As I sit in the hereditary cancer trenches, I see the negative effects of genetic testing sans certified genetic counseling every single day – and it is an enormous problem. Many of the fears and concerns that people discuss with me could be addressed and ameliorated simply if they spoke with a certified genetic counselor before and after having genetic testing.

What many well-meaning medical professionals and some other advocates fail to recognize is this: knowledge is only power for those with a hereditary cancer syndrome when they fully understand their genetic test results and have access to the resources and proper screening measures that will actually help them maintain their health.

Simply testing a patient and telling him or her that they hold a deleterious mutation is not enough.

If you are considering genetic testing, please know that your certified genetic counselor is your most valuable source of information about genetic testing. The earlier post by Jessica Profato-Partlow, genetic counselor, also talks about this. You need to fully understand what a genetic test result means, what your cancer risks are, what you can do to reduce your cancer risks, how frequently you need to be screened, and have access to medical professionals well-versed in this screening.

Before meeting with a genetic counselor, gather as much information from your family’s medical history from your maternal and paternal sides – both sides matter – as possible. Three generations of information from each side is optimal. Please note any people with cancer, age of onset of the cancer, age of death (if applicable), and other health-related issues. You can even use the family history questionnaire tool on this website to help. Your family medical history will provide a genetic counselor with important clues about which genetic tests may be best for you to consider.

A genetic counselor will be able to help you with one of the most complicated components of a genetic counseling session – your risk assessment and determining if genetic testing is right for you. If you decide to move forth with genetic testing, you should be provided with an accurate, easy-to-understand interpretation of your genetic test results. Results vary, and this is why certified genetic counselors are necessary for the genetic testing process. Speaking with a certified genetic counselor will help reduce the risk that your testing will be ordered or interpreted incorrectly, and will increase the chance that you will understand your options and your results.

If you do in fact test positive for a gene mutation that predisposes you to cancer, your genetic counselor can guide you to you make the right decision based on your personal situation, needs, and so forth. She or he will provide you the necessary information regarding your particular mutation and will discuss screening measures, possible risk-reducing surgeries, chemoprevention, and other alternatives for you to consider to maintain your health. Genes and mutations associated with particular hereditary cancer syndromes vary, as do their cancer risks. Not all mutations within a particular hereditary cancer syndrome require the same surveillance measures, risk-reducing surgeries, etc. and your genetic counselor can help you understand this.

Your genetic counselor will provide you with a letter discussing your gene mutation, what measures should be taken to prevent cancer, and any other necessary resources to help you deal with the gravity of the situation, and how to share this important information with other family members who may also be at risk.

Genetic counselors can help address questions regarding health or other insurance, may provide you with referrals to support groups or mental health professionals specializing in issues surrounding hereditary cancer, and may address many other concerns. For example, they can let you know when and if it is appropriate to test minor children within your family, as discussed in an earlier post by Jessica Profato-Partlow and Emily Dalton, genetic counselors.

If your doctor suspects that you have a hereditary cancer syndrome and wants you to have genetic testing, please do yourself a huge favor and ask your doctor for a referral to a genetic counselor. Alternatively, go to the National Society of Genetic Counselors website or the Canadian Association of Genetic Counsellors website to find one to find one within the U.S. and Canada. If you cannot travel to meet with one, please contact InformedDNA to arrange a phone consultation (U.S. only). Please feel free to reach out to me by clicking here if you’re having difficulty finding one — I am more than happy to help you.

Reference:

Matloff, ET. Cancer Principles & Practice of Oncology: Handbook of Clinical Cancer Genetics. Lippincott Williams & Wilkins, 2013.