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Hereditary Cancer and Genetic Testing

Guidelines for genetic testing in people diagnosed with colorectal cancer

Up to 10% of people diagnosed with colorectal cancer have an inherited mutation that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an inherited mutation linked to cancer.

Guidelines for colorectal cancer tumor testing followed by genetic testing

Experts recommend that all colorectal tumors have testing to look for an abnormality known as "" () at the time of diagnosis. This abnormality is commonly found in the cancers of people with an inherited gene mutation linked to .

  • People with  cancers are recommended to have genetic counseling and testing for an inherited mutation associated with
    • Not all people with  cancers will test positive for a  mutation.
    • People with cancers that are not may still benefit from genetic counseling and testing. These people should speak with their doctors about the benefits of genetic counseling and testing for a mutation in a gene or another gene linked to colorectal cancer. 

 

Additional guidelines for genetic testing in people diagnosed with colorectal cancer

Genetic counseling and testing for an inherited mutation is also recommended for people diagnosed with colorectal cancer who have any of the following:

  • a blood relative with a known inherited mutation in a colorectal cancer gene.
  • diagnosed before age 50.
  • diagnosed with another related cancer including endometrial, ovarian, pancreatic, stomach or other Lynch syndrome-related cancer.
  • have a close relative with a Lynch syndrome-related cancer diagnosed under age 50.
  • two or more relatives with a Lynch syndrome-related cancer diagnosed at any age.

 

Other people diagnosed with colorectal cancer who may benefit from genetic counseling and testing

People with colorectal cancer may benefit from additional genetic counseling and expanded genetic testing if they had genetic testing in the past, tested negative, and:

  • their situation matches any of the other guidelines above, and
    • they had a test that only looked for one or a few genes, or 
    • they had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.


Colorectal cancer survivors and those in treatment should speak with a genetics expert to see if testing is right for them. 

Genetic testing for relatives of people who have been diagnosed with colorectal cancer

Genetic counseling and testing is also recommended for anyone with a first-degree or second-degree relative who has been diagnosed with colorectal cancer before age 50. 

See our section Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information. 

finding-experts finding-experts

Health care providers who are specially trained in genetics can help you more clearly understand your risk for . The following resources can help you locate a genetics expert in your area.

  • The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization." 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 
  • FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and cancer and help you find a genetics expert near you. 
  • FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
  • Ask your doctor for a referral to a genetics expert. 

updated: 03/16/2022

find-support find-support

The following organizations offer peer support services for people with, or at high risk for colorectal cancer:

updated: 01/30/2022

paying-for-service paying-for-service

Insurance coverage for genetic counseling and testing

Most health plans cover genetic counseling and testing for inherited gene mutations linked to cancer in people who meet the national guidelines. The cost of testing and your out-of-pocket charges may vary based on several factors.

People who are denied coverage for genetic testing can file an appeal (FORCE has sample appeal letters). Your healthcare provider can work with your insurance company and help you file an appeal if needed. Low cost testing may be available for $250 or less. Learn more about coverage for genetic counseling and testing here

testing under the Affordable Care Act

Under the Affordable Care Act (ACA), insurance companies must pay for both genetic counseling and  testing with no out-of-pocket costs for women who meet certain criteria. The ACA regulations are limited to testing for and only and do not cover genetic counseling or testing in all situations. You can learn more about testing under the ACA here

Medicare and Medicaid coverage of genetic testing

Genetic counseling and testing is typically covered by Medicare for people already diagnosed with cancer who are in treatment or for whom test results may affect their care. Most state Medicaid programs cover genetic testing for and mutations for people who meet requirements, which vary by state. You can read more about Medicare and Medicaid coverage of genetic testing here.

Financial assistance or low cost genetic testing

JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available. Many laboratories offer low-cost genetic testing or financial assistance programs. Programs vary, so if you are not eligible for assistance through one lab, consider contacting other labs to see if you qualify .   

updated: 02/15/2022

Last updated July 02, 2022