Characteristics of undiagnosed diseases network applicants

Implications for referring providers

Nicole M. Walley, Loren D.M. Pena, Stephen R. Hooper, Heidi Cope, Yong Hui Jiang, Allyn McConkie-Rosell, Camilla Sanders, Kelly Schoch, Rebecca C. Spillmann, Kimberly Strong, Alexa T. McCray, Paul Mazur, Cecilia Esteves, Kimberly Leblanc, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino & 166 others Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Anna Bican, David P. Bick, Camille L. Birch, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary D. Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Precilla D'Souza, Mariska Davids, Jean M. Davidson, Jyoti G. Dayal, Esteban C. Dell'Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Gregory M. Enns, Ascia Eskin, Tyra Estwick, Liliana Fernandez, Paul G. Fisher, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean Philippe F. Gourdine, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Matthew R. Herzog, Ingrid A. Holm, Jason Hom, Ellen M. Howerton, Yong Huang, Howard J. Jacob, Mahim Jain, Jean M. Johnston, Angela L. Jones, David Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, C. Christopher Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Allen Lipson, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Colleen E. McCormack, Jason D. Merker, Thomas O. Metz, Matthew Might, Paolo M. Moretti, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Chloe M. Reuter, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Jacinda B. Sampson, Susan L. Samson, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Ariane G. Soldatos, Joan M. Stoler, Nicholas Stong, Jennifer A. Sullivan, David A. Sweetser, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Zaheer M. Valivullah, Eric Vilain, Tiphanie P. Vogel, Daryl M. Waggott, Colleen E. Wahl, Chris A. Walsh, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, Bobbie Jo M. Webb-Robertson, Monte Westerfield, Matthew T. Wheeler, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Allison Zheng, Anastasia L. Wise, Vandana Shashi

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish (US)
Article number652
JournalBMC Health Services Research
Volume18
Issue number1
DOIs
StatePublished - Aug 22 2018

Fingerprint

Referral and Consultation
Demography
Primary Care Physicians
Signs and Symptoms
Fatigue
Primary Health Care
Pain

Keywords

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

ASJC Scopus subject areas

  • Health Policy

Cite this

Walley, N. M., Pena, L. D. M., Hooper, S. R., Cope, H., Jiang, Y. H., McConkie-Rosell, A., ... Shashi, V. (2018). Characteristics of undiagnosed diseases network applicants: Implications for referring providers. BMC Health Services Research, 18(1), [652]. https://doi.org/10.1186/s12913-018-3458-2

Characteristics of undiagnosed diseases network applicants : Implications for referring providers. / Walley, Nicole M.; Pena, Loren D.M.; Hooper, Stephen R.; Cope, Heidi; Jiang, Yong Hui; McConkie-Rosell, Allyn; Sanders, Camilla; Schoch, Kelly; Spillmann, Rebecca C.; Strong, Kimberly; McCray, Alexa T.; Mazur, Paul; Esteves, Cecilia; Leblanc, Kimberly; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Craigen, William J.; D'Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dillon, Ani; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Eskin, Ascia; Estwick, Tyra; Fernandez, Liliana; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Johnston, Jean M.; Jones, Angela L.; Koeller, David; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Christopher Lau, C.; Lazar, Jozef; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Lipson, Allen; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCormack, Colleen E.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Scott Newberry, J.; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Carl Pallais, J.; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Soldatos, Ariane G.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sweetser, David A.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walsh, Chris A.; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison; Wise, Anastasia L.; Shashi, Vandana.

In: BMC Health Services Research, Vol. 18, No. 1, 652, 22.08.2018.

