Understanding Hereditary Cancer Syndromes and the Role of Certified Genetic Counselors

Editor’s note: The following article is a part of the National Society of Genetic Counselors’ new patient blog post series. Written by real patients, these stories share a glimpse into the sometimes complicated world of genetics and the role a genetic counselor can play in helping people navigate their healthcare. If you are an NSGC member and have a patient interested in sharing his or her genetic counseling experience, please email Jennie Szink at jszink@pcipr.com for more information. 

By Georgia M. Hurst

IHaveLynchSyndromeAfter my brother was diagnosed with Lynch syndrome, I spoke with my doctor and he referred me to a certified genetic counselor. I immediately met with a genetic counselor and a geneticist and they took the time to explain the Lynch syndrome diagnosis. They were understanding and sensitive to the emotional gravity of the situation. They gave me time to process the information and did not pressure me to get genetic testing. After some thought, I went back a week later for genetic testing, which consisted of a simple blood draw.

I have a strong family history of colon cancer. Early deaths within my immediate family forced me to take drastic measures when I learned I have Lynch syndrome. Difficult experiences (from the loss of my reproductive organs and the lack of information on the Internet to the emotional aspects of having Lynch syndrome) were the impetus for starting my blog ihavelynchsyndrome.com four years ago. I wanted to share my story because I knew there must be others in comparable positions suffering in silence. They might feel alone and isolated, just as I did. I sought to give Lynch syndrome and the women who undergo “risk-reducing” surgeries a much-needed voice.

I frequently speak with people who have recently been diagnosed with a hereditary cancer syndrome. As a patient and patient advocate, I believe many patients who receive genetic testing could reduce their anxiety and concerns by meeting with a certified genetic counselor. A genetic counselor’s job is to give you information in order for you to make an informed decision.

Genetic information is being discovered and changing faster than many healthcare providers can keep up with. Consulting with a genetic counselor, who has expertise in genetics, hereditary diseases, disorders and counseling, will help reduce the risk that your test will be ordered or interpreted incorrectly, and will increase the chance that you’ll understand your options.

Below I outline the reasons why, from my experience, I believe seeing a genetic counselor is important for patients and families with hereditary cancer syndromes:

  1. Genetic Information and Resources
    Many doctors might not have the time to sit down and explain the details about genetic testing in a way patients can absorb and understand. Genetic counselors can help direct patients to the resources needed to understand genetic testing results, their diagnosis and the healthcare options available to them. 
  2. Personalized Approach
    The “one size fits all” approach for working with patients with hereditary cancer syndromes is not ideal. Cultural beliefs, education, socioeconomic status, personal health and personal experiences all help shape the individual healthcare decisions a person will make. Genetic counselors are aware of these issues and help support patients and their families through the genetic testing and diagnosis process. 
  3. Involving Family Members in Genetic Counseling
    Family members are often welcome to attend genetic counseling appointments with patients. This helps everyone understand the situation and can encourage others to seek genetic counseling and genetic testing themselves. Genetic testing in the family is important to consider since many hereditary cancer syndromes are deemed autosomal dominant, meaning a carrier has a 50/50 chance of passing on the mutation to their children. Genetic counselors can discuss with each individual if genetic testing is appropriate and what preventive and screening options are available. 
  4. Choosing a Cancer Screening Plan
    Different doctors often provide different recommendations regarding surveillance for hereditary cancer syndromes. Not all physicians are well-versed in hereditary cancer syndromes, so genetic counselors can help patients find doctors who understand the screening protocol for particular syndromes. 
  5. Discussing Life-Changing Decisions
    Removing body parts, such as ovaries and breasts, in order to prevent cancer can be beneficial, but it may come with quality of life issues. Taking steps to prevent cancer comes with a huge emotional, physical, and financial cost and people often suffer in silence. Before making any surgical decisions, speak with a genetic counselor or other healthcare provider about where you are in life to decide what the best option may be for you personally.
  6. Receiving and Understanding Genetic Test Results
    Genetic counselors provide patients with an analysis of test results and can help develop a letter, which can be sent out to family members, providing information about the mutation that was found and why they should consider genetic counseling and genetic testing. They can also discuss ways to share genetic testing results with family members.  
  7. Continued Support
    Genetic counselors have resources available to patients for their particular hereditary cancer syndrome. Some people may need access to a psychiatrist, support groups or reputable websites. Genetic counselors may also check in with you within the year of your diagnosis and beyond to let you know there are advancements being made related to specific hereditary cancer syndromes, clinical trials, etc. 

Other Resources

Genetic information is being discovered and changing faster than many healthcare providers can keep up with. Consulting with a genetic counselor, who has expertise in genetics, hereditary diseases, disorders and counseling, will help reduce the risk that your test will be ordered or interpreted incorrectly, and will increase the chance that you’ll understand your options.

If you have a hereditary cancer syndrome, patient advocates can assist with finding specialists, getting into clinical trials and more. Patient advocates are listeners and are highly empathetic to your situation and concerns. Follow @GenC_SM on Twitter or Gencsm on Facebook to learn more. Patient advocates and experts have come together on these channels to share and discuss the latest information.

Lastly, be wary of the information you find online. If you have questions, be sure to consult with your genetic counselor and doctor. If you’re looking for accurate information regarding your particular hereditary cancer syndrome, sites such as the Centers for Disease Control and Prevention, National Institutes of Health and Mayo Clinic are reputable. 


Learn More 

Learn more about Lynch syndrome and hereditary cancer syndromes on Georgia’s blog ihavelynchsyndrome.com. Find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.

Georgia M. Hurst is the founder and executive director of ihavelynchsyndrome.com (501c3).
You can follow her on Twitter @ShewithLynch.

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