Despite increasing development and access to advanced medical testing, many patients with chronic illnesses suffer not only from their symptoms, but also from the financial, psychological and emotional difficulties of not having a diagnosis. In an effort to combat this widespread issue, the NIH formed the Undiagnosed Diseases Network (UDN) in 2014, an expansion of the Undiagnosed Disease Program (2008-2010). This study was designed to explore the effects of collaboration between clinical and research experts in conducting multidisciplinary evaluations to ultimately understand the cause of patients’ symptoms. To date, the development of UDN has led to 48 manuscript publications and 248 ClinVar submissions, underlying the significance of this project.

Since its establishment in 2014, the UDN has expanded to include seven clinical sites, two sequencing cores, a central biorepository, a metabolomics core, a model organisms screening center and a coordination center. This network seeks to mitigate communication and knowledge gaps between physicians by sharing case information on a private cloud, and by collecting more data through encouraging patient use of social media to connect with people experiencing similar symptoms.

Thus far, the study has evaluated 877 patients, diagnosed 225 patients, and defined 31 syndromes. From these diagnoses, physicians were able to adjust the care of these patients by recommending changes to current treatment, narrowing diagnostic testing or suggesting variant-specific genetic counseling. Furthermore, the UDN has collected psychosocial data and published patient narratives to illustrate the difficulties of living with an undiagnosed disease and to encourage compassionate medical care. While the UDN model is currently limited in its ability to serve patients living near clinical sites, its success highlights the importance of coordinated health care on a broader scale.  

References

Splinter, K, Adams, D,m Bacino, CA, Bellen, HJ, Benstein, JA, Cheatle-Jarvela, AS, Eng, CM, Esteves, C, Gahl, WA, Hamid, R, Jacob, HJ, Kikani, B et al. for the Undiagnosed Diseases Network. (2018). Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med, 379, 2131-2139.

Spillmann, RC, McConkie-Rosell, A, Pena, L, Jiang, YH, Undiagnosed Diseases Network, Schoch, K, Walley, N, Sanders, C, Sullivan, J, Hooper, SR, Shashi, V. (2017). A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet J Rare Dis, 12(1), 71.

Macnamara, EF, Schoch, K, Kelley, EG, Fieg, E, Brokamp, E, Undiagnosed Diseases Network, Signer, R, LeBlanc, K, McConkie-Rosell, A, Palmer, CGS. (2018). Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. J Genet Couns, 2019, 1-8.