Genetic Testing

A chance comment made during a routine medical exam changed April Riddle’s life forever. Her mother visited a new gynecologist and mentioned that several people in her family had breast cancer and ovarian cancer. Although she had no symptoms, the doctor strongly recommended a blood test to screen for the presence of an inherited BRCA1 and BRCA2 gene mutation. When present, these mutations greatly increase a patient’s lifetime risk for developing breast cancer and/or ovarian cancer.

April’s mom was hesitant to be tested given that no one in her family had been diagnosed with a gene mutation, and her insurance would not pay the $3,400 for the blood test. Despite this, she decided to move forward with testing and received a positive result for the BRCA2 genetic mutation.

Identifying Your Cancer Risk?

By Marcia Swearingen

Understanding BRCA1 and BRCA2

BRCA1 and BRCA2 (breast cancer susceptibility genes 1 and 2, respectively) are normal human genes that belong to a class of genes known as tumor suppressors. In normal cells, BRCA1 and BRCA2 help ensure the stability of the cell’s genetic material (DNA) and help prevent uncontrolled cell growth. However, the mutation of these genes has been linked to the development of hereditary breast and ovarian cancer.

Other cancers which may occur with increased frequency due to these genes include prostate, pancreas, gall bladder, bile duct, colon and melanoma, as well as breast cancer in men.

Because her mother’s test was positive, there was a 50/50 chance that April had inherited this abnormality, so her insurance company covered the cost of her test. When she learned she also carried the BRCA2 gene mutation, April was referred to an oncologist for counseling.

“I was told by my doctor that because of the presence of this mutation, my chance of developing breast cancer or ovarian cancer from birth up to age 70 was high,” April recalls.

Since she was not planning on having any more children, her physician recommended a hysterectomy and oophorectomy (removal of ovaries) to prevent ovarian cancer, which is harder to monitor. To protect against breast cancer, April had a choice: she could take tamoxifen, an estrogen blocker, and get an MRI of the breast every six months or she could elect to go ahead and have a mastectomy with reconstructive surgery as a precaution. Fortunately, her health insurance provider would cover either option.

“I thought about it and decided to do the hysterectomy and the mastectomy with reconstruction,” April explains. Her primary concern was for her sons Luke and Noah, ages 13 and 11, who lost their dad, Cal, three years earlier to malignant melanoma at age 37. She couldn’t take the chance that her boys might lose a second parent. “I decided that I was going to do all that was possible to make my chances (of developing cancer) the least they could be,” she says.

According to Dr. Cathy Stevens, director of genetic services at Erlanger Hospital and the area’s only board certified medical geneticist, only seven percent of all breast cancer cases and 10 percent of all ovarian cancer cases are attributable to BRCA gene mutations. However, for one in every 500-1,000 persons with BRCA gene mutations, there is an 85 percent chance of developing breast cancer by age 70, and the risk of developing ovarian cancer by age 70 is 63 percent for the BRCA1 gene mutation and 27 percent for the BRCA2 gene mutation.

“Most genetic forms of cancer strike earlier,” says Dr. Stevens. “We are more concerned about women diagnosed with breast cancer under the age of 50.”

Besides early onset, other possible indicators for cancers caused by BRCA gene mutations include multiple tumors (in one or both breasts), ovarian cancer at any age, male breast cancer, or multiple relatives with breast, pancreatic, prostate or skin cancers. Also, the incidence of BRCA gene mutations in Jewish women of Eastern European descent (Ashkenazi) appears to be five times greater than women in the general population.

Dr. John Nelson, a board certified radiologist and medical director at Battlefield Imaging, says he refers younger patients diagnosed with breast cancer to Dr. Stevens for genetic counseling and possible BRCA testing to help them make decisions about what kind of treatment to pursue.

“The women who are at an increased risk for carrying the BRCA1 and BRCA2 genes need to know that,” Dr. Nelson says, “because their lifetime risk for either recurrent breast cancer or breast cancer in the other breast and ovarian cancer is going to be much increased if they are a BRCA carrier.” Additionally, if a woman has several children – particularly female children – they need to be screened and then monitored if they have inherited mutations in the BRCA1 or BRCA2 genes.

“We know that women who carry that gene are not only at increased risk for developing breast cancer, but for developing it much earlier in life – even in their 20s,” says Dr. Nelson. “We advise a lot more aggressive and early screening for first-degree relatives of BRCA carriers.”

