Celebrating Genetic Counselor Awareness Day with Kristy Lee

Kristy Lee, a Certified Genetic Counselor and Research Professor in the Department of Genetics at the University of North Carolina at Chapel Hill, has been in the field of genetics for 22 years. Her journey into genetic counseling began with a pivotal moment during her undergraduate studies at North Carolina State University. Initially aspiring to be a veterinarian, Kristy discovered her true passion after attending a meeting where a genetic counselor spoke.

“I remember talking to my mom that night and telling her that’s what I’m going to do,” says Kristy. “I was so sure I wanted to be a genetic counselor and never looked back.

Kristy earned her Master of Science in Genetic Counseling from the University of North Carolina at Greensboro in 2002. Today, she specializes in general adult and cancer genetics, focusing on retinal disorders and hereditary coagulopathies in adults and children. Kristy also plays a crucial role in mentoring and educating the next generation of genetic counselors.

“I thoroughly love to see young adults as excited as I was to learn about the field of genetic counseling,” says Kristy.

For Kristy, genetic counseling is more than just providing information, it’s about helping patients make informed decisions.

“I like being the one to help people navigate through their decisions,” says Kristy. “I don’t tell people what to do because, quite frankly, I don’t know what I’d do in their situation. So it’s my job to give perspective and all the different options with the knowledge and experience I have.”

This empathetic approach is at the core of genetic counseling, as it helps patients understand their genetic diseases and the implications for their lives.

One of the most challenging aspects of Kristy’s work is counseling patients with progressive vision loss due to retinal diseases.

“It’s a very hard area of counseling because these are people that are progressively losing their vision, meaning they had it before,” she notes. Kristy, like other genetic counselors, provides patients with conversation starters to address difficult topics such as when to stop driving, when to disclose their condition to others, when to seek low vision rehabilitation training, and when to test other family members. Genetic counselors also connect patients with social workers and other resources to support their journey.

“A genetic counselor is a connector,” says Kristy. “It’s rewarding to be able to help my patients and even just be a sounding board for them to process.”

Kristy’s involvement with the Foundation Fighting Blindness has been a cornerstone of her career. As a former president of the Foundation’s Triangle chapter, she has seen firsthand the impact of the Foundation’s work on patients’ lives.

“For someone diagnosed with a retinal disease, I always make sure they know about the Foundation Fighting Blindness as a resource,” says Kristy. “Being a part of the Foundation for so many years has helped me learn how to help people better.”

In addition to her clinical work, Kristy is deeply involved in research, particularly in variant and gene curation. This process involves interpreting genetic variants in a gene using evidence-based methods for patients. She works with ClinGen, and one of her groups is funded by the Foundation. Through this research, Kristy works with retina genetics experts worldwide to interpret genetic variants and improve genetic testing results. This work is crucial for ensuring that patients receive accurate diagnoses and are eligible for clinical trials.

“We can’t have people in clinical trials that we aren’t confident we’re treating the right gene, or else it’s not going to work,” Kristy explains. “Working with these international retina experts is a thrill, all while helping make genetic testing better. It’s great to have the clinical expertise to bring to this research because I know how important it is for patients to get this testing done.”

Kristy’s research contributes to publicly available databases like ClinVar, providing expert-reviewed, FDA-approved genetic information that benefits patients, providers, and the biotech industry.

“I tear up thinking about one of my patients getting to go through gene therapy or any treatment,” says Kristy. “For so many years, it was so hard not to be able to give hope to people in clinic, but now there’s hope. Things that sounded like science fiction when I first started are here now. And the Foundation Fighting Blindness has had a ton to do with that. They were the seed money for most of these treatments now coming to the clinic. It’s one of the reasons I’m so involved and send patients to the Foundation.”

Kristy’s dedication to her work as a genetic counselor and researcher not only sets her apart but also highlights the profound impact genetic counselors have on patients with blinding diseases.

“I love being a genetic counselor, I can’t imagine doing anything else,” she says. Her commitment to mentoring aspiring genetic counselors and helping patients through difficult situations is a testament to her passion for the field. “I love being able to help my patients through difficult situations and being that person who helps them figure out the puzzle pieces.”