A new program from Practice Fusion utilizes predictive data models to help providers identify and diagnose patients with rare diseases.

San Francisco, CA, June 23, 2016Practice Fusion, the nation’s largest cloud-based Electronic Health Record (EHR) platform1, 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.2 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.”

About Practice Fusion

Practice Fusion is the #1 cloud-based electronic health record (EHR) platform for doctors and patients in the U.S., with a mission of connecting doctors, patients and data to drive better health and save lives. By facilitating over five million patient visits a month with more than 600 connected partners, Practice Fusion helps coordinate care within the largest healthcare ecosystem in the U.S. As the most widely used cloud-based ambulatory EHR, Practice Fusion is helping to reshape the future of healthcare. For more information, please visit www.practicefusion.com.

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1 SK&A, Report onPhysician Office Usage of Electronic Healthcare Records Software (February 2016)
2 Global Genes. Rare diseases: facts and statistics. Available at: [ ]https://globalgenes.org/rare-diseases-facts-statistics Last accessed June 2016.
3 Engel PA, et al. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. Journal of Rare Disorders 2013: Vol. 1, Issue 2.