A simple cancer test that could save your life

Cancer is the second leading cause of death in the United States, according to the American Cancer Society, and about 10 percent of those cancers are caused by inherited gene mutations that increase risk. Unfortunately, millions of those people have no idea they are at risk, and Cape Codders are no exception.

“We fit right in with the rest of the country,” said Nancy O’Connor, nurse practitioner in charge of genetic testing at Cape Cod Healthcare Breast Surgery - Hyannis. “More and more people are hearing about genetics, but our numbers are still low. About 20 percent of people who meet the guidelines actually go through and have testing.

People who meet the guidelines for genetic testing include anyone who has been diagnosed with breast cancer. They also include anyone who has a family member under the age of 50 with one of the invasive cancers, or three or more family members with a history of breast cancer.

“We really look at all the family members,” O’Connor said. “If one family member had breast cancer late in life, the children do not necessarily need testing.” It is best to test the family member who has had breast cancer.

First degree relatives have a 50 percent chance of having that same gene mutation. The only way to know the risk is by testing. One of O’Connor’s goals is to counsel people who don’t have cancer who might be at high risk so they can be aware of preventive measures. She would also like to see more young people and men get tested. Even though men don’t have female reproductive organs and women don’t have prostates, all of the genes affect men and women equally.

48-Gene Panel

Thanks to actress Angelina Jolie, most people are aware of the BRC1 and BRC2 genes, but those are just two of the genes on the 48-gene panel Cape Cod Healthcare does. Breast cancer, alone, has 11 different genes, O’Connor said. Other cancer genes that can be detected include colon, stomach, prostate, ovarian, uterine, gastric, pancreatic, melanoma and, in recent years, they added thyroid, kidney and early lung cancer to the panel.

The test is as simple as a vial of blood or a swab of saliva, yet O’Connor said there are many reasons people don’t get tested. Some of the reasons she has heard:

• People’s lives are busy.
• People don’t know about the testing.
• Primary care doctors have so much to cover in an office visit that they often don’t recommend testing.
• The definition of “high risk” keeps changing.
• Some people don’t perceive testing as important.
• Some people have other health issues that overwhelm them.
• Some people wouldn’t do anything even if they knew they were at risk.

“I think there are a lot of barriers, so my goal is to try to decrease those barriers,” O’Connor said. “Then, even if they chose not to have testing, it is their informed choice.”

Prevention and Treatment Decisions

It’s especially important for people with genes for cancer that are high-penetrance, like Lynch syndrome with colorectal cancer, or BRC1 and 2 for breast cancer. People with high-penetrance genes are much more likely to develop cancer, she said. For example, for someone with the BRC1 or 2 genes, the cancer risk can be as high as 87 percent. Those patients with the high penetrance gene mutation need aggressive follow-up.

“We know it’s likely they are going to develop cancer so we get them enrolled in the high-risk clinic so there is early detection,” she said. “Heaven forbid, if there is a cancer, it’s caught early so it’s much more treatable.”

Patients with known cancer genes would be screened more often in the future and in some cases medication or even surgery might be options. Prevention is one of the most important reasons for genetic testing, but the tests can also help determine treatment for people who do have cancer.

“We now have more targeted focused treatment for certain genes we know are going to respond a certain way,” O’Connor said. “So, the oncologists and surgeons know how a gene is going to respond. Now it’s recommended that all women with breast cancer do genetic testing.”

In the past, genetic testing was much more expensive, so doctors were less apt to refer patients for it. Now almost all commercial insurances cover the testing and even if a patient has a high deductible the most they would pay out of pocket is $249.

It is very easy for primary care physicians to refer patients for the testing in the Epic medical records software that Cape Cod Healthcare physicians use, she said. All they have to do is go to “orders” and click on “outpatient ambulatory genetics.”