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Counseling: Crucial Component Of Genetic Testing

Ruzanna Harutyunyan's picture

Cori Williams was driving home with four children in her car when she learned via a cell phone call that she had tested positive for a genetic mutation that greatly increases her risk for developing both breast and ovarian cancer.

“I don’t remember the rest of the drive home, because I was so upset,” says Williams, 32, who lives near Cincinnati. “I can’t believe my doctor’s office gave me that kind of sensitive and potentially upsetting information over the phone, instead of in person.”

Patients who undergo genetic testing through medical professionals with specialized training in genetics receive in-depth risk assessment, education and support, said Amy Sturm, certified genetic counselor at The Ohio State University Comprehensive Cancer Center – James Cancer Hospital and Solove Research Institute (OSUCCC-James).

“Patients who are considering having genetic testing and counseling to determine their risk for hereditary cancers and other diseases should ask their physicians to refer them to a trained genetic specialist in their area,” said Sturm, who counsels patients as part of Ohio State’s Clinical Cancer and Medical Genetics Programs.

Genetic testing – which is becoming increasingly popular – refers to analyzing DNA for inherited genetic alterations that may increase a person’s risk of developing a disease or disorder.

Something that is often overlooked is the importance of genetic counseling before a test is done, and again when the test results are delivered.

Pre-test genetic counseling can help determine whether testing is actually appropriate, will help the patient understand the benefits, limitations, and potential risks of genetic testing, and will help psychologically prepare a person who chooses to undergo a test. Post-test counseling is important for helping the person understand the test results and the increased risk/genetic susceptibility they and their at-risk family members have, as well as determine what steps the person should take next for risk reduction and management.

Anyone with a personal or family history of early onset cancer, or of multiple relatives with the same type of cancer, should consider genetic counseling and testing, Sturm said.

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Williams eventually sought genetic counseling at OSUCCC-James so that she could learn more about her risks and options from a trained specialist. During counseling, she learned that changes – mutations – in the BRCA1 and BRCA2 genes cause “hereditary breast ovarian cancer syndrome,” which greatly increases her lifetime risk of developing breast cancer and ovarian cancer.

Mutation carriers are encouraged to start doing breast self-exams at age 18, and to start having mammograms and breast MRIs at age 25, Sturm said. Screening for ovarian cancer – including a blood test and vaginal ultrasound – are also an option starting at age 30. Prophylactic surgeries to remove at-risk organs are also options for risk reduction.

OSUCCC-James and Ohio State University Medical Center have developed a free, online assessment tool – Family HealthLink – that allows individuals to enter their family medical history and determine their risk for both cancer and coronary heart disease, the top two causes of death in the United States. The survey takes approximately 15 minutes to complete, and provides a printable risk assessment that can be used for discussion with a physician or genetic counselor.

Patients who seek genetic testing for cancer and other conditions should keep in mind that:

* Genetic testing will not find all causes of hereditary conditions.

* People without specific gene changes, such as BRCA mutations, can still develop cancer.

* Health insurance often, but not always, covers the cost of genetic counseling and testing.

* Not everyone needs genetic testing. For example, only about 5 to 10 percent of all breast and ovarian cancers are hereditary.

“Genetics professionals are there to make sure that each patient receives the right tests and the results are interpreted accurately and appropriate risk reduction strategies can be offered to the patient,” said Sturm.