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There is a test that can be used to detect the variant APC gene
predisposing some Ashkenazi Jewish people to developing colorectal cancer. This
test, which is performed on a small sample of blood, does not rule out mutations
that cause other forms of hereditary colon cancer.
Should I be tested for the APC gene mutation?
The Cleveland Clinic Risk Assessment Program suggests that any person of
Ashkenazi Jewish descent may consider genetic counseling and testing if there is
a personal or family history of colon cancer or pre-cancerous polyps. People of
Ashkenazi Jewish descent without a family history of colorectal cancer may want
to consider genetic counseling to determine the value of testing, given their
circumstances.
How should I interpret the results?
A positive test result means that you have an increased risk of developing
colorectal cancer in your lifetime. If you already have had colon cancer or
polyps, it may affect screening recommendations. This test does not detect the
presence of cancer or polyps.
If you test negative for this gene variant, it means that you do not have
this specific cancer risk. But, you may still have a mutation in another gene
that causes hereditary colon cancer. Risk may be evaluated through genetic
counseling, where family history, lifestyle, and other issues may be discussed.
What should I do if I test positive for the APC gene variant?
Early diagnosis is important for preventing colorectal cancer. At this time,
experts have made the following recommendations for people who test positive for
the APC gene variant:
- People with a positive gene test should have a routine
colonoscopy every 2 years, beginning at age 35, or 5-10 years before the
earliest age at which colon cancer or polyps occurred in your family.
- People with a personal history of colon cancer or polyps should
have a routine colonoscopy every 2 years.
- Relatives of people testing positive for this gene mutation
should consider genetic counseling and testing.
Note: These recommendations may be subject to change, based on specific
family history information. It is important to talk with your doctor to
determine the most appropriate screening practice for you.
Where do I go to get the gene test?
The test currently is performed at only a few centers throughout the country.
The Cleveland Clinic Foundation offers genetic counseling and APC gene testing
for people of Ashkenazi Jewish descent.
How much does the gene test cost? Is the cost reimbursed by insurance?
The gene test currently costs $200. The cost of genetic counseling is an
additional charge. The costs of the tests for the other types of inherited forms
of colorectal cancer (FAP and HNPCC) range from about $250 to $2,000.
Some insurance providers cover genetic counseling and genetic testing, while
others do not. If you are interested in submitting the cost of the test to your
insurance provider, check with your provider about coverage before having the
test performed.
Could I be denied health insurance coverage based on the test results?
The Health Insurance Portability and Accountability Act (HIPAA) of 1996
prevents insurance companies from denying health insurance based on genetic
information, and prevents them from using genetic information to demonstrate
that a health condition existed before application was made for insurance. In
addition, many states have passed laws or have legislation pending to address
insurance concerns.
For more information
For more information about the APC gene test, please call The Cleveland
Clinic Department of Medical Genetics at (216) 445-5686 or 800-998-4785 or visit
our web site at: http://www.clevelandclinic.org/cc/medgen/
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