Research output: Contribution to journalArticle

Walley, NM, Pena, LDM, Hooper, SR, Cope, H, Jiang, YH, McConkie-Rosell, A, Sanders, C, Schoch, K, Spillmann, RC, Strong, K, McCray, AT, Mazur, P, Esteves, C, Leblanc, K, 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, 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, Estwick, T, Fernandez, L, Fisher, PG, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldstein, DB, Gould, SE, Gourdine, JPF, 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, Johnston, JM, Jones, AL, Koeller, D, 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, McCormack, CE, 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, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Robertson, AK, Rodan, LH, Rosenfeld, JA, Sampson, JB, Samson, SL, Schroeder, MC, Scott, DA, Sharma, P, Silverman, EK, Sinsheimer, JS, Smith, KS, Soldatos, AG, 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, Walsh, CA, Wangler, MF, Ward, PA, Waters, KM, Webb-Robertson, BJM, Westerfield, M, Wheeler, MT, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, Y, Yu, G, Zastrow, DB, Zhao, C, Zheng, A, Wise, AL & Shashi, V 2018, 'Characteristics of undiagnosed diseases network applicants: Implications for referring providers', BMC Health Services Research, vol. 18, no. 1, 652. https://doi.org/10.1186/s12913-018-3458-2
Walley, Nicole M. ; Pena, Loren D.M. ; Hooper, Stephen R. ; Cope, Heidi ; Jiang, Yong Hui ; McConkie-Rosell, Allyn ; Sanders, Camilla ; Schoch, Kelly ; Spillmann, Rebecca C. ; Strong, Kimberly ; McCray, Alexa T. ; Mazur, Paul ; Esteves, Cecilia ; Leblanc, Kimberly ; Adams, David R. ; Alejandro, Mercedes E. ; Allard, Patrick ; Ashley, Euan A. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Batzli, Gabriel F. ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bican, Anna ; Bick, David P. ; Birch, Camille L. ; Bonner, Devon ; Boone, Braden E. ; Bostwick, Bret L. ; Briere, Lauren C. ; Brown, Donna M. ; Brush, Matthew ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Chen, Shan ; Clark, Gary D. ; Coakley, Terra R. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Craigen, William J. ; D'Souza, Precilla ; Davids, Mariska ; Davidson, Jean M. ; Dayal, Jyoti G. ; Dell'Angelica, Esteban C. ; Dhar, Shweta U. ; Dillon, Ani ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Douine, Emilie D. ; Draper, David D. ; Dries, Annika M. ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Enns, Gregory M. ; Eskin, Ascia ; Estwick, Tyra ; Fernandez, Liliana ; Fisher, Paul G. ; Fogel, Brent L. ; Friedman, Noah D. ; Gahl, William A. ; Glanton, Emily ; Godfrey, Rena A. ; Goldstein, David B. ; Gould, Sarah E. ; Gourdine, Jean Philippe F. ; Groden, Catherine A. ; Gropman, Andrea L. ; Haendel, Melissa ; Hamid, Rizwan ; Hanchard, Neil A. ; Handley, Lori H. ; Herzog, Matthew R. ; Holm, Ingrid A. ; Hom, Jason ; Howerton, Ellen M. ; Huang, Yong ; Jacob, Howard J. ; Jain, Mahim ; Johnston, Jean M. ; Jones, Angela L. ; Koeller, David ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krasnewich, Donna M. ; Krieg, Elizabeth L. ; Krier, Joel B. ; Kyle, Jennifer E. ; Lalani, Seema R. ; Christopher Lau, C. ; Lazar, Jozef ; Lee, Brendan H. ; Lee, Hane ; Levy, Shawn E. ; Lewis, Richard A. ; Lincoln, Sharyn A. ; Lipson, Allen ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; Macnamara, Ellen F. ; MacRae, Calum A. ; Maduro, Valerie V. ; Majcherska, Marta M. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Marom, Ronit ; Martínez-Agosto, Julian A. ; Marwaha, Shruti ; May, Thomas ; McCormack, Colleen E. ; Merker, Jason D. ; Metz, Thomas O. ; Might, Matthew ; Moretti, Paolo M. ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Scott Newberry, J. ; Newman, John H. ; Nicholas, Sarah K. ; Novacic, Donna ; Orange, Jordan S. ; Carl Pallais, J. ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A. ; Posey, Jennifer E. ; Postlethwait, John H. ; Potocki, Lorraine ; Pusey, Barbara N. ; Reuter, Chloe M. ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenfeld, Jill A. ; Sampson, Jacinda B. ; Samson, Susan L. ; Schroeder, Molly C. ; Scott, Daryl A. ; Sharma, Prashant ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Smith, Kevin S. ; Soldatos, Ariane G. ; Stoler, Joan M. ; Stong, Nicholas ; Sullivan, Jennifer A. ; Sweetser, David A. ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Urv, Tiina K. ; Valivullah, Zaheer M. ; Vilain, Eric ; Vogel, Tiphanie P. ; Waggott, Daryl M. ; Wahl, Colleen E. ; Walsh, Chris A. ; Wangler, Michael F. ; Ward, Patricia A. ; Waters, Katrina M. ; Webb-Robertson, Bobbie Jo M. ; Westerfield, Monte ; Wheeler, Matthew T. ; Wolfe, Lynne A. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Yang, Yaping ; Yu, Guoyun ; Zastrow, Diane B. ; Zhao, Chunli ; Zheng, Allison ; Wise, Anastasia L. ; Shashi, Vandana. / Characteristics of undiagnosed diseases network applicants : Implications for referring providers. In: BMC Health Services Research. 2018 ; Vol. 18, No. 1.
