Getting Tested

For a comprehensive Guide to Genetic Testing see The official Journal of the Genetic Alliance


ON THIS PAGE:

How do I get tested?

What does the BRCA test entail?

How long will it take for my results to come back?

How much does it cost to test for BRCA?

Will my insurance cover the cost?

I don’t have insurance – are there other options for getting tested?

What does a Positive result mean?

What does a Negative Result mean?

What is a “Variant” result?

What is a “False Negative?”


How do I get tested?

The first step is to sit down with a genetic counselor, genetic specialist, or other medical professional to review your family medical history. This will help you find out if there is indication of a BRCA mutation or other genetic condition in your family, your chances for having BRCA or other condition, and what that means for you specifically. The genetic counselor will then inform you as to whether genetic testing is available, how genetic testing is available, and the pros and cons of testing.

Your genetic specialist may take your test or refer you to a physician for drawing your blood sample. After payment has been coordinated, a simple blood test will be sent to a lab and you will hear back from your genetic specialist in a few weeks to a month with your results.

For more information on finding a genetic counselor, please visit:

Find a Genetic Counselor in your Area
by the National Society of Genetic Counselors

How to Find a Genetic Counselor
by Genetic Health

Frequently Asked Questions About Genetic Counseling
by National Human Genome Research Institute

NCI Cancer Genetics Service Directory

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What does the BRCA test entail?

The test for BRCA mutations is done on a blood sample collected by needle from a vein in the arm. Your blood is drawn in a laboratory, doctor's office, hospital, or clinic. The sample taken is then sent to a laboratory for testing (in the United States, a laboratory at Myriad Genetics.)

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How long will it take for my results to come back?

From the date that blood is drawn, it can take several weeks or months for test results to become available. The length of time depends on the tests performed and other factors. Individuals who decide to get tested should check with their primary care provider or genetic counselor/specialist to find out when test results might be available.

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How much does it cost to test for BRCA?

The only commercially available BRCA test in the U.S. is done by Myriad Genetics at a cost of about $3,000. The cost of the test for the consumer can range from several hundred to several thousand dollars depending on factors including: who in your family has been previously tested (if a previously-identified mutation exists in the family), and if your family ancestry correlates with increased risk of a particular mutation (ex. Ashkenazi Jewish heritage). Insurance policies on covering the costs for genetic testing are varied. Make sure you speak with your Genetic Counselor about insurance coverage and costs before testing.

For more information, visit:

FORCE's comprehensive database on finding HealthCare for genetic testing

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Will my insurance cover the cost?

Some health insurance companies will pay for genetic testing if a person meets criteria indicating that hereditary cancer runs in the family. It is critical you check with your insurance provider, and speak with a genetic counselor if you have questions about insurance coverage, before ordering a test. Myriad Genetics, the company that owns the patent for BRCA and controls BRCA testing in America, does offer an insurance reimbursement assistance program.

For more information, visit

FORCE's comprehensive database on finding HealthCare for genetic testing

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I don't have insurance – are there other options for getting tested?

There are options for getting genetic testing without health insurance. Many centers offer genetic testing within research, and some limited research studies cover the cost for genetic testing as part of the study. The Hanke family, featured throughout In the Family, participated in a research study for BRCA testing through the laboratory of Dr. Mary-Claire King.

You can also consider taking part in a clinical trial. Clinical trials are research studies in which people help doctors find ways to improve health and cancer care. Each study tries to answer scientific questions and to find better ways to prevent, diagnose, or treat cancer. Find a clinical trial near you.

For example, Creighton University offers genetic testing on a research basis at no charge to patients who are qualified/ approved by their collaborating geneticist. Visit their website and contact peggyk@creighton.edu (study coordinator) for more information.

A genetic counselor can help determine if you qualify for a financial assistance program to cover the cost of genetic testing. For more information on genetic counseling and how to find a genetic counselor see the National Society of Genetic Counselors website: http://www.nsgc.org

Medicare also has new guidelines covering BRCA1 and BRCA2 genetic testing. See Medicare Coverage Database

Some affiliates of the Susan G. Komen Breast Cancer Foundation fund local programs that provide genetic testing to uninsured or underinsured people. Find your local affiliate.

