Genetics Counselor Awareness Day is November 12

November 12 is Genetic Counselor Awareness Day. Genetic counselors are specially trained in the areas of medical genetics and psychology and work closely with our physicians from various subspecialties to evaluate a family’s risk of an inherited medical condition. Genetic counselors play a critical role in patient care and outcomes in many different settings from preconception, prenatal, pediatric, adult, cancer, research, and laboratory. Baylor College of Medicine and Texas Children’s Hospital are proud to have 45 genetic counselors across all settings. Additional information about genetic counseling services across Baylor and TCH can be found at https://linktr.ee/BCMGCProgram.

Hannah Helber is a certified genetic counselor in the hematology clinic at Texas Children’s Hospital. Rachel Thomas is a certified genetic counselor in the prenatal genetics clinic at the Pavilion for Women at Texas Children’s Hospital.

What does a typical day look like for you as a genetic counselor?

Hannah Helber: No two days are the same! Some days, I spend more time seeing patients in the clinic, and other days I spend more time on test coordination, calling out results, or determining the best genetic test for our patients in the Hematology Department. I also spend time working with the physicians to coordinate care and provide support resources to our patients.

Rachel Thomas: My “typical” day is much less typical these days, given the pandemic. As a prenatal genetic counselor at the Pavilion for Women, I work remotely from my home with patients who are currently pregnant or planning to expand their family. My days include telemedicine genetic counseling appointments with patients, coordinating genetic testing for patients and their families, and corresponding with other health care providers involved in patient care.

What are some of the most rewarding parts of your job?

Hannah: The most rewarding part of my job is the time I get to spend with patients. I spend time educating families on genetics and genetic testing, but I also have an opportunity to meet families as they are going through a really stressful time in their lives. Having the opportunity to explore their feelings around genetic testing and their child’s medical concerns, provide validation and emotional support surrounding the process is truly the most rewarding aspect of what I do.

Rachel: Genetics plays an important role in the health of my patients, their pregnancies and their families. The field of genetics is intricate, and when your loved one is affected by a genetic condition, this can often feel scary and confusing. My favorite part of my job is that I get to be a resource to families to help them navigate this time in their lives by aiding in their understanding of genetic concerns for their family, facilitating resources, and providing support.

Why do you like being a genetic counselor at Texas Children’s Hospital/[other work location]?
Hannah: I feel incredibly supported by Texas Children’s Hospital and the Hematology Department. We have a great network of genetic counselors who support each other across the specialties. I always have someone to go to with questions. In the Hematology Department, I feel equally supported and that my role as a genetic counselor is valued in the care of our patients.

Rachel: Texas Children’s Hospital is a vast network of diverse health care services and providers. When you work at an institution with this level of innovation, you have resources and expertise available to your patients that you might not have elsewhere. This helps me to feel confident that my patients are receiving the best care possible. And seeing the emotional support dogs around the hospital is great, too!

What kind of things do you get to do for your patients outside of the normal work day?
Hannah: I volunteer with Periwinkle for Camp YOLO as a camp counselor. I had the pleasure of going to the in person camp in 2019, and to see the transition to virtual in 2020. I love having the opportunity to meet with the teens outside of the clinic, and help facilitate a fun weekend full of activities!

Rachel: Unfortunately, I do not have an answer to this question given COVID but I will hopefully soon. Other than prepping for my patients and writing clinic notes #worklifebalance.

How has genetic counseling changed since you started your career? What changes do you think are coming?
Hannah: Some of the big changes to genetic counseling that I am most excited about involve accessibility to genetic counselors. There are not enough genetic counselors to fill the increasing need of genetics-related services, and while we are expanding through new training programs, I am really excited about the creative ways the genetic counselors increase accessibility in the meantime. Increasing telemedicine, creating different chatbots, videos, decision aids, to really supplement the genetic counseling process is going to change how we counsel in the future.

Rachel: There has been a shift in the medical community to personalized medicine, where the medical care each person receives is tailored specifically for them. Genetic counselors are now involved in patient care at many different levels, which means there are now many different types of genetic counselors. For example, genetic counselors now work in fields they were not previously in, like cardiology, neurology, and infertility. I predict this specialization of genetic counseling will continue in the future and that genetic counselors will be involved in many multidisciplinary teams.

Tell me about an interesting case you had recently.
Hannah: I had a patient who was diagnosed with a known genetic condition several years ago that is caused by a chromosomal deletion. A provider reached out to ask if thrombocytopenia was associated with that condition, and after some research, I realized that it is a part of that syndrome but since her diagnosis we had identified the specific gene that causes those symptoms. We also learned that having a deletion of this gene requires additional medical management and so I was able to work with the family and Dr. Bertuch to explain this new information and coordinate care. It was a nice reminder that we are always learning in genetics and the importance of continuing to reanalyze past results as we learn more about new disease-gene associations.

Rachel: Every once in a while you have a patient experience that sticks with you. I originally saw a patient at the beginning of her pregnancy because she had a significant personal and family history of a metabolic disorder. The more severe form of this condition can cause life-threatening illness in the first few days of life and most commonly affects males. This patient’s pregnancy was a series of twists and turns. We were concerned when NIPT screening revealed a male pregnancy. We celebrated when the pregnancy tested negative for the metabolic condition. We regrouped when an ultrasound showed a birth defect. And finally, we found an answer through an add-on genetic test which diagnosed the pregnancy with a single-gene condition associated with isolated birth defects. Throughout this whole experience, I was amazed by the patient’s strength and adaptability. She was going through such a difficult time both within the pregnancy and her personal life, and she made every effort to take the best care of herself and her pregnancy.

What kind of training does a genetic counselor have?
Applicants to genetic counseling programs should have completed a bachelor’s degree or be expected to complete a bachelor’s degree prior to starting their training. Applicants are also encouraged to have advocacy/crisis counseling experience and genetic counseling shadowing. Genetic counseling training programs are Master’s level programs that are typically 2 years in length. Training includes didactic, clinical, as well as research experience through the completion and defense of a thesis.