What I do


photo: pacgenomics.com

I am 40 years old. What are the odds my unborn baby could have a chromosome condition?

My nephew has cystic fibrosis. Will my baby have it?

My mom had breast cancer at 35. What are my cancer risks? Should I have BRCA gene testing?

“So, what do you do?” I get that question a lot. It’s a good question when meeting someone new, an icebreaker of sorts. When I answer “I’m a genetic counselor,” I often get a blank look followed by the inevitable question “what is that?” It’s always refreshing when I meet someone who actually knows what a genetic counselor is. Fortunately, this happens more often now than it did 16 years ago when I started this career.

Genetic counselors communicate complicated information about genetics, heredity, risks, statistics and genetic testing to patients and families. The goal is to help patients understand their risks and make educated decisions about testing that are best for their situation. Genetic counselors work in many areas including prenatal, pediatric and cancer. Genetic counselors work as part of a team with nurses, doctors, radiologists, social workers and other healthcare professionals. They are also involved in physician education since they are a current resource on the rapidly changing field of genetics and genetic testing.

I was a clinical counselor for 12 years, mostly in prenatal. The field of prenatal genetics is evolving quickly and patients need counselors now more than ever to help them navigate the pros and cons of screening and diagnostic tests. I enjoy helping couples process this information and make decisions that are best for them. Unfortunately, I have had to work with families whose unborn children were diagnosed with birth defects or life-threatening conditions. I have worked with many families during a prenatal or infant loss. This is always difficult. Most of the time, however, babies are healthy and I am able to reassure patients and give them good news.

For the last four years, I have been working in a cytogenetics laboratory. This is where tests like chromosome analysis, chromosomal microarray and fluorescence in-situ hybridization (FISH) are performed. I have learned to read these tests but I also do interpretation, report writing and communication with doctors.

I will be returning to a prenatal counseling position in a couple of weeks. I am excited to get back into the routine of a busy ultrasound clinic. I enjoyed being in a laboratory but I am most in my element when I’m doing direct patient care.

So that is my career in a very small nutshell. I could talk about it all day but I tried to keep it brief. Feel free to ask questions in the comments.

For more information about genetic counseling services and careers, check out the National Society of Genetic Counselors.


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