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Guidelines for Testing
Review expert guidelines regarding who should consider genetic testing, how to find a genetics expert and how to move forward with testing.
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Guidelines for genetic testing in people diagnosed with  cancer

Up to 10% of cancers are caused by an . There are national guidelines that outline who should receive genetic counseling and testing for an .

People with cancer, should speak with a genetics expert about genetic testing if they have any of the following:

  • a test of their tumor found a mutation in their cancer that may indicate they have an (for example, a , or mutation in the tumor that may indicate an in one of those genes). 
  • a blood relative who tested positive for an  in a gene linked to cancer.
  • metastic cancer diagnosed at any age.
  • cancer that is categorized as very-high or high-risk based on pathology.
  • they were also diagnosed with breast cancer.
  • Eastern European (Ashkenazi) Jewish ancestry. 


OR

  • one or more first-, second-, or third-degree relatives on the same side of the family who have been diagnosed with:
    • breast, colorectal or endometrial cancer at age 50 or younger
    • triple-negative breast, ovarian, pancreatic, male breast cancer, or prostate cancer at any age.
  • three or more close blood relatives on the same side of the family (including the patient with cancer) who have been diagnosed with:
    • breast cancer or cancer.
    • cancers associated with , including: colorectal, endometrial, gastric, melanoma, urothelial, glioblastoma, biliary tract, or small intestinal cancers.

 

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

You may benefit from additional genetic counseling and expanded genetic testing if you:

  • have intermediate-risk cancer with intraductal/cribriform histology
  • had genetic testing in the past and tested negative, and the following applies to you:
    • you had a test that only looked for one or a few genes, or 
    • you had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.


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

Guidelines for genetic testing for relatives of people who have been diagnosed with  cancer

Genetic counseling and testing is also recommended for anyone with a first-degree or who has been diagnosed with or high-grade  cancer. 

See our sections Testing Guidelines by Cancer Type and Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information. This is not a complete list of hereditary cancers. A genetics expert can help you learn if the cancer in your family is hereditary.  

Last updated November 10, 2023

Find Experts
Find Experts

The following resources can help you locate a genetics expert near you or via telehealth.

Finding genetics experts

  • The National Society of Genetic Counselor website has a search tool for finding a genetic counselor by specialty and location or via telehealth. 
  • 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. 
  • Gene-Screen is a third party genetic counseling group that can help educate, support and order testing for patients and their families. 
  • 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. 

Related experts

Genetics clinics

Other ways to find experts

updated: 07/21/2023

Get Support
Get Support

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

updated: 03/08/2023

Paying For Care
Paying For Care

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

If you need information about finding an insurance plan, watch our video: Choosing Wisely: How to Pick Insurance Plans.

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: 03/16/2023