A WILD RIDE: A Genetic Counselor Undergoes Genetic Testing

Editor’s Note: Following is a special post to the NSGC Blog: a personal story about the challenges and revelations of NSGC member and esteemed colleague Caroline Lieber’s, MS, CGC, genetic testing journey. 

A WILD RIDE: A Genetic Counselor Undergoes Genetic Testing 

Caroline Lieber genetic counselor  
Caroline Lieber, MS, CGC

After 35 years as both an academic clinician and an educator, I wanted to see what genomics was all about from the consumer perspective and to document the experience.

The BRCA gene screening test seemed like a no-brainer. I'm not from a high-risk population, and there's no strong history of cancer in my family. I offered up my saliva without giving it much thought.

And when I got an email a week later asking me to make a genetic counseling appointment, I thought it was a normal part of the process.

I made an appointment with a genetic counselor I know personally. After she called me back – a call that must have been terribly difficult for her – nothing seemed normal for a long time.

The Results

I had an altered BRCA1 gene. I know the genetic counselor told me the result was not a typical mutation.  I know I asked some questions. I didn't hear a lot of her answers. I had seen it many times as a clinician: the brain shuts down when it encounters something unexpected and frightening.

My result is confusing. It is not a typical BRCA result – like Angelina Jolie’s – that makes your risk so high that the decision to have a mastectomy and/or oophorectomy (removal of the ovaries), while not easy, is at least clear. My case was more complicated and in so many ways I felt grateful, but also guilty, because I’d seen so many times, in so many of my patients, what typical BRCA1 and BRCA2 gene mutations mean. I’m fortunate that I know a lot of genetic counselors. I reached out to my friends, assembled a team to help me make a plan. I was on the diagnostic odyssey many patients and genetic counselors are so familiar with.

As a genetic counselor I always felt I understood the emotional impact genetic test results have on patients. Now that I’ve experienced it firsthand, I see even more clearly the importance of talking to a genetic counselor about these issues, especially before testing.

I experienced a torrent of feelings. I struggled not to feel damaged, tainted, less than whole: everything I had heard patients describe to me. I tried to remind myself that this was not something new, that I've had this altered gene all my life;  I just know it now. I repeatedly told myself, "You are more than a single mutated gene."

I tried to respond as a consumer would, to think about the questions and concerns that any person would have in this murky situation. With a lot of help from a lot of smart and caring people, I worked through some of the questions, particularly around recommendations for screening and management. But - AND IT'S A BIG BUT - I had the resources and the know-how to do this. Most people don't even know where to start.   

Emotional Impact

After I received the results, I met with a variety of healthcare professionals. The medical geneticist recommended breast surveillance – more frequent mammograms and other imaging tests - and that I consider oophorectomy, so I saw a gynecologic oncologist surgeon to discuss the status of my ovaries. I had a breast MRI, a first-time experience for me, and not one I liked.  During the few days I waited for the results, I was living in a suspended state, feeling anxious, terrified and helpless. I received my results while attending a professional conference. They were normal.

As weeks turned into months, I found it increasingly hard to compartmentalize my feelings during this process. The blast of emotions I encountered surfaced at times with no warning, and were all-consuming.

As a genetic counselor I always felt I understood the emotional impact genetic test results have on patients. Now that I’ve experienced it firsthand, I see even more clearly the importance of talking to a genetic counselor about these issues, especially before testing.

Before patients have genetic testing, I encourage them to consider these questions:

  • Why do you want genetic testing?
  • What information do you want to know? What do you not want to know?
  • What is your plan if you test positive for a mutation, and who can you call on to help you make that plan?
  • How will unexpected results affect your family members?

Genetic counselors are valuable resources for people interested in genetic testing. They also review your family history and help interpret genetic test results with you. You can find a genetic counselor in your area using NSGC’s “Find a Genetic Counselor” tool. 

Lessons Learned

I have come to identify myself by adjectives. Divorced. Carrier of altered BRCA1 gene. Mother of grown daughters.  Daughter of aging mother.  Sister, friend, aunt, girlfriend. Not one of them defines me, each is just one aspect of who I am, of the patchwork that makes me, me. My personal lesson from this experience is this: as we travel down the rapidly changing and information-charged genomic highway, there is much to know and understand, and we must be prepared for surprises, for bad news and for news that’s not completely black or white, but often gray and complex. As individuals it is important we take control of our own health care and seek out the additional information and support we need. Genetic counselors can help.

Caroline Lieber, MS, CGC is an NSGC member and served as Director of the Joan H Marks Graduate Program in Human Genetics at Sarah Lawrence College for 15 years. She is currently working as an independent consultant

1 Comment
1 Like

Thank you for sharing your story!

June 9, 2015 12:59 PM by MaryAnn Whalen Campion

Kudos to you, Caroline, for sharing the story of your journey with genetic testing. It is clear that you've been in good hands throughout the process, from the initial GC phone call to the follow-up conversations with your "team." This is a great testament to the fact that education and decision-making come in many forms and spaces these days.

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