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BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.

Characteristics of undiagnosed diseases network applicants: implications for referring providers.

Collaborators (182)

Adams DR, Alejandro ME, Allard P, Ashley EA, Azamian MS, Bacino CA, Balasubramanyam A, Barseghyan H, Batzli GF, Beggs AH, Bellen HJ, Bernstein JA, Bican A, Bick DP, Birch CL, Bonner D, Boone BE, Bostwick BL, Briere LC, Brown DM, Brush M, Burke EA, Burrage LC, Chen S, Clark GD, Coakley TR, Cogan JD, Cooper CM, Cope H, Craigen WJ, D'Souza P, Davids M, Davidson JM, Dayal JG, Dell'Angelica EC, Dhar SU, Dillon A, Dipple KM, Donnell-Fink LA, Dorrani N, Dorset DC, Douine ED, Draper DD, Dries AM, Eckstein DJ, Emrick LT, Eng CM, Enns GM, Eskin A, Esteves C, Estwick T, Fernandez L, Fisher PG, Fogel BL, Friedman ND, Gahl WA, Glanton E, Godfrey RA, Goldstein DB, Gould SE, Gourdine JF, Groden CA, Gropman AL, Haendel M, Hamid R, Hanchard NA, Handley LH, Herzog MR, Holm IA, Hom J, Howerton EM, Huang Y, Jacob HJ, Jain M, Jiang YH, Johnston JM, Jones AL, Koeller DM, Kohane IS, Kohler JN, Krasnewich DM, Krieg EL, Krier JB, Kyle JE, Lalani SR, Christopher Lau C, Lazar J, Lee BH, Lee H, Levy SE, Lewis RA, Lincoln SA, Lipson A, Loo SK, Loscalzo J, Maas RL, Macnamara EF, MacRae CA, Maduro VV, Majcherska MM, Malicdan MCV, Mamounas LA, Manolio TA, Markello TC, Marom R, Martínez-Agosto JA, Marwaha S, May T, McConkie-Rosell A, McCormack CE, McCray AT, Merker JD, Metz TO, Might M, Moretti PM, Mulvihill JJ, Murphy JL, Muzny DM, Nehrebecky ME, Nelson SF, Scott Newberry J, Newman JH, Nicholas SK, Novacic D, Orange JS, Carl Pallais J, Palmer CGS, Papp JC, Parker NH, Pena LDM, Phillips JA 3rd, Posey JE, Postlethwait JH, Potocki L, Pusey BN, Reuter CM, Robertson AK, Rodan LH, Rosenfeld JA, Sampson JB, Samson SL, Schoch K, Schroeder MC, Scott DA, Sharma P, Shashi V, Silverman EK, Sinsheimer JS, Smith KS, Soldatos AG, Spillmann RC, LeBlanc K, Stoler JM, Stong N, Sullivan JA, Sweetser DA, Tifft CJ, Toro C, Tran AA, Urv TK, Valivullah ZM, Vilain E, Vogel TP, Waggott DM, Wahl CE, Walley NM, Walsh CA, Wangler MF, Ward PA, Waters KM, Webb-Robertson BM, Westerfield M, Wheeler MT, Wise AL, Wolfe LA, Worthey EA, Yamamoto S, Yang Y, Yu G, Zastrow DB, Zhao C, Zheng A.

Author information

1
Division of Medical Genetics, Department of Pediatrics, Duke Health, Box 103857, Durham, NC, 27710, USA.
2
Department of Allied Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
3
Ethics and Genomics Program, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
4
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
5
National Human Genome Research Institute, NIH, Bethesda, MD, USA.
6
Division of Medical Genetics, Department of Pediatrics, Duke Health, Box 103857, Durham, NC, 27710, USA. vandana.shashi@duke.edu.

Abstract

BACKGROUND:

The majority of undiagnosed diseases manifest with objective findings that warrant further investigation. The Undiagnosed Diseases Network (UDN) receives applications from patients whose symptoms and signs have been intractable to diagnosis; however, many UDN applicants are affected primarily by subjective symptoms such as pain and fatigue. We sought to characterize presenting symptoms, referral sources, and demographic factors of applicants to the UDN to identify factors that may determine application outcome and potentially differentiate between those with undiagnosed diseases (with more objective findings) and those who are less likely to have an undiagnosed disease (more subjective symptoms).

METHODS:

We used a systematic retrospective review of 151 consecutive Not Accepted and 50 randomly selected Accepted UDN applications. The primary outcome was whether an applicant was Accepted, or Not Accepted, and, if accepted, whether or not a diagnosis was made. Objective and subjective symptoms and information on prior specialty consultations were collected from provider referral letters. Demographic data and decision data on network acceptance were gathered from the UDN online portal.

RESULTS:

Fewer objective findings and more subjective symptoms were found in the Not Accepted applications. Not Accepted referrals also were from older individuals, reported a shorter period of illness, and were referred to the UDN by their primary care physicians. All of these differences reached statistical significance in comparison with Accepted applications. The frequency of subspecialty consults for diagnostic purposes prior to UDN application was similar in both groups.

CONCLUSIONS:

The preponderance of subjective and lack of objective findings in the Not Accepted applications distinguish these from applicants that are accepted for evaluation and diagnostic efforts through the UDN. Not Accepted applicants are referred primarily by their primary care providers after multiple specialist consultations fail to yield answers. Distinguishing between patients with undiagnosed diseases with objective findings and those with primarily subjective findings can delineate patients who would benefit from further diagnostic processes from those who may have functional disorders and need alternative pathways for management of their symptoms.

TRIAL REGISTRATION:

clinicaltrials.gov NCT02450851 , posted May 21st 2015.

KEYWORDS:

Genomics; Health policy; Medically unexplained physical symptoms; Medically unexplained symptoms; Undiagnosed diseases

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