Katie Demeria

Katie Demeria, Times-Dispatch staff reporter, RTD

The average American woman has about a 12 percent risk of developing breast cancer during her lifetime.

If she has an abnormal gene — most commonly BRCA1 or BRCA2 — that risk shoots up to 80 percent.

Only about 5 to 10 percent of all cancers are thought to be caused by genetic mutations, according to the American Cancer Society. But because those patients have a far higher risk of developing cancer, knowing that they have a genetic mutation is drastically important.

True Health Diagnostics — a Texas-based laboratory company that about two years ago acquired Health Diagnostic Laboratory in downtown Richmond and now operates HDL’s former headquarters — has started offering tests for hereditary cancers.

The tests will detect whether the patient has any of the 26 genes that indicate they have a greater risk for developing breast, colon, ovarian, pancreatic and other cancers.

“Unfortunately, I’ve had the experience, as a genetic counselor, of working with people for whom it was too late, who didn’t get the testing until they had very advanced cancers and, unfortunately, did not survive,” said Ann Jeffers-Brown, clinical education manager with True Health.

Most national cancer organizations have guidelines dictating who should have a test done to determine whether there are any gene mutations. Patients typically must have a history of many family members developing multiple cases of one cancer, or some cases of a very rare cancer.

Developing cancer before age 50, also known as early onset cancer, is often a strong indication that a patient has a genetic mutation.

Hereditary cancer tests first became available in the 1990s, Jeffers-Brown said, and the guidelines surrounding them were extremely strict.

“No one understood that there could be any changes that would affect the outcome,” she said. “They could be giving someone bad news without knowing what to do about it. But that’s no longer true.”

Women, for example, who find out they have the BRCA1 or BRCA2 genes have options available, such as receiving a double mastectomy to help prevent breast cancer and receiving a hysterectomy to prevent ovarian cancer.

Ovarian cancer is especially difficult to detect, and about 70 percent of ovarian cancers are not detected until they progress to stage 3, which typically means the cancer has spread and the prognosis is poor.

Today, hereditary cancer tests are more widely available, should the patient’s family history warrant them.

While some advocate that all patients — particularly women — should receive hereditary cancer tests, not only is cost a barrier, but leading cancer organizations currently do not suggest such broad testing practices in their guidelines.

There are other things to keep in mind, even when a cancer seems to run in a person’s family.

The National Cancer Institute’s website notes that sometimes shared environmental factors, such as smoking or a prevalence for obesity, can influence what types of cancer someone develops.

Additionally, having a genetic mutation does not guarantee that a person will develop a particular cancer.

“This is obviously not something to be taken lightly,” Jeffers-Brown said. “It’s powerful information.”

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Twitter: @katiedemeria

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