For informed decision on genetic testing, separate fact from fiction
Teach patients red flags in family history, pros and cons to testing
Hereditary gene mutations and their link to certain diseases have made recent headlines. News is created as researchers discover such genes as BRCA1 and BRCA2, which are associated with an increased risk of breast, ovarian, and prostate cancers.
With the Bethesda, MD-based National Human Genome Research Institute focused on identifying all the genes that are within the human genome, other genes linked to diseases are bound to be uncovered. "This area is exploding," says Louise Villejo, MPH, CHES, director of patient education at M.D. Anderson Cancer Center in Houston.
To determine what patients and their family members needed to learn about genetic cancers and genetic testing, Villejo embarked on a needs assessment about one year ago. The telephone survey, which targeted highly educated cancer survivors, found that knowledge was greatly lacking.
Most people mistakenly thought risk for breast and gynecological cancers were inherited from a person’s mother, and prostate and testicular cancer were inherited from the father, when an altered gene can be inherited from either parent. They also thought that a person would test positive for the cancer gene if he or she had previously had the disease. Actually, a positive test indicates that the person has the gene that puts them at higher risk for developing certain types of cancer.
"There was a lot of misunderstanding about genetics, genetic testing, and genetic cancers. I think patient education managers need to provide very basic, targeted information to different groups," says Villejo.
Multitude of misconceptions
There are many misconceptions, agrees Jill Sawyer, MS, genetics counselor in the department of behavioral science at Houston-based M.D. Anderson Cancer Center. For example, people read in the newspaper that family history is important, and they think they are at a higher risk because several close relatives had cancer.
"One of the first things we must do is help people understand that not all cancers are hereditary," says Sawyer. "In fact, most are not, so we need to help them work through their family history to determine whether or not they are at increased risk."
As genetic testing becomes more readily available through commercial companies, patient education must focus on the limitations, benefits, and problems with current testing.
"The tests are not perfect, and there are a lot of limitations in the laboratory. If a test comes back negative, it could mean there is no altered gene in the family, but it could also be a false negative. Sometimes, testing results in more uncertainty for a family," says Sawyer.
People routinely undergo tests, such as those for cholesterol level. Therefore, most people do not understand the implications of genetic testing, says Michael Green, MD, assistant professor, department of humanities and medicine at the Milton S. Hershey Medical Center at Penn State University in Hershey, PA.
"Genetic tests are different from other kinds of tests that affect apparently healthy people. The information can be used to help or to harm people," he says.
For example, health insurance companies might not write a policy for a person who is more susceptible to developing breast cancer. It could also impact job security and decisions on whether to have children, says Green.
However, on the plus side, a woman who has the BRCA1 or BRCA2 gene could take steps to catch cancer early if it develops by having more frequent mammograms and clinical breast exams. The key is to appropriately prepare people for testing, says Green.
"People should know all the issues related to genetic testing so they can make an informed decision," says Paula Trahan Rieger, MSN, RN, CS, OCN, ANP, SAAN, cancer detection specialist in clinical cancer prevention at M.D. Anderson Cancer Center.
At M.D. Anderson education begins by providing information that clarifies whether a person has a family history that puts him or her at high risk for developing cancer. Since cancer is a common disease, it is likely that every family will have been touched by cancer. Educate them about the red flags, she says. The red flags include:
• clustering of similar cancers within a family such as breast or ovarian cancer;
• multiple first-degree relatives developing cancer at a young age 10 to 15 years earlier than the general population;
• cancer in paired organs such as bilateral breast cancer;
• more than one tumor; for example, a breast cancer survivor later develops ovarian cancer.
If family history indicates that inherited genes could put a person at higher risk for developing cancer, then genetic testing might be warranted.
"Testing is not something you recommend. It’s the patient’s decision," says Trahan Rieger. Present the patient with the facts, and let him or her decide, she says. Patient education managers should have a variety of educational resources available, including a list of genetic counselors. (For information on educational resources and materials, see story, p. 147.)
Anyone considering genetic testing should see a counselor first, then go home and sleep on the information, says Kathleen Valverde, MS, CGC, clinical coordinator for the genetic counseling training program at Beaver College in Glenside, PA.
"The counseling is the educational component with the pros and cons of having the test, which can help people make a wise decision. However, the decision should never be made hastily," says Valverde.
People going to genetic counselors need to be prepared to provide information as well as receive it. Mainly, they need to know the reason for the deaths of first-degree relatives for three generations. This would cover grandparents and parents and their brothers and sisters as well as the person’s own siblings.
Before deciding to have a genetic test, people need to think of the implications of their actions in four areas, says Sawyer. They include:
• Medical implications.
People need to determine what they can do, if anything, if they test positive. In one hereditary colon cancer, 100% of the people with the altered gene develop pre-cancerous polyps on their colon. Therefore, a person who learns he or she has this altered gene could have the polyps removed or monitored by a physician.
"When the polyps become so numerous they can’t be managed, the colon can be removed to prevent the risk that they will become cancerous," says Sawyer. Before getting tested, people should learn as much as they can about the disease and what course of action they would take if the disease affects them, says Valverde. She recommends that education departments at medical centers provide packets of information on certain types of hereditary cancer. Usually people scramble to get facts after they get the results and, in the process, obtain a lot of erroneous information.
• Emotional issues.
People need to consider how they would feel if their tests were positive, negative, or inconclusive, says Sawyer.
• Family issues.
A positive test result has implications for the entire family, rather than just one member.
"I try to get people to think about which family members they would tell if their test is positive and how they would discuss the issue," says Sawyer.
Frequently, it is a good idea to discuss genetic testing with family members before being tested because it can impact the whole family, she says.
• Social issues.
"It is very important for the person considering genetic testing to find out what the risks are for insurance and even employment discrimination and what protections are in place," says Sawyer.
Laws vary from state to state, and polices vary from institution to institution. People should ask the medical center or company performing the test who will have access to the information and if test results become a part of the medical record, she says.
Genetic counselors also should be seen after a test to help people understand the results.
"Not everyone with a mutated gene will go on to develop a cancer, although their risk is higher. Their children won’t necessarily inherit the gene either. They have a 50% possibility of passing on genes," says Trahan Rieger.
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