August 12, 2020
The Challenges of Diagnosing Rare Genetic Diseases
I recently had the opportunity to contribute to a New York Times article titled “The Wilderness of Rare Genetic Diseases and the Parents Navigating It”, about the field of rare genetic diseases, and the experiences of families pursuing a diagnosis and treatment for their children. The article sheds light on personal journeys of parents that have children living with a rare disease and how their efforts have charted a path to more advanced treatment options.
Before a rare disease patient can be treated, the patient must be accurately diagnosed. Unfortunately, arriving at a correct diagnosis for rare disease patients can take five years or more. Genetic sequencing of DNA is often used to identify a potential rare disease, given two thirds of rare diseases appear in childhood, but there are currently many challenges associated with this process. When sequencing DNA, many changes are often found, but figuring out which change causes a disease can be very difficult. With 6,000+ total rare diseases and between five and 10 new rare diseases being described in scientific literature each week, it has become increasingly challenging for healthcare providers to be aware of the characteristics of each one.
To help patients and doctors with this problem and arrive at accurate diagnoses faster, leveraging technology is crucial. My team at Children’s National Medical Center in Washington, D.C., has been working to pioneer the use of telegenetic consultations for patients – specifically those who are searching for a diagnosis and may have a rare disease. Our approach uses cutting-edge virtual tools like facial recognition, video appointments, and a triaging system to deliver genetic assessments and counseling remotely to patients and primary care physicians (PCPs). Since the pilot began in 2019, the average wait time for a patient to see a specialist has decreased from 3-4 months to only 6-8 days.
This pilot will continue to evolve the way we think about genetic consultations and help the many families searching for a diagnosis. I’m proud to contribute to shortening the diagnostic odyssey with support from the Global Commission, and Iook forward to progressing this pilot project, helping patients and their families reach a diagnosis more accurately and efficiently.
Marshall Summar, M.D., is the Director of the Rare Disease Institute and Chief of the Division of Genetics and Metabolism at Children’s National Medical Center in Washington, D.C., and holds the Margaret O'Malley Professorship in Genetic Medicine. Dr. Summar is also a Professor of Pediatrics at the George Washington School of Medicine and is the Board Chairman for the National Organization for Rare Disorders (NORD). He is a member of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease.