Using telehealth to revolutionize the speed of making rare disease diagnoses

For a person living with a rare disease, it can take five years or longer to receive an accurate diagnosis. With more than 40% of patients initially misdiagnosed, this “diagnostic odyssey” can have serious and long-term health consequences for the 300 million individuals affected by rare diseases and their families. It is also incredibly frustrating.

A key factor contributing to initial misdiagnoses is the shortage of clinical geneticists. Despite an estimated three-quarters of rare diseases being genetic in origin, there are significant barriers in accessing appropriate genetic counseling.

Telehealth can help break down these barriers.

One of the ripple effects of Covid-19 is increased adoption of telehealth. In the U.S., health care providers are seeing 50 to 175 times the number of telehealth visits they saw before the pandemic, according to a recent McKinsey study, and more than half of providers now view telehealth more favorably. For patients, telehealth can improve access and eliminate added costs and burdens on families. The informal setting can also encourage more honest conversations with physicians.

Although the rare disease field has been striving for innovation in patient care long before the global pandemic struck, the broad acceptance and evolution of telehealth has the potential to change the diagnostic journey for patients through the adoption of telegenetic consultations.

Children’s National Hospital in Washington, D.C., has been working with Microsoft to pioneer the use of telegenetic consultations for patients and, more specifically, for those who are searching for a diagnosis, potentially for a rare disease. Since the inception of this pilot program in 2019, the average time a patient waits to see a clinical geneticist has decreased from three to four months to just six to eight days.

This pilot is supported by the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease, which was formed in 2018 to bring the rare disease and technology communities together to overcome the barriers to diagnosing these diseases, of which there may be as many as 8,000, faster and more accurately.

This innovative pilot uses virtual tools such as facial recognition, video appointments, and a triage system to deliver genetic assessments and counseling remotely to patients and their primary care physicians. Of the 30,000 patients who have been seen remotely by Children’s National since the start of the pandemic in March, more than 1,500 have been seen by the hospital’s rare disease team.

“There is a unique opportunity in the use of telemedicine to do some transformative things for the diagnosis and care of patients with rare diseases,” the director of the pilot, Dr. Marshall Summar, told us. Like us, he is a member of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. “We are evaluating ways to depart from the traditional model based on a brick and mortar visit and see what is truly in the patients’ best interest,” said Summar, who is also the director of the Rare Disease Institute and chief of genetics and metabolism at Children’s National Hospital.

The pilot is also tackling other common challenges in delivering health care, including potential language barriers among global health care providers and patients. Children’s National is working with Microsoft to use technology for real-time translations, allowing specialists in various countries to discuss the same patient who may have a rare disease. By connecting patients to rare disease specialists more quickly and enabling those specialists to partner with local providers to deliver care, the time to diagnosis can be accelerated.

Here are five things we have learned so far from the pilot:

“Intelligent triaging” allows for more appropriate use of specialty genetic services. The triage app allows primary care physicians to collect and enter patient information by using technology to streamline the process to make a referral to a rare disease specialist. By using the app, clinicians can solicit guidance from specialists and geneticists, including testing that might be needed before a patient’s first consult. That helps filter out patients who don’t have a rare disease, reducing unnecessary testing and ensuring effective use of resources.

Telegenetic consultation strengthens communication across the health team. Specialists can communicate with primary care physicians and other health care providers, sharing patient information to make more informed decisions regarding diagnosis and care. By expanding communication and adding structure to the consultation process, the team can impart information more efficiently, which can lead to faster diagnoses.

Telegenetic visits can enhance the current model of care. By providing initial insights into a patient’s condition, potential diagnosis, and care plan, virtual visits help providers streamline subsequent in-person visits. Virtual visits are especially important during the Covid-19 pandemic, when only patients with the most critical conditions should go to doctors’ offices or medical centers for in-person consultations.

Telehealth helps reduce costs, improve access, and increase efficiency. Transportation costs, missed work, and frequent in-person visits are common challenges for patients seeking care from clinical geneticists. In addition, the relatively few specialists are typically located in urban areas, making it difficult for patients outside those geographies to seek care. Remote care makes it easier to access these specialists and eliminates added costs and burdens on families. The pilot has shown that virtual visits are shorter and more focused, yet still rate high in patient satisfaction.

Virtual visits provide a window into patients’ lives, helping improve patient/provider communication. When health care providers are able to see patients in their home environments, it opens the door for more personal and honest discussions around their day-to-day struggles. Providers are able to form better connections with families by observing them at home, noticing behaviors that may not occur in a clinical setting, and recommending changes that can lead to more positive health outcomes.

Those working on the pilot will continue integrating feedback from physicians to further shorten the path to diagnosis for those living with rare diseases. We expect to expand pilot testing beyond Washington, D.C., to other U.S. sites in 2021, including three to five regional pediatric societies and centers with genetic expertise or capabilities to treat rare disease, before expanding to national pediatric centers and societies and other countries in the future.