Understanding Hereditary Cancer Risk, Part II: Genetic Counseling and Testing

This blog post is the second in a series about hereditary cancer risk and how it can be addressed in the context of Medical Family Therapy.

In my last post I discussed some of the basic points about hereditary cancer syndromes. This next post focuses on genetic testing, or the process of learning whether or not a cancer-related mutation is present in a given individual.

Ideally, the process of genetic testing begins with a visit to a genetic counselor. These healthcare professionals are specifically trained to assist individuals and families as they navigate the complex information and decisions that are likely to arise when genetic information becomes known. You should expect that a first appointment with a genetic counselor will involve lots of information — about what the specific mutation being tested for means (if a mutation has already been identified in your family), or about the mutations that will be tested for if you are the first in your family to be tested; about what both a positive and negative test result would mean; and about any cancer screening or risk-reduction strategies that would be relevant if you were to test positive. You should also have the opportunity to discuss what the emotional and relationship implication of either testing outcome would be. If you have concerns or fears about how you will share your results with your loved ones, or how you might deal with the emotional impact of your test results, you should have an opportunity to discuss these with your genetic counselor. He or she will likely have some good insights about such issues, and will refer you to a qualified therapist if ongoing work around such issues seems helpful.

After the educational part of genetic counseling is complete, your genetic counselor will ask you if you are ready to make a decision about testing. Remember that at this point, it is perfectly acceptable to decide not to take the test if you are not ready. The decision is yours, and yours alone — and it is important to be attuned to your “gut instinct.” One important thing to think about is how the information provided by the test would change your behavior or allow you to make any decisions. For example, if you can say with certainty that if you test positive for a BRCA mutation, you’re prepared to undergo regular screening, share your mutation status with family members whose own risk would be affected, or consider risk-reduction strategies, you may be ready for testing. But if you believe that you won’t do anything different after you know the results, the right time for testing may not have arrived yet.

If you do decide to move forward with testing, the actual test is a fairly straightforward process. Your blood will be drawn and sent to a lab, and the results are usually back within a month (how long this takes depends on a number of different factors, and in some cases it’s much quicker). When your results are ready, you can expect to meet with your genetic counselor again to receive the results and talk about what they mean, and next steps if applicable.  You should feel comfortable bringing a loved one with you for support to this appointment.

In sum, the process of genetic counseling and decision-making about genetic testing are deeply personal. Working with a certified genetic counselor (as opposed to having a doctor order the test directly and skipping genetic counseling) provides the best possible assurance that all of your questions will be answered and that you will feel ready to make a confident decision.

The National Society of Genetic Counselors provides a directory of certified genetic counselors, and you can search online to find one near you.

One Response to “Understanding Hereditary Cancer Risk, Part II: Genetic Counseling and Testing”

1. Peter North says:

   30 November 2011 at 6:49 am

   greetings from Arizona!

   Reply