What to expect from genetic counseling

A lot of people think that cancer “runs in the family,” but the truth is that fewer than 10 percent of cancers are the direct result of a genetic defect

Still, patients are increasingly referred for genetic counseling, because the results can help them make treatment decisions for themselves and also help family members to better understand their own risks. 

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As a genetic counselor, my job is to help guide patients as they navigate complicated choices surrounding genetic testing -- a DNA test performed on a small sample of blood or saliva.

For Jane, diagnosed with breast cancer, genetic counseling helped her decide on a lumpectomy rather than a bilateral mastectomy. Phyllis, who had run out of treatment options for her ovarian cancer, tested positive for the BRCA 1 gene, which made her eligible for a new round of chemotherapy. Melissa, 28, whose mother had colon cancer at 45, tested negative for colon cancer risk gene, but was advised to begin receiving colonoscopies at 35 rather than 50.

By evaluating which tests are most appropriate for each individual and taking the time to analyze and talk over the positive, negative or inconclusive results, I help patients to understand information, answer any questions and spend time listening to a patient’s hopes and worries related to this often complicated assessment.

What should you expect when working with a genetic counselor?

  • A meeting prior to genetic testing to review your medical and family history and determine whether you meet testing criteria for a specific hereditary cancer syndrome.
  • An explanation of the pros and cons of the different testing options and what the various test results could mean for you and your family.
  • A review of potential cancer risks and medical management changes that could be in store once the results are in, as well as the importance of this information for other family members.
  • A chance to ask questions and decide if you feel comfortable about your decision to pursue – or not pursue -- genetic testing.
  • Coordination of a blood or saliva sample to be sent to a genetic testing laboratory.
  • Help in navigating any health insurance challenges that can go along with testing.
  • A wait of 2 to 6 weeks before test results are reported to the genetic counselor, who will then make sure he or she has the most up to date and relevant risk and medical information for you.
  • A follow up visit, either in person or by telephone, to discuss the final results and to give you more concrete guidance, based on those results, for potential screening and prevention options available to you or your family members.
  • A written summary of your results and visits for you to share with your doctors and family members.

 

Andrea Forman is clinical team leader of the risk assessment team at Fox Chase Cancer Center.


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