Kimberly LeBlanc, Genetic Counselor, Director of the Undiagnosed Diseases Network (UDN) Coordinating Center at Harvard Medical School, discusses approaching variants of uncertain significance in rare diseases.
The UDN is a NIH-funded research network with the goal of bringing together researchers and clinicians to solve difficult medical conditions. The organization offers multi-disciplinary clinical evaluations and access to genome sequencing and emerging genomic approaches to diagnose patients with rare diseases.
At the 2025 World Orphan Drug Congress, Ms. Leblanc discussed strategies for approaching variants of uncertain significance in rare diseases. She explained the lack of understanding many of the genetic changes that come up on genome or exome sequencing and panel testing. Therefore, it is important to have strategies to address the management and treatment plans for these patients. Additionally, it is important to figure out how to lead research that can provide a better understanding of these variants and whether or not they are disease causing.
Ms. Leblanc stresses the importance of genetic testing and how empowering a diagnosis can be in deciding courses of action in treatment and management. Through the UDN’s work in sequencing, genetic variants have been identified and were able to lead to a patient’s diagnosis, and therefore the diagnosis of many others.
To learn more about diagnosing rare diseases, visit https://checkrare.com/diagnosis/