Genetic Testing: Policies and Procedures

By Robin McBride, MS

Not everyone with a family history of cancer is a candidate for genetic testing. Approximately 7-10% of breast and ovarian cancer can be attributed to an inherited gene mutation, while the remaining cases are sporadic, or caused by factors aside from family genetics, such as environmental influences. The first step in genetic testing for hereditary breast and ovarian cancer is a thorough review of the patient's family and medical history.

To Test or Not to Test

There are several clues in determining whether a patient is at increased risk for carrying a mutation in either of the two hereditary breast and ovarian cancer genes, BRCA1 and BRCA2. These "red flags" include early onset of breast and ovarian cancer in two or more relatives, ovarian cancer in the family at any age, male breast cancer, breast and ovarian cancer in the same individual, and bilateral breast cancer. Ancestry must also be considered. Individuals of Ashkenazi (Eastern European) Jewish descent are more likely to have inherited a mutation common to this population. If an individual has two or more high risk factors in the family history, a more accurate risk assessment can be made using statistical risk calculation models (see "Estimating the Probability..." on page 5).

The American Society of Clinical Oncology recommends genetic testing only if the patient's risk estimate exceeds 10%, the patient's medical management will be influenced by the test results, the patient's family can benefit from the information, and the results can be adequately interpreted. Thus, appropriate patient education and counseling is integral to cancer genetic testing and is generally provided by a board-certified/board eligible genetic counselor, or a specially trained physician or nurse.

Genetic testing usually starts with an initial consultation in which the family history is reviewed, risk estimates are disclosed, and issues surrounding genetic testing are discussed. The patient makes a decision after carefully considering the benefits and limitations of testing. Once a patient has made the decision to be tested, there is an extensive process to facilitate the actual test. The scenario depicted here is what typically occurs when Myriad Genetic Laboratories tests a patient.

Consent and Coverage

A patient may authorize the billing of insurance for the cost of testing. Many insurance carriers are covering BRCA1 and BRCA2 testing, but each has a different level of coverage. Because many insurance companies will pay 80% of the testing cost, Myriad recommends that the patient submit a 20% copayment at the time of the blood draw to ensure that testing begins immediately. Insurance authorization allows the laboratory to directly bill the insurance company for the test.

Upon receipt of the sample, completed paperwork, and payment, testing commences immediately, with results in approximately three weeks. Testing is delayed until coverage and copayment is received. Some insurers, such as Aetna/US Healthcare, may require their own pre-authorization form. Patients can also opt to pay out-of-pocket. If necessary, a loan for the cost of the test can sometimes be arranged through a participating bank. Institutional billing is only an option for testing centers that have established a direct billing procedure with the laboratory, in which case the laboratory will bill the testing center directly, not the patient. In addition, it is important for patients to be aware of state taxes. For example, an additional genetic testing surcharge of 8.18% has been added for patients from New York.

Patients with Medicare must also complete a Medicare Waiver of Liability Form. While laboratories like Myriad accept Medicare, the cost of the test may not be covered in full, and therefore, this form must be signed and payment sent before testing will begin.

The patient may also be required to sign an informed consent document which indicates that the patient understands testing options, benefits, limitations, and risks. The informed consent form may also review policies for destruction of the sample, patient's financial responsibility, test cancellation, and research issues. Finally, the patient's physician may be required to submit a signed test request form.

FYI

Timely submission of forms and payment ensures a testing process that is not delayed, so it is important for the patient to be aware of all the forms that must be completed. In some cases, a test can be cancelled within 48 hours if desired by the patient. Myriad's policy is that cancellation can be done by phone, but must be followed immediately in writing to avoid testing charges.

Robin McBride is a genetic counselor for Myriad Genetic Laboratories. For more information about Myriad Genetic Laboratories, please call 1-800-4-MYRIAD (1-800-469-7423).