a Telegenetics Appointment

Before your appointment at the UPMC Hillman Cancer Center in Williamsport, it is suggested that you come prepared with the information about your family’s medical history related to cancer. Medical records may also need to be provided to help with the risk assessment. A member of the UPMC Cancer Genetics Program might reach out to you prior to the appointment to collect this information.

When you arrive for your appointment, you will meet in person with the clinic nurse and have a video conference with a geneticist. The geneticist is a physician with specialty training in understanding how human DNA affects the body’s development and how certain genes may increase a person’s risk for certain cancers. They will review the personal and family history with you and discuss cancer risk assessments and whether genetic testing is needed.
During this consultation, your team may discuss how inherited and environmental factors may contribute to the cancer(s) in your family and how cancer risks may affect you and your family. The risks, benefits, limitations, and costs of genetic testing (a blood or saliva test) will also be discussed. Finally, the team will go over the cancer screening options that are recommended for you, either during the visit, or when they call to discuss the genetic test result with you.

Information about services and specialists will also be provided, including cancer screenings, surgery consultation, specialists in cancer risk management, social workers, or nutrition experts.

Having a genetic consult may help relieve any worry about cancer risk and provide a sense of control.

You are not alone in your fight against cancer. At UPMC Hillman Cancer Center, our oncologists are here to help guide you from prevention, early detection, diagnosis, treatment, and everything in between. From our cancer centers in Williamsport, Coudersport, and Wellsboro, Pa., we offer you and your family the resources you need to fight cancer and get back to the life you love.

Mai Phuong, MD, is a medical oncologist with UPMC Cancer Genetics and sees patients via telemedicine, or in Pittsburgh. To schedule an appointment with Dr. Phuong, call 1-800-454-8156. For more information, visit UPMC.com/CancerNCPA.