@article{174285f2f2c14ab6ad71ecf6206bf0ed,
title = "Characteristics of undiagnosed diseases network applicants: Implications for referring providers",
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",
author = "Walley, {Nicole M.} and Pena, {Loren D.M.} and Hooper, {Stephen R.} and Heidi Cope and Jiang, {Yong Hui} and Allyn McConkie-Rosell and Camilla Sanders and Kelly Schoch and Spillmann, {Rebecca C.} and Kimberly Strong and McCray, {Alexa T.} and Paul Mazur and Cecilia Esteves and Kimberly Leblanc and Adams, {David R.} and Alejandro, {Mercedes E.} and Patrick Allard and Ashley, {Euan A.} and Azamian, {Mahshid S.} and Bacino, {Carlos A.} and Ashok Balasubramanyam and Hayk Barseghyan and Batzli, {Gabriel F.} and Beggs, {Alan H.} and Bellen, {Hugo J.} and Bernstein, {Jonathan A.} and Anna Bican and Bick, {David P.} and Birch, {Camille L.} and Devon Bonner and Boone, {Braden E.} and Bostwick, {Bret L.} and Briere, {Lauren C.} and Brown, {Donna M.} and Matthew Brush and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Shan Chen and Clark, {Gary D.} and Coakley, {Terra R.} and Cogan, {Joy D.} and Cooper, {Cynthia M.} and Craigen, {William J.} and Precilla D'Souza and Mariska Davids and Davidson, {Jean M.} and Dayal, {Jyoti G.} and Dell'Angelica, {Esteban C.} and Dhar, {Shweta U.} and Ani Dillon and Dipple, {Katrina M.} and Donnell-Fink, {Laurel A.} and Naghmeh Dorrani and Dorset, {Daniel C.} and Douine, {Emilie D.} and Draper, {David D.} and Dries, {Annika M.} and Eckstein, {David J.} and Emrick, {Lisa T.} and Eng, {Christine M.} and Enns, {Gregory M.} and Ascia Eskin and Tyra Estwick and Liliana Fernandez and Fisher, {Paul G.} and Fogel, {Brent L.} and Friedman, {Noah D.} and Gahl, {William A.} and Emily Glanton and Godfrey, {Rena A.} and Goldstein, {David B.} and Gould, {Sarah E.} and Gourdine, {Jean Philippe F.} and Groden, {Catherine A.} and Gropman, {Andrea L.} and Melissa Haendel and Rizwan Hamid and Hanchard, {Neil A.} and Handley, {Lori H.} and Herzog, {Matthew R.} and Holm, {Ingrid A.} and Jason Hom and Howerton, {Ellen M.} and Yong Huang and Jacob, {Howard J.} and Mahim Jain and Johnston, {Jean M.} and Jones, {Angela L.} and David Koeller and Kohane, {Isaac S.} and Kohler, {Jennefer N.} and Krasnewich, {Donna M.} and Krieg, {Elizabeth L.} and Krier, {Joel B.} and Kyle, {Jennifer E.} and Lalani, {Seema R.} and {Christopher Lau}, C. and Jozef Lazar and Lee, {Brendan H.} and Hane Lee and Levy, {Shawn E.} and Lewis, {Richard A.} and Lincoln, {Sharyn A.} and Allen Lipson and Loo, {Sandra K.} and Joseph Loscalzo and Maas, {Richard L.} and Macnamara, {Ellen F.} and MacRae, {Calum A.} and Maduro, {Valerie V.} and Majcherska, {Marta M.} and Malicdan, {May Christine V.} and Mamounas, {Laura A.} and Manolio, {Teri A.} and Markello, {Thomas C.} and Ronit Marom and Mart{\'i}nez-Agosto, {Julian A.} and Shruti Marwaha and Thomas May and McCormack, {Colleen E.} and Merker, {Jason D.} and Metz, {Thomas O.} and Matthew Might and Moretti, {Paolo M.} and Mulvihill, {John J.} and Murphy, {Jennifer L.} and Muzny, {Donna M.} and Nehrebecky, {Michele E.} and Nelson, {Stan F.} and {Scott Newberry}, J. and Newman, {John H.} and Nicholas, {Sarah K.} and Donna Novacic and Orange, {Jordan S.} and {Carl Pallais}, J. and Palmer, {Christina G.S.} and Papp, {Jeanette C.} and Parker, {Neil H.} and Phillips, {John A.} and Posey, {Jennifer E.} and Postlethwait, {John H.} and Lorraine Potocki and Pusey, {Barbara N.} and Reuter, {Chloe M.} and Robertson, {Amy K.} and Rodan, {Lance H.} and Rosenfeld, {Jill A.} and Sampson, {Jacinda B.} and Samson, {Susan L.} and Schroeder, {Molly C.} and Scott, {Daryl A.} and Prashant Sharma and Silverman, {Edwin K.} and Sinsheimer, {Janet S.} and Smith, {Kevin S.} and Soldatos, {Ariane G.} and Stoler, {Joan M.} and Nicholas Stong and Sullivan, {Jennifer A.} and Sweetser, {David A.} and Tifft, {Cynthia J.} and Camilo Toro and Tran, {Alyssa A.} and Urv, {Tiina K.} and Valivullah, {Zaheer M.} and Eric Vilain and Vogel, {Tiphanie P.} and Waggott, {Daryl M.} and Wahl, {Colleen E.} and Walsh, {Chris A.} and Wangler, {Michael F.} and Ward, {Patricia A.} and Waters, {Katrina M.} and Webb-Robertson, {Bobbie Jo M.} and Monte Westerfield and Wheeler, {Matthew T.} and Wolfe, {Lynne A.} and Worthey, {Elizabeth A.} and Shinya Yamamoto and Yaping Yang and Guoyun Yu and Zastrow, {Diane B.} and Chunli Zhao and Allison Zheng and Wise, {Anastasia L.} and Vandana Shashi",
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TY - JOUR

