The Nih-Undiagnosed Disease Program: Improving Access For Patients and Families

Intro The NIH-Undiagnosed Diseases Program (UDP), the Undiagnosed Disease Network and the Undiagnosed Disease Network International are collaborative programs that attempt to solve the most challenging medical mysteries using team science and innovative technologies. Due to the pandemic or the severity of the patient’s medical condition making travel impossible, an increasing number of patients have been evaluated remotely. Here we present our experience using telehealth to evaluate these medically complex individuals.

Methods Patients applying for the NIH-UDP who are unable to travel are evaluated using the same criteria employed for all patients. If a patient is accepted, the UDP team coordinates clinical evaluations by telehealth, with support from local healthcare teams, to perform physical assessments and collect samples for genetic testing from patients and family members. In some cases, telehealth assessments are followed by shorter, more targeted in-person evaluations at the NIH Clinical Center.

Results From 2018 to 2023, the NIH-UDP performed remote evaluations on 48 patients; 33/48 were adults and 24/48 were international. Thirty of 48 remote evaluations involved a telehealth assessment and 15 of 48 (31%) received a diagnosis.

Conclusions The use of telehealth in the NIH-UDP is cost effective and efficient. The advantages of telehealth include: 1) timely evaluation of patients too sick to travel; 2) better planning for in-person evaluations for complex patients; 3) facilitating strong collaborations with the home team for improved patient management; and 4) increasing the number and diversity of patient referrals from providers worldwide.