April also consulted with Dr. Stevens. Even though she has sons, she says that when they turn 18 they will be tested. If they have inherited the gene mutations, they will have between a five and ten percent chance of developing breast cancer and a 20 percent chance of having prostate cancer. There is also the chance that the gene mutations may be inherited by their offspring. If April’s sons test negative, their risks are no greater than the general population and they do not have to worry about passing the gene mutation to their children.

 The Genetic Testing Process

When a patient first comes to Dr. Stevens for genetic counseling, a detailed family history of three generations or more is taken. Based on that history, Dr. Stevens calculates the chance that the BRCA1 or BRCA2 gene mutation may run in the family. Depending on a patient’s likelihood of inheriting these gene mutations, genetic testing is offered and possible outcomes discussed. If, as in April’s case, the test is positive, the patient is referred to an oncologist to discuss risk management options.

If there is a strong family history of cancer, but no previous testing of family members, a negative test is not considered a “true negative” and monitoring over time is recommended. That’s because there is no way to tell if the patient has a harmful BRCA1 or BRCA2 mutation that was somehow not detected by testing or whether the result is truly negative. Also, it is possible for someone to have a mutation in another gene other than BRCA1 or BRCA2 that can increase their cancer risk, but is not detectable by the BRCA test.

If a previous family member has tested positive and a patient’s test comes back negative, then it is considered a “true negative.” That person would fall in the favorable 50 percent of relatives who do not inherit the gene mutation.

If genetic testing shows a change in BRCA1 and BRCA2 that has never been associated with cancer, the test is considered uncertain. Because everyone has genetic differences that are not associated with an increased risk of disease, it is sometimes not known whether a specific DNA change affects a person’s risk of developing cancer.

Whether a person receives a positive or a negative result, there are many benefits to genetic testing. Certainly, a negative result can offer a sense of relief. A positive test result can allow people to make informed decisions about their future, including taking steps to reduce their cancer risk. In the long run, knowledge about your cancer risk gives you the power to make informed health care decisions.

 Insurance Options

The cost for BRCA1 and BRCA2 mutation testing usually ranges from several hundred to several thousand dollars. Insurance policies vary with regard to whether or not the cost of testing is covered. People who are considering BRCA1 and BRCA2 gene mutation testing may want to find out about their insurance company’s policies regarding genetic tests.

“Many insurance carriers have guidelines for family history,” says Jill Pouncey, MS, a genetic counselor at Erlanger. “A person may have to have a certain number of affected family members in order for the test to be covered.”

Currently, 17 state Medicaid programs will cover BRCA testing; however, at this time Georgia Medicaid and TennCare will not. Medicare will cover testing for individuals who meet certain criteria. In some cases, financial aid may be available through a testing lab, but not if an individual is covered by Medicaid or TennCare.

Privacy and Insurance

Because a person’s genetic information is considered health information, it is covered by the Privacy Rule of the Health Information Portability and Accountability Act (HIPAA) of 1996. The Privacy Rule requires that health care providers and others protect the privacy of health information, sets boundaries on the use and release of health records, and empowers individuals to control certain uses and disclosures of their health-related information. Many states also have laws to protect the privacy and limit the release of genetic and other health information.

In 2008, the Genetic Information Nondiscrimination Act (GINA) became federal law. GINA prohibits discrimination based on genetic information in relation to health insurance and employment, but the law does not cover life insurance, disability insurance and long-term care insurance. When applying for these types of insurance, people may be asked to sign forms that give an insurance company permission to access their medical records. The insurance company may take genetic test results into account when making decisions about coverage.

Some physicians keep genetic test results out of medical records. However, even if such results are not included in a person’s medical records, information about a person’s genetic status can sometimes be gathered from that person’s family medical history.

It is worth noting that April Riddle did not experience an increase in her health insurance rates as a result of genetic testing, and her mother’s health insurance policy retroactively paid a portion of the cost for the original test that may have saved April’s life.

April offers words of wisdom and advice to anyone considering genetic testing for BRCA gene mutations: “Be proactive. Check yourself. People know their own bodies. Get things checked out until you are satisfied with the answers you’ve gotten, even if you have to get a second opinion. Early detection is always better. As soon as you know something’s not right, go get it checked.”

Marcia Swearingen has lived in Chattanooga for 30 years. She has a Bachelor of Science degree in Journalism from the University of Tennessee at Knoxville and is currently a board member of the Chattanooga Writers Guild. Marcia and her husband, Jim, have one daughter and live in Hixson.