Revolutionary coding standard to transform rare disease diagnosis

When Ezra Barnes was 4 months old, he was unable to sit without support and later failed to reach other developmental milestones, prompting his worried parents to consult several medical experts.

“The doctors all came back to us to say that they didn’t have a diagnosis,” said his mother, Coryssa Barnes, of Henderson, North Carolina. “We had a mix of anxiety and nerves because you don’t want anything to be wrong with your kid.”

After a year, Ezra was officially diagnosed at UNC Health with a rare neurodevelopmental disorder known as CTNNB1 syndrome. First described in 2012, the syndrome results in genetic changes affecting the Catenin Beta-1 protein and is distinguished by developmental delays, intellectual disability and speech impairment.

Melissa Haendel, a distinguished professor of genetics at the UNC School of Medicine, and collaborators at the Monarch Initiative are helping rare disease patients navigate the health care system by coordinating the Mondo Disease Ontology, a better source for rare disease knowledge.

Without adequate information, physicians find it hard to diagnose and treat patients with rare diseases, said Haendel, an expert on precision health and translational informatics. “Mondo expedites this process by gathering fragmented rare disease knowledge from around the world and associating it with one simple diagnostic code that will help patients get on the right path earlier.”

Epic — the nation’s most widely used electronic health record system — allows health systems using IMO Core to use Mondo disease codes directly. Mondo disease codes will be available within the year across UNC Health’s 20 hospitals and more than 900 clinics.

Rare disease challenges

Rare diseases are challenging to diagnose due to scattered and inconsistent information across medical databases. Without quick and easy access to rare disease knowledge, physicians may give delayed or incorrect diagnoses. This is especially a concern for those in rural or primary care settings who are not experts in rare and genetic disease.

“Oftentimes, patients with a rare disease never get past their primary care physician,” said Haendel. “We can help build clinical decision support tools much further upstream. Together with UNC Health, we aim to help primary care physicians identify symptoms, run tests and get their patients referred to a specialist as soon as possible.”

Mondo works by consolidating rare disease knowledge and terminology from multiple expert medical databases in an AI-friendly way into one Mondo “code.”

Upon diagnosis, the code is added to the patient’s electronic health record to help other physicians and researchers define, track, pay for and research rare diseases. Mondo introduces nearly 5,000 new rare disease codes and updates more than 25,000 related disease codes in the Epic system.

“I’ve always said that having a rare disease diagnosis is like finally having a name,” said Haendel. “And if the health system can’t count rare diseases through coding, then rare disease patients won’t count. And they deserve to be heard and seen, no matter how rare the condition.”

Barnes said that having the right diagnosis and a code for it was critical for her 5-year-old son, who is nonverbal and requires mobility devices but flourishing in his own way.

“If we didn’t push for a diagnosis, we would have missed out on an opportunity to know more about his syndrome and the best steps to take in terms of resources, appointments, decisions, specialties and medications,” she said.

Thanks to Mondo, other children and adults will be given an EHR name, bringing quick access to treatments, research and a community of others who understand what they’re going through.

“I really think it’s important for people to find their people, especially in the rare disease community,” said Barnes. “It is such a different world and it’s hard to relate to people who don’t get it.”