Genetic Testing and Diagnosis

What is genetic testing?

Genetic testing (diagnosis) and counseling may help you and your family to more accurately plan health care strategies. Genetic testing can 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 it. It may also provide some peace of mind, discovering that your chances of developing cancer are not as great as you believed.

What is genetic testing and how is it done?

Genetic testing analyzes specific genes for mutations associated with hereditary cancer, typically using a blood draw. Your genetic counselor will help you and your physician choose an appropriate genetic test based on the information discussed at your appointment. Whenever possible, it’s best to begin testing with a person in the family who has had cancer. If a gene mutation is found in one family member, other relatives can undergo genetic testing to see if they have inherited the same mutation.

Genetic testing may help you and your family to plan your healthcare approach. It may offer some peace of mind to discover your chances of developing cancer are not as great as they had seemed. It can also determine if you have an increased risk of developing certain types of cancer, allowing you and your relatives to take more proactive steps toward earlier detection or prevention.

What if genetic testing finds I have a gene mutation?

If genetic testing finds a gene mutation, it means you have a hereditary risk to develop cancer. No form of cancer screening or prevention is perfect, but options may include increased cancer surveillance (such ultrasounds or MRIs, or mammograms or colonoscopies beginning at an earlier age). Other options may include taking medications that can reduce the chances of developing cancer, and/or surgery to remove at-risk tissue before cancer develops.

What should my relatives do?

Your genetic counselor and physician will help determine which of your relatives have an increased risk for having a gene mutation. We would strongly encourage you to inform relatives of your test results if a mutation were detected so that they can talk to their physicians about genetic counseling, genetic testing, and appropriate cancer screenings.

What if genetic testing does not find a gene mutation?

If you are the first person in the family to have genetic testing, then this test result has several possible meanings. Your genetic counselor will explain all the potential reasons your test 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 mutation previously found in your family, then your chances of developing cancer are probably no higher than anyone else’s.

What else should I consider?

Genetic testing impacts the whole family, and your genetic counselor is trained to help you explore your feelings and opinions. It is unlikely that genetic testing and the potential results would impact an individual’s ability to obtain or keep health insurance, but your genetic counselor will help you understand the laws in place protecting genetic health information.

Additionally, you may want to consider the following with the help of your genetic counselor:

• Would the knowledge and information gained from genetic testing help you 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 hereditary cancer risk?

About genetic counseling

Children’s Hospital Colorado established the first genetic counseling program in Colorado specifically for the evaluation of hereditary cancers in children. The clinic’s genetic counselors obtained master’s degrees from training programs accredited by the American Board of Genetic Counselors (ABGC)/Accreditation Council for Genetic Counseling (ACGC), are actively involved as members of the National Society of Genetic Counselors, and are ABGC board certified.