Hereditary Cancer: Tests and Diagnosis

What tests are used to diagnose hereditary cancer?

Genetic testing at Children’s Hospital Colorado typically requires a blood draw or a sample of tumor tissue. We then send that sample to a laboratory for analysis of specific genes to determine if there are gene mutations associated with hereditary cancer.

Whenever possible, it is best to begin genetic testing with a person in the family who has had cancer. If your child has had cancer, they may be the best first person in the family to test.

If your child has not had cancer, your genetic counselor will help you identify the best testing strategy in your family. If a gene mutation is found in one family member, then genetic testing can be made available to other relatives to determine if they have inherited the same gene change.

What if a gene mutation is found?

If a gene mutation is found, this means your child has a hereditary risk to develop cancer. Although no form of cancer screening or prevention is perfect, options may include increased cancer surveillance (such as beginning mammograms or colonoscopies at earlier ages or having ultrasounds or MRIs), taking certain medications that can reduce the chances of developing cancer, and/or having surgery to remove at-risk tissue before cancer develops.

Your genetic counselor and your child’s doctor will help determine which of your relatives are also at risk to have a gene mutation. You would be strongly encouraged to inform your relatives of your test results if a mutation were detected so that they can have the option of talking to their physicians about genetic counseling, genetic testing and appropriate cancer screening.

What if a gene mutation is not found?

If no gene mutation is found in the first person in a family to have genetic testing, then this test result has several possible meanings. Your genetic counselor will explain all of the potential reasons that genetic testing did not find a gene mutation.

If you have a relative with a known gene mutation and your test results show that you do not have the gene change previously found in your family, then your chances of developing cancer are probably no higher than anyone else’s in the general population.

Why choose Children’s Colorado for hereditary cancer risk assessment, genetic counseling, and/or genetic testing?

Genetic counseling is a confidential face-to-face communication process between your family and your genetic counselor. Your genetic counselor will work with your physicians to make recommendations for your child and your family regarding your medical care based on your evaluation. Genetic counseling may include:

  • Discussion of cancer and how it develops
  • Collection of information about your family history of cancer
  • Individualized cancer risk assessment
  • Recommendations for cancer screening and lifestyle changes for detecting and preventing cancer
  • Options for genetic testing based on your history
  • Exploration of the implications, risks and benefits of options in your situation
  • Information about research studies relating to hereditary cancer

Children’s Hospital Colorado currently has the only cancer genetic counseling program specifically for the evaluation of hereditary cancers in children in the state of Colorado.

Is genetic counseling and/or testing right for my child and family?

Genetic testing may help you and your family to more accurately plan healthcare strategies. It may provide some peace of mind, discovering that your chances of developing cancer are not as great as you believed. Genetic testing can also determine if you have an increased chance of developing certain types of cancer and allow you and your relatives to take more proactive steps to detect cancer earlier or to prevent cancer.

There are many things to consider when deciding whether or not to have genetic testing that may be discussed during genetic counseling, including:

  • Would the knowledge and information gained from genetic testing help you to make healthcare decisions?
  • If you knew you had an inherited risk for cancer, would you feel comfortable continuing your current cancer detection program?
  • How would you feel if you learned that you had a hereditary risk for cancer?
  • When is an appropriate time for your child to be tested for a hereditary risk for cancer?

Genetic counselors are trained to help you explore your feelings and opinions about genetic testing. The results of genetic testing impact the whole family, not just the individual being tested. It is unlikely that genetic test results will have an effect on an individual’s ability to obtain or keep health insurance. Your genetic counselor will review with you the laws in place protecting genetic health information.

How do experts at Children’s Hospital Colorado diagnose hereditary cancer?

With a genetics consultation through the Center for Cancer and Blood Disorders, you can investigate the possibility of hereditary cancer in your family. By talking with a genetic counselor, who will use your child’s personal and/or family medical history to determine the likelihood of a hereditary cancer condition in your family, you will learn how cancer can be inherited and what steps can be taken to prevent and detect cancer as early as possible.