What is a genetic counselor?

Kate Lynch and Sienna Aguilar, Genetic counselors at Invitae

November 14th marks the third annual Genetic Counselor Awareness Day.

Generally, when we tell someone that we are genetic counselors, they immediately ask: “What is a genetic counselor?” We’re often so limited by time that the answer barely scratches the surface. But if given the time, there is so much we would tell them about our profession.

We would tell them that genetic counselors are leaders and innovators. We are advocates and tireless champions for patients. We are healthcare providers, researchers, educators, academics, consultants, and entrepreneurs.

One needs only to explore the #IAmAGeneticCounselor hashtag to get a feel for the diversity of genetic counseling roles. And yet, with all of this diversity, we share a common goal: to better serve and educate patients, providing them the opportunity they deserve to understand how genetics and genomics impacts their health and the health of their family.

For so many patients, genetic counselors are the difference between a confusing and stressful diagnostic odyssey and an informed, supported patient experience. As genetic counselors, we combine expertise in genetics with a passion for patient care to provide a service unlike any other in healthcare. So, what does all of that look like in practice?

Some genetic counselors see patients every day from different walks of life and at different stages of their healthcare journey. Some patients have been diagnosed with a disease and are looking to genetic testing to understand why. Others are struggling with unexplained symptoms and are searching for a diagnosis. Some patients wish to understand their personal risk of disease, either due to their family history or because they simply want to be proactive about their health. Other patients are thinking of starting a family and want to understand how their genetics might affect their family planning.

Other genetic counselors work behind the scenes, assisting genetic testing laboratories with writing patient reports, helping develop new genetic tests, and working on new genetic research. Our roles in healthcare are as diverse as the patients we help.

Genetic counseling is truly an incredible profession. We love what we do and the incredible impact it has on the lives of patients and their families. We look forward to a time in the not-so-distant future where genetic information is ubiquitous, and we never again have to answer the question: “What is a genetic counselor?”

Read real patient stories to learn more about how genetic counselors impact lives.