Some hospitals have social workers or financial assistance counselors who can help explain your options and direct you to resources that provide assistance in paying for medical care. Some hospitals designated as Hill-Burton facilities receive money from the federal government. These hospitals must provide a certain amount of free or reduced-cost health services every year to those who cannot pay. Each facility may decide which type of free or reduced-cost care it will provide, and must publish this information in the newspaper, as well as provide a written notice to you upon request for Hill-Burton Assistance.

For more information and comprehensive guides to finding healthcare coverage for genetic testing see

FORCE's comprehensive database on finding HealthCare for genetic testing

National Cancer Institute's resource page on Clinical Trials

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What does a Positive result mean?

A positive test result for BRCA mutation indicates that a person has inherited a known mutation in the gene BRCA1 and/or BRCA2 and has an increased risk of developing certain cancers. The BRCA genes are "protector genes" for fighting off breast cancer and other types of cancer. Having a mutation in BRCA1 or BRCA2 means your "protector gene" is "broken". Therefore, a positive result only means you are at a higher risk of developing cancer. It cannot tell whether cancer will actually develop-or when.

For more information, see

National Cancer Institute Fact Sheet on BRCA mutations and Associated Risk

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What does a Negative Result mean?

A negative BRCA test result will be interpreted differently, depending upon whether there is a known mutation in your family. If someone else in your family has tested positive for a BRCA mutation, and you test negative for the same known mutation, it is highly unlikely that you have an inherited susceptibility to cancer.

For example, take Olga Flores from In the Family. Because her mom, Betty, had tested positive for a BRCA mutation, Olga's negative result meant she did not inherit this BRCA mutation. This test result is called a "true negative." Having a true negative test result does NOT mean you will never get cancer; it means that your risk of cancer is the same as that of the general population.

In cases where no known mutation in BRCA1 or BRCA2 has previously been identified in a family with a history of breast and/or ovarian cancer, a negative test is not informative. SEE "What is a 'False Negative'"

For more information, see

National Cancer Institute Fact Sheet on BRCA mutations and Associated Risk

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What is a "Variant" or "Ambiguous" result?

Like Martha Haley in In the Family, some people receive "ambiguous" test results, or "variants of uncertain significance." This means that your test result shows a change in your BRCA1 or BRCA2 gene that has not yet been associated with cancer in other people. According to the National Cancer Institute, one study found that 10 percent of women who underwent BRCA1 and BRCA2 testing had this type of ambiguous genetic change. So - it's entirely normal to get a variant result, as ambiguous results are somewhat common. As Mary Claire King says to Joanna "Everyone has genetic mutations." Many of these mutations do NOT increase an individual’s risk of disease - even if the mutation is in a gene (like BRCA) where there IS a known mutation that increases an individual's risk of disease.

In the case of a variant result, it is not known whether your specific change affects your risk of developing cancer because there has not been enough research done that shows that connection, and not enough people have been tested with that specific result. As more research is conducted and more people are tested for BRCA1 or BRCA2 mutations, scientists will learn more about these genetic variants and cancer risk. There is a chance you will be re-contacted with updates about your ambiguous test result. If you have a variant result, you may want to consider participating in a clinical trial.

For more information, see

National Cancer Institute Fact Sheet on BRCA mutations and Associated Risk

Search for clinical trials

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What is a "False Negative?"

A false negative means one of two things:

1. Receiving a negative BRCA test result where no known mutation in BRCA1 or BRCA2 has previously been identified in a family with a history of breast and/or ovarian cancer (i.e. no-one else in your family has been tested for BRCA mutations, or did not test positive for BRCA mutations). In this case, your negative test is not informative. It is impossible to tell whether you do not have a mutation (a "true negative") or if the test just did not identify a mutation - a false negative.

2. There is a mutation in your genome that went undetected by the test. It is possible for people to have an mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk, but it is not detectable by this test. Because Myriad controls the patent on BRCA, research on this gene - including alternative mutations and working to develop a more thorough testing - is currently extremely limited. Studies in Universities have shown up to 12% of negative results from Myriad are "false," meaning that these individuals do in fact have a mutation in their BRCA gene that went undetected by Myriad’s test. (See: Walsh et al., Journal of the American Medical Association, 3/22).

For more information, see

National Cancer Institute Fact Sheet on BRCA mutations and Associated Risk

BRCA Genetic Mutation Test Yields False Negatives For Breast Cancer Patients With Family History Of Breast, Ovarian Cancer, Study Says
by Medical News Today

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