T1 - Characteristics of undiagnosed diseases network applicants

T2 - Implications for referring providers

AU - Walley, Nicole M.

AU - Pena, Loren D.M.

AU - Hooper, Stephen R.

AU - Cope, Heidi

AU - Jiang, Yong Hui

AU - McConkie-Rosell, Allyn

AU - Sanders, Camilla

AU - Schoch, Kelly

AU - Spillmann, Rebecca C.

AU - Strong, Kimberly

AU - McCray, Alexa T.

AU - Mazur, Paul

AU - Esteves, Cecilia

AU - Leblanc, Kimberly

AU - Adams, David R.

AU - Alejandro, Mercedes E.

AU - Allard, Patrick

AU - Ashley, Euan A.

AU - Azamian, Mahshid S.

AU - Bacino, Carlos A.

AU - Balasubramanyam, Ashok

AU - Barseghyan, Hayk

AU - Batzli, Gabriel F.

AU - Beggs, Alan H.

AU - Bellen, Hugo J.

AU - Bernstein, Jonathan A.

AU - Bican, Anna

AU - Bick, David P.

AU - Birch, Camille L.

AU - Bonner, Devon

AU - Boone, Braden E.

AU - Bostwick, Bret L.

AU - Briere, Lauren C.

AU - Brown, Donna M.

AU - Brush, Matthew

AU - Burke, Elizabeth A.

AU - Burrage, Lindsay C.

AU - Chen, Shan

AU - Clark, Gary D.

AU - Coakley, Terra R.

AU - Cogan, Joy D.

AU - Cooper, Cynthia M.

AU - Craigen, William J.

AU - D'Souza, Precilla

AU - Davids, Mariska

AU - Davidson, Jean M.

AU - Dayal, Jyoti G.

AU - Dell'Angelica, Esteban C.

AU - Dhar, Shweta U.

AU - Dillon, Ani

AU - Dipple, Katrina M.

AU - Donnell-Fink, Laurel A.

AU - Dorrani, Naghmeh

AU - Dorset, Daniel C.

AU - Douine, Emilie D.

AU - Draper, David D.

AU - Dries, Annika M.

AU - Eckstein, David J.

AU - Emrick, Lisa T.

AU - Eng, Christine M.

AU - Enns, Gregory M.

