Elizabeth Charnysh and JAX genetic counselors bring critical perspectives to genomic medicine research

Elizabeth Charnysh at JAX GM, Farmington, July 3, 2024. Photo by Cloe Poisson Elizabeth Charnysh at JAX GM, Farmington. Photo credit: Cloe Poisson

Leading with compassion, Charnysh represents a team of genetic counselors established seven years ago as part of a comprehensive strategy to study the impact of genomic medicine research on human health.

Leading with compassion

Genetic counselors meet people at critical points in their lives. These unsung heroes carry an immense responsibility as they explain genetic testing and subsequent, sometimes life–changing, results to individuals who may have never come across a “gene,” “variant” or “chromosome.” They then help patients become connected to resources and health care providers who can provide tailored interventions. Those who go into the field need to be able to balance patient emotions and the complex information revealed through their genetic testing with accuracy and compassion.

Elizabeth Charnysh, M.S., CGC, attended Eastern Connecticut State University, where she majored in biology with the intention of becoming a pediatric dentist. One dynamic professor, Dr. Amy Groth, however, opened her mind to a career in a different field: genetics. Charnysh began learning everything she could about possible opportunities to explore genetics and genomics. She discovered the JAX Summer Student Program (SSP), applied and was accepted in 2015 as part of the second class to participate in the program at The Jackson Laboratory for Genomic Medicine in Farmington, CT. She spent that summer in the Liu lab working on a triple-negative breast cancer genomics project under the direction of Associate Research Scientist Francesca Menghi, Ph.D.

“The Summer Student Program was a transformative experience for me,” says Charnysh. “It opened my eyes to the impact of genomics research and allowed me to form lasting connections with my peers. Most importantly, it made me fall in love with JAX.”

A perfect fit

Returning to school that fall, Charnysh continued to investigate careers in genetics, and like so many of us, when faced with indecision about the future, went to her mom for advice. That was when she learned about the genetic counseling her mother had received years prior. Charnysh’s maternal great uncle had been diagnosed with Duchenne muscular dystrophy (DMD), a progressive muscular weakness disorder. Before pregnancy, her mother received crucial genetic counseling to be aware of her chances of having a son with DMD, as this condition is heritable and passed down through the maternal lineage.

“I realized that genetic counseling was exactly the role I was looking for. I wanted a career where I could help people, and this field seemed like the right fit,” says Charnysh.

Charnysh then graduated with a Master of Science in Human Genetics at Sarah Lawrence College, home to the first genetic counseling program established in the United States. The summer before she went to graduate school, she decided to spend another summer at JAX as a resident advisor for the SSP and summer education assistant with the Clinical and Continuing Education Program. There, she worked with a team led by Director of Clinical Education Emily Edelman, M.S., CGC, to help enhance their website, which provided clinical genomics education offerings to health care providers looking to integrate genetics and genomics into their practice.

Elizabeth Charnysh receives her pin during the Summer Student Program.

“Ever since my first summer in the SSP, I wanted to work at JAX,” says Charnysh. “Researchers were not at JAX for personal gain, but to really make an impact in the field of genomics. The work culture was infectious. Everyone seemed dedicated to their work and how it impacted the goals of the whole organization. I kept a lookout for open positions related to genetic counseling. I left direct patient care a bit earlier than I expected, but my heart was set on working here. I told myself if there was ever an opportunity to pursue a professional career at JAX with my genetic counseling background, I would take it.”

The results are in

For over three years, Charnysh gained clinical experience as a genetic counselor at Yale New-Haven Health in the Smilow Cancer Genetics and Prevention Program. Then, the position she had hoped for opened: JAX was looking for another genetic counselor. Joining JAX in 2023, Charnysh became one of three genetic counselors supporting the Lee lab under the direction of Associate Director of Genetic Counseling Kunal Sanghavi, MBBS, M.S., CGC.

Scientific Director and Professor Charles Lee, Ph.D., FACMG, in collaboration with J. Scott Roberts, Ph.D., of the University of Michigan, was awarded a $3.4M NHGRI grant to study the ethical, legal and social implications of workplace genomic testing (wGT). Recently, the team published the first-ever real-world study on employee behaviors after receiving wGT. Published in Genetics in Medicine, the article reports on a survey of employees at a large U.S. health care system who were offered genetic testing through their employer. The wGT assessed hereditary cancer risk, hereditary heart disease risk and medication response, also known as pharmacogenomic testing. From those who decided to participate in the genetic testing, 776 employees responded to the survey and 418 reported that they underwent the wGT and received results.

In a press release issued by JAX, Charnysh and her colleagues showed that employees who took the test and reported they learned of an increased risk for cancer or heart disease were significantly more likely to engage in health services and make behavior changes, indicating wGT may promote changes in health behavior and the way employees use health care services.

“This is the first study of its kind, and we are continuing to explore further the potential policy and legal implications,” says Charnysh.

The sky’s the limit: JAX integrates genetic counselors into genome medicine research

When establishing The Jackson Laboratory for Genomic Medicine in Farmington, CT, a decade ago, Lee understood the need for genetic counselor perspectives in the research field. He has built up two core groups of genetic counselors. One team focuses solely on research, like Charnysh, while the other centers around providing clinical genetic and genomic education.

“We have been empowered to perform our research and to approach genetics and genomic testing from our unique genetic counseling perspective, keeping the patient at the forefront of our efforts. We bring our genetic counseling experience and content expertise to effective project management of ELSI and clinical research projects. Kunal Sanghavi, my manager, has relentlessly pursued a vision of building a team of genetic counselors that does this kind of work, and I am very thankful to be part of it,” says Charnysh.

About the Summer Student Program

The Summer Student Program at The Jackson Laboratory boasts a rich history characterized by a commitment to providing young minds with an immersive and transformative research experience. The program has served as a beacon for nearly 3,000 aspiring scientists, driving curiosity and innovation while leaving a lasting impact on the greater scientific community. While the SSP has evolved since its inception, the program ensures that students with a range of diverse backgrounds, experiences and perspectives benefit from the opportunity to develop both technical scientific skills and critical problem-solving abilities. JAX Summer Student Fellows join a vast network of notable alumni who have made significant contributions in a wide range of fields, including advances in biomedical research, academia and biotech.