Cloud-based EHR provider Practice Fusion recently launched a new program designed to help providers diagnose rare diseases. The program leverages predictive data models developed from retrospective studies conducted using over 38 million records from Practice Fusion’s de-identified clinical database.
In the U.S., a disease or condition is considered “rare” if it affects fewer than 200,000 persons. Although a particular rare disease may only afflict a few thousand Americans, there are over 30 million Americans suffering from rare diseases in general. With Practice Fusion’s new offering, if a patient is identified as having characteristic clinical markers of a rare disease included in its rare diseases program, the provider is notified during the patient visit through clinical decision support advisories in the EHR. The provider may then access information on the rare disease and learn about available testing to potentially confirm or rule out a diagnosis. These insights can help deliver better, safer, and more efficient care for patients, further demonstrating Practice Fusion’s commitment to helping practitioners provide personalized medicine for their patients.
“Patients with a rare disease often present with nonspecific symptoms that can mimic a myriad of other more common disorders,” said Richard Loomis MD, vice president, and chief medical officer of Practice Fusion. “The journey to diagnosis is seldom straightforward. Many patients go years without appropriate diagnosis or treatment, potentially with severe, adverse health consequences.”
As a result of the sheer number of different rare diseases combined with the low prevalence of each one, finding a correct diagnosis remains a challenge. Forty percent of rare disease patients are misdiagnosed more than once. Moreover, it takes an average of 4.8 years before a person with a rare disease receives the appropriate diagnosis, often only after visits to multiple physicians. (3)
“As someone with a rare disease who searched for a diagnosis for two years before doctors could give it a name, I personally have experienced the agony that comes with not knowing,” said Matt Douglass, co-founder and senior vice president of customer experience at Practice Fusion. “Learning that I wasn’t alone in dealing with this disorder was an immense relief. I’m proud to work at a company whose mission helps more patients gain this peace of mind.”