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As patients and medical professionals increasingly look to genetics for personalized insights about health and disease, the need for genetic counselors has rapidly expanded. Genetic counselors fill a broad but essential role, advising everyone involved in the delivery of genetic services—from researchers and clinical test providers, to clinicians, patients, and their families—on the potential value and ethical landmines that might result from the genetic testing experience.

At the Ó³»­´«Ã½, genetic counselors like Samantha Baxter partner with scientists, helping to move research forward while weighing the delicate issues that affect those who submit genetic samples for testing. As a senior clinical genomics specialist in the Ó³»­´«Ã½â€™s (CMG)—a group led by institute members Heidi Rehm and Daniel MacArthur—Baxter supports the team’s efforts to analyze, share, and protect the genetic information of the thousands of patients and families who have turned to genetic sequencing in hopes of finding answers about an undiagnosed, rare disease. In her role, she not only reviews cases to make sure that families meet the center’s clinical and prescreening requirements, but also leads CMG’s variant curation team, which uses the latest available information to determine whether test results suggest that an individual might be at risk for disease. Baxter also helps to ensure that patients’ clinical-, gene- and variant-level information is properly prepared (and de-identified) for data sharing.

In celebration of Genetic Counselor Awareness Day (Nov. 8), we spoke with Baxter about genetic counseling for a #WhyIScience Q&A:

Q: What led you to pursue genetic counseling as a profession?
A: I first heard about genetic counseling in an introduction to genetics course at Lehigh University. Our final guest speaker was a medical geneticist who spent the entire lecture talking about how he wished he had become a genetic counselor. I took the next year to interview and shadow every genetic counselor I could track down. I was immediately drawn by the way personal experiences, perceptions, and culture can influence an individual’s reaction to genetic risks and diagnosis. I knew right away I wanted to become a pediatric genetic counselor. My career took a different path, but I have loved every step of the journey.

Q: Is the work you do at the Ó³»­´«Ã½ pretty representative of the field of genetic counseling over all?
A: My career has been distinct from many other genetic counselors in that I have always worked in the laboratory setting. I think I have worn almost every hat a lab counselor can wear: I have written clinical test results, helped discover novel genes, worked on a merger and acquisition as part of a business development team, and everything in between.

While I may not work in a clinical setting, which is where you will find most genetic counselors, I believe the day-to-day work is quite similar. I review clinical information and decide what test is most likely to yield a diagnosis; I asses genetic variants identified by those tests to determine if they are the likely cause of the patient's disease; and I use my counseling skills to ensure all members of my diverse team understand the principles of clinical genomics so they can best apply them to their part of our project. I think it’s important to have genetic counselors in the laboratory, and I love being the voice of genetic counselors and patients in settings where they haven’t always been heard.  

The Ó³»­´«Ã½ internal genetic counseling team (Grace VanNoy, Melanie O’Leary, Danielle Azzariti, Samantha Baxter) reviews annotations for a recent genome sequencing case.

Q: Why is genetic counseling so important?
A: There are currently thousands of genetic tests available, and increasingly patients are considering these tests as part of their medical care. Genetic counseling can provide information, guidance, and emotional support throughout the decision-making process. If someone decides to move forward with testing, genetic test results can be confusing or misleading and sometimes unexpected and even life-altering. A genetic counselor can explain results and provide guidance to an individual and their family members who may be impacted by what’s uncovered by the tests. Genetic counselors will also make sure that individuals understand what genetic testing can tell you, and what it can’t. Patients can get caught up in the hype about genetic testing, and while we never want to remove anyone’s hope, we also have to be careful to discuss the benefits and the current limitations of genomics.

Q: What are the biggest professional challenges for you in your career right now?
A: Professionally, the two largest challenges in our field right now are scaling the genetic counseling workforce and addressing the lack of diversity in our profession. Not only is there increased demand for genetic counselors in the clinic, but there is also a growing need for us in non-clinical settings like research, software companies, and laboratories. Maintaining our clinical workforce, while expanding our roles across all of genomics, will be an ongoing challenge.

Additionally, as we continue to recruit and expand the number of genetic counseling training programs across the country, we are all too aware of our other big challenge: diversity. Despite efforts to diversify our workforce, genetic counseling remains a largely homogenous profession. A key aspect of genetic counseling is being sensitive to the cultural influences that shape the way individuals and families view genetics. To truly provide all individuals with the best genetic counseling and genetic testing, we need to have counselors who can understand and reflect diverse cultures and share their perspectives with the broader profession.  

Q: What about personal challenges?
A: On the personal side, balancing motherhood while also remaining dedicated to my career has been a struggle. Thankfully I have met numerous mentors that are both brilliant scientists and engaged, loving mothers. When I finally opened up about my frustrations, I was amazed at how many women were honest about their own challenges and took time from their hectic schedules to talk with me and share tips. What I now appreciate is how much my love of my career and my family fuel each other. Becoming a mother has made me a more compassionate and empathetic genetic counselor, and the patient stories I encounter every day remind me to slow down and enjoy the small moments even on the most challenging of days. 

Q: What have you found most rewarding about your work over the years?
A: Working in the laboratory and research setting means that I have a broad impact on many patients around the world. Whether it's streamlining processes to shorten turnaround times, writing patient-friendly results, or participating in open data sharing, even a small change can have a large impact when added up over hundreds or thousands of patients every year.

Over the last year, I have also had the privilege of developing and running our annual , which has been a passion project of mine. As the first genetic counselor hired at the Ó³»­´«Ã½, I feel it is my responsibility to foster the growth of the Ó³»­´«Ã½â€™s genetic counselor community and advocate for having more genetic counselors involved in Ó³»­´«Ã½â€™s clinical projects.

Q: What is the best professional advice you have for people new to your field?
A: To look at your career as a long stage play—there will be many scenes and acts over your decades of work. Even if a job isn’t exactly what you wanted it to be, try to make the most of the opportunity and gather skills or experiences that will lead you in the right direction for the next scene. Our field is so dynamic, no one ever knows where things will be in 10 years. Staying flexible and being open to new opportunities will give you the chance to make the most of everything that comes your way.