For a person living with a rare disease, it may take five years or more to receive an accurate diagnosis. With more than 40% of patients misdiagnosed at the start, this “diagnostic odyssey” can have serious and long-term consequences on the health of 300 million people affected by rare diseases and their families. It is also incredibly frustrating.
A key factor contributing to initial misdiagnosis is the shortage of clinical geneticists. Despite an estimate three quarters of rare diseases being of genetic origin, there are significant barriers to accessing appropriate genetic counseling.
Telehealth can help remove these barriers.
One of the knock-on effects of Covid-19 is increased adoption of telehealth. In the United States, healthcare providers are seeing 50 to 175 times the number of telehealth visits they saw before the pandemic, according to a recent report McKinsey Study, and more than half of providers now view telehealth more favorably. For patients, telehealth can improve access and eliminate additional costs and burdens for families. The informal setting can also encourage more honest conversations with physicians.
Although the field of rare diseases strove to innovate in patient care long before the global pandemic struck, the wide acceptance and evolution of telehealth has the potential to change the diagnostic journey of patients through the adoption of telegenetic consultations.
National Children’s Hospital in Washington, DC, worked with Microsoft to pioneer the use of telegenetic consultations for patients and, more specifically, for those seeking a diagnosis, potentially for a rare disease. Since the creation of this pilot program in 2019, the average patient wait time to see a clinical geneticist fell from three to four months to just six to eight days.
This pilot is supported by the Global Commission to End Diagnostic Odyssey for Children with Rare Disease, which was formed in 2018 to bring together the rare disease and technology communities to overcome barriers to diagnosing these diseases, which there may be up to 8,000, faster and more precise.
This innovative pilot project uses virtual tools such as facial recognition, video appointments and a triage system to provide remote genetic assessments and counseling to patients and their primary care physicians. Of the 30,000 patients who have been seen remotely by Children’s National since the pandemic began in March, more than 1,500 have been seen by the hospital’s rare disease team.
“The use of telemedicine offers a unique opportunity to do transformative things in the diagnosis and care of patients with rare diseases,” pilot project director Dr. Marshall Summar told us. Like us, he is a member of the World Commission to End the Diagnostic Odyssey of Children with a Rare Disease. “We are evaluating ways to deviate from the traditional model on the basis of a physical visit and see what is really in the best interests of patients,” said Summar, who is also director of the Rare Disease Institute and chief of genetics and metabolism. at the National Children’s Hospital.
The pilot project also addresses other common challenges in healthcare delivery, including potential language barriers among healthcare providers and patients around the world. Children’s National is working with Microsoft to use the 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 allowing these specialists to partner with local providers to provide care, diagnostic time can be accelerated.
Here are five things we’ve learned from the pilot so far:
“Smart triage” enables more appropriate use of specialized genetic services. The triage app allows primary care physicians to collect and enter patient information using technology to streamline the process of referral to a rare disease specialist. Using the app, clinicians can seek advice from specialists and geneticists, including any tests that might be needed before a patient’s first visit. This helps filter out patients who do not have a rare disease, reduce unnecessary testing and ensure efficient use of resources.
The telegenetic consultation strengthens communication within the health team. Specialists can communicate with primary care physicians and other health care providers, sharing patient information to make more informed decisions about diagnosis and care. By expanding communication and adding structure to the consultation process, the team can convey information more effectively, which can lead to faster diagnoses.
Telegenetic visits can improve the current model of care. By providing initial information about the patient’s condition, potential diagnosis, and plan of care, 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 need to visit doctors’ offices or medical centers for in-person consultations.
Telehealth helps reduce costs, improve access and increase efficiency. Transportation costs, absences from work and frequent in-person visits are common challenges for patients seeking care from clinical geneticists. In addition, the relatively few specialists are usually located in urban areas, making it difficult to seek care for patients outside of these geographic areas. Remote care facilitates access to these specialists and eliminates additional costs and burdens for families. The pilot has shown that virtual visits are shorter and more focused, while still being very satisfying for patients.
Virtual visits provide a window into the lives of patients, helping to improve patient / provider communication. When healthcare providers can see patients in their home environment, it opens the door for more personal and honest discussions about their day-to-day struggles. Providers are able to connect better with families by observing them at home, noticing behaviors that may not occur in a clinical setting, and recommending changes that may lead to more positive outcomes for the patient. health.
Those working on the pilot will continue to incorporate physician feedback to further shorten the path to diagnosis for people living with rare diseases. We plan to expand the pilot testing beyond Washington, DC, to other U.S. sites in 2021, including three to five regional pediatric companies and centers with genetic expertise or capabilities to treat rare diseases, before extending them to national pediatric centers and societies and to other countries of the future.
Wolfram Nothaft is Takeda’s physician and chief medical officer. Gregory Moore is an engineer, neuroradiologist, and vice president of Microsoft Health. Yann Le Cam is CEO of EURORDIS-Rare Diseases Europe. Nothaft, Moore and Le Cam are co-chairs of the Global Commission to End the Diagnostic Odyssey of Children with Rare Diseases, which is supported by Takeda, Microsoft and EURORDIS-Rare Diseases Europe.