Q&A: EHR system helps providers diagnose rare diseases

Practice Fusion, a provider of cloud-based electronic health record (EHR) platforms, has developed a new program with the capability of assisting physicians in diagnosing rare diseases. 

In an exclusive interview with Clinical Innovation & Technology, Richard Loomis, MD, Chief Medical Officer and VP of Informatics at Practice Fusion, and Joe Vasey, PhD, Principle Data Analyst, Informatics at Practice Fusion, spoke more about the company and its new program.

Clinical Innovation & Technology: Were there any difficulties working with so much information?

Practice Fusion: There is nothing specifically about the rare disease program that presents data challenges for us. Our EHR solution has been cloud-based from the beginning, so we are very familiar with the myriad challenges of securely handling large volumes of data.  

Is the program an add-on to EHRs that have already been implemented in hospitals? Will it help with the inefficiencies of EHRs?

Because our EHR is cloud-based and not dependent on individual software upgrades, the rare disease program is available to all providers using Practice Fusion’s EHR. There are no additional downloads, and nothing to install.  The rare disease program builds on our existing clinical decision support (CDS) functionality already available to all providers using Practice Fusion’s EHR.  It is not connected with any program deployed outside our EHR, such as a hospital.

We are continuously looking for opportunities to place CDS tools in the hands of our EHR clinical users to help them give the best care possible to their patients. One of the goals of the rare disease program is to help providers using our EHR to identify more quickly which of their patients may be suffering from a rare disease that, if detected early, can be more effectively treated. Patients with a rare disease often present nonspecific symptoms that mimic a myriad of other more common disorders, so the road to a correct diagnosis is often not straightforward. It takes an average of 4.8 years before a person with a rare disease receives the right diagnosis, often after visits to multiple physicians and potentially only after serious symptoms and comorbidities develop. In turn, this often leads to a diagnosis only being made once the patient has entered the hospital setting. Because most of the providers using Practice Fusion’s EHR are in the ambulatory primary care setting, the program may begin to help providers diagnose patients at risk for a rare disease at an earlier stage.

The rare disease program is a great example of how cloud-based EHR technology may be the most effective way to tackle large-scale healthcare challenges by quickly putting decision support tools directly in the hands of healthcare professionals to help them treat patients. We firmly believe that these types of programs are a realization of a key public policy goal like digitizing health information—to use the power of technology to help improve patient care.

How accurate is the program when giving physicians recommendations on patient diagnosis?

The program does not recommend a diagnosis or a course of treatment. At all times, the provider is exercising her or his professional medical judgment in treating her or his patients. 

The program notifies a provider that a patient whose chart she or he is reviewing has markers indicating that that patient may be at risk for a rare disease that, if not detected early, may have significantly adverse medical consequences. The provider is also provided with information from peer-reviewed literature about treatment options. That information may include, for example, the identification of certain diagnostic tests that might confirm or rule out a diagnosis. Ultimately, it is the provider, using her or his independent medical judgment and in consultation with her or his patient, that decides on the appropriate course of action. 

The accuracy of the peer-reviewed clinical guidelines that inform ours and other EHR solutions’ clinical decision support tools are always in a state of constant evaluation. From time to time, clinical guidelines are revised based on that content evaluation.

What challenges did you face when developing this program? Where do you see this program heading in the next 5 or 10 years?

We did not encounter anything specifically about the rare disease program that was uniquely challenging.

We continuously strive to enhance our services, including our clinical decision support tools. There are, for example, over 7,000 identified rare diseases.  As a result, there is a significant opportunity to develop additional support tools aimed to help providers identify and treat patients who have a rare disease that have not yet been diagnosed.

We are thinking through other ways to enhance or augment both how our clinical tools engage with clinical data we hold on behalf of our healthcare providers, as well as how they can access the relevant information in ways that could further enhance their practices.