Connecting More People to Optimal Rare Disease Care
Children’s National Rare Disease Institute
“We have to network because expertise for rare disease is scattered across the globe.”
-Marshall Summar, M.D., Director, Children’s National Rare Disease Institute
In January of 2018, we were proud to make a multi-year commitment to support the work of Children’s National Rare Disease Institute (CNRDI) at Children’s National Health System in Washington, D.C. That support established the Rare Disease Network at CNRDI. The “hub and spoke” model of the network exists to improve rare disease care in the US and internationally.
CNRDI is the central hub of the network and a first-of-its-kind, National Organization for Rare Disorders (NORD)-designated clinical Center of Excellence focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.
“CNRDI is really an answer to what’s been going on in the field of genetics in the last 30 years,” said Marshall Summar, M.D., director of CNRDI when we sat down with him at the 2019 NORD Summit.
“In the 1980s we could diagnose maybe 15 rare diseases and treat about 10 of them. Now we can diagnose 8,000 different conditions. We have treatments for more than 600. And in many ways, there’s a recognition that the traditional medical model just cannot address that. Physicians can’t remember 8,000+ conditions. We have to network because expertise for rare disease is scattered across the globe. CNRDI’s goal is to bring that expertise together, to build tools that can be shared across these different centers.”
“We’re already seeing impact,” he added.
The support the company gave to create the Rare Disease Network is fueling clinical expansion at the Institute and beyond at affiliated rare disease programs (the spokes). In December 2019, CNRDI reported significant growth over 2018 achievements, including:
A 15% increase in physician visits and a 12% increase in genetic counseling visits.
A 75% increase in digital medicine (telemedicine) consultations allowing for real-time evaluation of patients and families in their homes.
More than double the number of genetic counseling educational videos available to families in English and Spanish to help them prepare for a visit to CNRDI. These videos, presented on the BearGenes app, explain DNA testing, chromosome testing and how genes are inherited, for example.
“We have the world’s largest number of clinical geneticists in one place. But we also have all the other specialists who work with patients who have rare disease,” added Dr. Summar. These specialists use telemedicine to digitally connect with the patient and their family, provide disease education about the rare condition, discuss treatment plans and best practices, and coordinate with their local physician, who may not be familiar with the rare disorder, so that the patient can receive as much of their care at home as possible.
CNRDI also has a dedicated clinician who advises physicians on what to do when their newborn patient has an abnormal result on their newborn screening diagnostic test. The Institute also provides this service to US military families at home and abroad.