Teleneurology in Managing Rare Neurologic Diseases
Christina T. Loguidice
In the United States, approximately 6% to 8% of the population, or 25 million people, have a rare disease.1,2 Currently, more than 6,800 conditions qualify as a rare disease, which, in the United States, is considered to be a condition that affects fewer than 200,000 persons.1,2 Subsequently, such diseases can be difficult to study. Single institutions often have small sample sizes and funding to conduct multicenter studies may be lacking. At a poster session during the American Academy of Neurology (AAN) 67th Annual Meeting, researchers studying progressive multifocal leukoencephalopathy caused by the JC virus, provided insights on how teleneurology might be used to improve rare disease research and the care of patients with rare diseases.1
Rare Disease Report had the opportunity to discuss the study in greater detail with the presenters, Igor J. Koralnik, MD, Division of Neuro-Immunology, Department of Neurology, and the Center for Virology and Vaccine Research, Department of Medicine, Beth Israel Deaconess Medical Center (BIDMC), Harvard Medical School, Boston, MA, and Shruti P. Agnihotri, MD, a former Neuro-Infectious Diseases fellow with Dr. Koralnik at BIDMC, and now at the Division of Neuro-Immunology, Department of Neurology, The University of Alabama at Birmingham.
What is teleneurology?
Teleneurology is a form of telemedicine that uses diverse technologies to provide neurologic consultation from a distance. This might include telephone calls, e-mails, and videoconferencing. We also refer to this as cyberconsults.
What led you to provide teleneurology services? Please also describe your process.
Because we’re involved in clinical and basic research on JCV-associated diseases at BIDMC in Boston, we receive many requests for advice on such cases. We found these requests to be time-consuming, so we came up with a process for handling them more efficiently. During the academic year 2013-2014, our neuroinfectious disease fellow Dr. Agnihotri established contact with the requestor to obtain details, imaging studies, and other potentially useful information. Because we preferred to obtain the pertinent information from patients’ primary healthcare providers, if patients or their families contacted us directly, we asked them to have their treating physician contact us. Then, once all available information was obtained, Dr. Agnihotri discussed the case with Dr. Koralnik, and our recommendations were presented to patients’ treating physicians. Patients deemed to be candidates for our research studies were presented with this option, which led some patients to come to our office for a face-to-face consultation.
What kind of requests did you receive regarding JC virus syndromes and what were your findings?
We received 43 requests between July 2013 and June 2014, of which 19% originated in our home state of Massachusetts, 58% from other US states, and 23% from other countries. Based on the data we received, we identified a JC virus syndrome in 33 patients (77%) and other diseases in 8 patients (19%). We were unable to make a diagnosis in 2 cases due to insufficient data. Of the 33 patients with JC virus syndromes, 11 enrolled in our research studies. Thirteen of the 43 requests were for atypical presentations, with the majority being second opinions and inquiries related to the availability of treatment-based clinical trials.
Does teleneurology pose any challenges?
Yes, teleneurology for rare diseases presents many challenges. Ethical and legal factors require careful consideration when providing medical advice without full and direct assessment of a patient, as malpractice is always a concern. Therefore, we find it prudent to take an approach that serves to guide the referring physician, such as by describing the steps we would take to establish the diagnosis and/or determine management if we were to see a similar presentation in our clinic.
What about benefits?
There are definitely numerous benefits, including the satisfaction of providing assistance that is not available locally, access to an expanded pool of patients for research studies and publications, and grateful patients and families who may further support research through philanthropy.
Do you have a take-home message for healthcare providers with regard to teleneurology, or even telemedicine in general?
Teleneurology is an emerging field that provides considerable promise in furthering research and improving the care of patients with rare neurologic diseases; however, the process needs to be a collaborative one, with the disease expert and referring physician working closely together to reduce the challenges and enhance the benefits, particularly when a rare disease straddles several medical specialties.
1. Agnihotri S, Koralnik I. S.O.S. Progressive multifocal leukoencephalopathy: teleneurology for a rare disease. Poster presented at: 67th American Academy of Neurology Annual Meeting; April 18-25, 2015; Washington, DC.
2. Agnihotri S, Koralnik I. Training for a neurology career in a rare disease: the role of cyberconsults. Ann Neurol. 2015;77(5):738-740.
Image "Telecare conference" by Jackhsiao - Own work. Licensed under Public Domain via Wikimedia Commons - https://commons.wikimedia.org/wiki/File:%E8%95%AD%E4%B8%AD%E6%AD%A3%E9%99%A2%E9%95%B7%E9%80%B2%E8%A1%8CTelecare_conference.jpg#/media/File:%E8%95%AD%E4%B8%AD%E6%AD%A3%E9%99%A2%E9%95%B7%E9%80%B2%E8%A1%8CTelecare_conference.jpg