The Role of Genetic Counselors in Genomic Mainstreaming

In recent years genomics has been propelled by increased knowledge, accessibility, and new technologies to be recognized as a critical element of care. “Genomic mainstreaming” is a method to integrate genomics into routine clinical care by enabling nongenetics nurses and physicians to initiate genetics discussions and identify at-risk individuals. While the benefits are substantial, there are many roadblocks to mainstreaming. Sitting at the intersection of patient care and specialty genetics, Genetic Counselors are uniquely equipped to facilitate this transition but face significant challenges along the path to genomic mainstreaming. To prepare for this change, PhenoTips invited leaders in the genetic counseling space to share their perspectives and experiences.

Laura Hercher is a genetic counselor and the Director of Student Research at the Sarah Lawrence College Joan H. Marks Graduate Program in Human Genetics, where her teaching and research focus on ethical, legal and social issues in genomic medicine. As a journalist and commentator, she has written about genetics and society for a wide range of audiences, in publications including Scientific American, the MIT Technology Review, the Nation Magazine and the New York Times. For her leadership in the field, Laura was the 2024 recipient of the Natalie Weissberger Paul National Achievement Award from the National Society of Genetic Counselors. Currently, she is working on a book examining the implications of current trends in the use of reproductive genetic medicine, tentatively entitled “The Ghettoization of Genetic Disease.”

Demetra Georgiou is a healthcare professional with nearly 15 years of experience working within genomics in the NHS. Trained in genetic counselling and service design, Demetra specializes in innovation and has developed service blueprints, resources, and strategies and has been a committee member contributing to NICE guidelines. In her current role as Transformation Manager at Imperial College Healthcare NHS Trust Demetra explores how the patient and clinician experience can be transformed with openness, empathy, and digital solutions. As the current Chair of the British Society for Genetic Medicine, she is deeply committed to bridging the gap between genetics and mainstream medicine by fostering collaboration and increasing access to networking and education opportunities.

Jill Stopfer is a licensed genetic counselor and Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, working with individuals and families with hereditary risks of cancer, and on a number of research projects looking to optimize the way genetic counseling is offered considering new testing and practice standards. Jill is a graduate of the University of Michigan in Ann Arbor, with a Masters degree in Human Genetics and Genetic Counseling. She was one of the first genetic counselors in the country to focus primarily in oncology and has worked over the years on numerous educational and policy initiatives.

In this discussion, the international panel of genetic counselors discuss:

• Visions for genomic mainstreaming
• Changing roles of genetic counselors under mainstreaming
• Past, present, and future barriers to genomic mainstreaming
• Examples of current genomic integrations