Knowledge is Power

Genetic testing provides insight into inherited health risks

At Providence Saint Joseph Medical Center’s Breast Health Center, women who sign up for their regular mammogram also get the chance to find out if they have an increased risk of breast cancer and other inherited cancers through an innovative program called Comprehensive Assessment, Risk and Education (CARE).

“The purpose of the program is to identify and protect women who are at a greater risk of developing not only breast cancer but many other cancers as well,” says Ora Gordon, M.D., executive director of cancer services at Providence Saint Joseph’s Disney Family Cancer Center and Saint John’s Cancer Institute.

In the three years since the CARE program was launched, nearly 14,000 members of our community have been screened to help get a clearer picture of their personal and family health history, and consistently about 30 percent screen positive for a risk of inherited cancer types. More than 600 have utilized our on-site genetic testing to determine whether they are at elevated risk for any cancer types.

When you schedule your regular mammogram, you will receive a questionnaire via your smartphone or email. If you choose to answer the questions, the survey will automatically calculate whether or not you may have an inherited cancer risk.

Most people have heard of the BRCA gene mutation, which puts women at risk of developing breast or ovarian cancer. But many other cancers, such as pancreatic and colon cancer, have a hereditary component.

The questions focus on family history—your mother’s and your father’s family health histories—as well as personal risk factors such as breast density on past mammograms, height and weight, body mass index (BMI), and whether or not you have had a previous biopsy and what was found.

If your answers indicate that you may have a significant risk of hereditary cancer or a high risk of developing breast cancer, then you are offered genetic testing—which is insurance-covered and entails nothing more than giving a small saliva sample. This doesn’t require leaving the building or returning on a different day.

“If genetic testing is recommended, it can all be done the same day,” says Kim Childers, senior manager of genetics counseling at the Providence Center for Clinical Genetics and Genomics. “We’re trying to reach healthy people with busy lives who don’t necessarily have the time to make another appointment or seek out genetics. They’re already coming for their mammogram, they’re in the headspace of preventive care, and all they have to do is walk down to our genetics clinic and give a blood or saliva sample.”

With results usually back within a month, patients don’t have to wait long to find out. If results are negative—as most are—you can put it out of your mind.

But if you learn that you do have a mutation, or a change in gene for certain cancers, you will have a comprehensive in-person or telemedicine appointment to review risk and management options, says Dr. Gordon.

Recommendations might include a different screening with a breast MRI or more frequent colonoscopies, for instance, or that you start taking preventive medication or consider undergoing risk-reducing surgery. (Some women who learn that they are carriers of a BRCA or other high-risk mutation opt for preventive mastectomy.)

The CARE program is an exciting opportunity to prevent or treat cancer early for a large number of women. Identifying one of these gene mutations empowers patients to monitor their health and take potentially lifesaving preventive measures.

“If you have a high genetic risk for colon cancer, for instance, you would get a colonoscopy once a year and start taking aspirin,” says Dr. Gordon. Aspirin has been shown in studies to decrease the risk of developing colon cancer.

The more people who undergo a risk assessment and genetic testing when appropriate, the more they can be spared the consequences of developing cancer. The CARE program has helped identify more than 2,000 women in the Burbank area who have an elevated lifetime risk for breast cancer based on their various personal factors. They were recommended to undergo enhanced surveillance, such as breast MRIs, for improved early detection.

“Our goal is to reach every woman at risk before they present with cancer or a second cancer,” says Dr. Gordon. “We are looking for every way we can to reduce barriers to make that happen.”

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