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Genetic testing and family history

What is genetic testing?

Genetic testing is a blood test that looks for changes, also called alterations or mutations, in genes. These changes cause disease or place someone at higher risk for getting a certain disease, such as cancer. Sometimes, these gene changes can be passed from parent to child.

Genetic testing, as part of cancer risk assessment, is done in specialized laboratories by trained professionals.

How can genetic testing be helpful?

  • It can tell you if you did inherit a specific genetic change
  • It can tell you if you did not inherit a specific genetic change
  • It can help explain your risk for getting cancer
  • It can help you better understand what you can do to lower your risk for cancer
  • If you have just been diagnosed with cancer, it can help with your treatment plan
  • If you already have cancer, it can help you learn your risk for a second cancer
  • It can help your family members learn if they have inherited a specific genetic change
  • It may be able to help explain other family members' test results

Your cancer risk counselor will help you learn more about what genetic testing can tell you.

Learn about a family pedigree

How long does it take to get my genetic test results?

Genetic testing can take anywhere from two weeks to several months to complete.

Multigene Panels

Genetic testing for hereditary cancer risk has been available for about 20 years. A family history with more than one case of the same or related cancers, young cancers, or people who had cancer more than once might be offered genetic testing. This testing could be for many different gene mutations known to increase the risk for certain cancers.

Some of the most common cancer genetic tests are for the BRCA1 or BRCA2 genes related to inherited breast and ovarian cancer, or the Lynch syndrome genes related to inherited colon, stomach, uterine, and ovarian cancers. Genetic testing is often costly and testing for more than one genetic syndrome is can be difficult to do.

New technology, called Next Generation Sequencing, has given genetic testing laboratories the ability to look at dozens of cancer risk genes. Several labs now offer multigene panels that look at genes related to specific or related types of cancer, like breast, colon, or kidney cancer.

The benefits of multigene panels include the ability to look at several genes at one time, possibly reduce cost, and test for more recently discovered genes that might have been too expensive to test for in the past.

There are also many challenges to multigene panels. One challenge is the addition of new genes for which we do not yet have good information. There is also the chance to get an unexpected genetic result and a higher possibility of an unclear genetic test result called a genetic variant of uncertain significance. Sometimes, the results are hard to interpret for healthy family members.

Fox Chase began offering multigene panels to all eligible patients in 2013. We created new education tools to help patients understand these panels. Our team is here to provide support and education to make sure every patient is comfortable with the information they receive from multigene testing.

We continue to offer syndrome-specific testing, because this type of testing has the lowest possibility of an unclear result and is sometimes faster, which is important if someone needs genetic testing information to help guide cancer treatment. A genetic counselor can help review your testing options, so you can make a decision that is right for you and your family.

Our Risk Assessment Program offers genetic counseling to patients with a personal or family history of cancer. Patients who have had negative genetic testing in the past may want to consider further testing with a multigene panel.