Insights from multidisciplinary rare disease visits: Findings from wrap-up documents and participant surveys in a national diagnostic study

Abstract

Background

This study is part of the Undiagnosed Diseases Network (UDN). The UDN is designed to improve diagnostic evaluation for patients who have defied diagnosis as well as to identify the underlying mechanism of disease. We explored recommendations made as part of the UDN evaluation, the number and type of specialists involved in that evaluation, and factors related to changes in care following the UDN visit. We used two datasets: visit wrap-up documents and post-evaluation surveys. We created distinct statistical models for each dataset to further understand the patient experience after a multidisciplinary rare disease visit.

Results

Across datasets, the most common primary symptom category was neurology. The mean number of evaluations per participant was 3.8 with the most common being Genetics. The mean number of recommendations per participant was 4.9; 81.5 % had ≥ 1 recommendation. The most common recommendation was referral to a medical provider. Having a diagnosis within 3 months of the UDN visit was associated with more evaluations, but fewer recommendations.

Conclusion

UDN visits typically involve evaluations by multiple specialists, potentially resulting in recommendations for downstream care. In the survey sample, over half the participants cited their intention to follow the recommendations made. Maximizing communication about ongoing care management following the UDN visit may also optimize care. Future research can explore how and why such characteristics matter.