AU - Eskin, Ascia

AU - Estwick, Tyra

AU - Fernandez, Liliana

AU - Fisher, Paul G.

AU - Fogel, Brent L.

AU - Friedman, Noah D.

AU - Gahl, William A.

AU - Glanton, Emily

AU - Godfrey, Rena A.

AU - Goldstein, David B.

AU - Gould, Sarah E.

AU - Gourdine, Jean Philippe F.

AU - Groden, Catherine A.

AU - Gropman, Andrea L.

AU - Haendel, Melissa

AU - Hamid, Rizwan

AU - Hanchard, Neil A.

AU - Handley, Lori H.

AU - Herzog, Matthew R.

AU - Holm, Ingrid A.

AU - Hom, Jason

AU - Howerton, Ellen M.

AU - Huang, Yong

AU - Jacob, Howard J.

AU - Jain, Mahim

AU - Johnston, Jean M.

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AU - Kohane, Isaac S.

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AU - Krasnewich, Donna M.

AU - Krieg, Elizabeth L.

AU - Krier, Joel B.

AU - Kyle, Jennifer E.

AU - Lalani, Seema R.

AU - Christopher Lau, C.

AU - Lazar, Jozef

AU - Lee, Brendan H.

AU - Lee, Hane

AU - Levy, Shawn E.

AU - Lewis, Richard A.

AU - Lincoln, Sharyn A.

AU - Lipson, Allen

AU - Loo, Sandra K.

AU - Loscalzo, Joseph

AU - Maas, Richard L.

AU - Macnamara, Ellen F.

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AU - Majcherska, Marta M.

AU - Malicdan, May Christine V.

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AU - Manolio, Teri A.

AU - Markello, Thomas C.

AU - Marom, Ronit

AU - Martínez-Agosto, Julian A.

AU - Marwaha, Shruti

AU - May, Thomas

AU - McCormack, Colleen E.

AU - Merker, Jason D.

AU - Metz, Thomas O.

AU - Might, Matthew

AU - Moretti, Paolo M.

AU - Mulvihill, John J.

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AU - Newman, John H.

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AU - Palmer, Christina G.S.

AU - Papp, Jeanette C.

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AU - Posey, Jennifer E.

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AU - Pusey, Barbara N.

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AU - Rodan, Lance H.

AU - Rosenfeld, Jill A.

AU - Sampson, Jacinda B.

AU - Samson, Susan L.

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AU - Scott, Daryl A.

AU - Sharma, Prashant

AU - Silverman, Edwin K.

AU - Sinsheimer, Janet S.

AU - Smith, Kevin S.

AU - Soldatos, Ariane G.

AU - Stoler, Joan M.

AU - Stong, Nicholas

AU - Sullivan, Jennifer A.

AU - Sweetser, David A.

AU - Tifft, Cynthia J.

AU - Toro, Camilo

AU - Tran, Alyssa A.

AU - Urv, Tiina K.

AU - Valivullah, Zaheer M.

AU - Vilain, Eric

AU - Vogel, Tiphanie P.

AU - Waggott, Daryl M.

AU - Wahl, Colleen E.

AU - Walsh, Chris A.

AU - Wangler, Michael F.

AU - Ward, Patricia A.

AU - Waters, Katrina M.

AU - Webb-Robertson, Bobbie Jo M.

AU - Westerfield, Monte

AU - Wheeler, Matthew T.

AU - Wolfe, Lynne A.

AU - Worthey, Elizabeth A.

AU - Yamamoto, Shinya

AU - Yang, Yaping

AU - Yu, Guoyun

AU - Zastrow, Diane B.

AU - Zhao, Chunli

AU - Zheng, Allison

AU - Wise, Anastasia L.

AU - Shashi, Vandana

PY - 2018/8/22

Y1 - 2018/8/22

N2 - 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.

AB - 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.

KW - Genomics

KW - Health policy

KW - Medically unexplained physical symptoms

KW - Medically unexplained symptoms

KW - Undiagnosed diseases

UR - http://www.scopus.com/inward/record.url?scp=85051971516&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85051971516&partnerID=8YFLogxK

U2 - 10.1186/s12913-018-3458-2

DO - 10.1186/s12913-018-3458-2

M3 - Article

VL - 18

JO - BMC Health Services Research

JF - BMC Health Services Research

SN - 1472-6963

IS - 1

M1 - 652

ER -