@article{6a650700e59e4d74af49dd5db4fb3ff0,
title = "The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones",
abstract = "Purpose: Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)? Methods: The UDN is a national research resource to solve medical mysteries through team science. Applicants provide informed consent to access to their medical records. After review, expert panels assess if applicants meet inclusion and exclusion criteria to select participants. When not accepting applicants, UDN experts may offer suggestions for diagnostic efforts. Using minimal information from initial applications, we compare features in applicants who are not accepted with those who are accepted and either solved or still not solved by the UDN. The diagnostic suggestions offered to nonaccepted applicants and their clinicians were tallied. Results: Nonaccepted applicants were more often female, older at first symptoms and application, and longer in review compared with accepted applicants. The accepted and successfully diagnosed applicants were younger, shorter in review time, more often non-White, of Hispanic ethnicity, and presenting with nervous system features. Half of nonaccepted applicants were given suggestions for further local diagnostic evaluation. A few seemed to have 2 major diagnoses or a provocative environmental exposure history. Conclusion: Comprehensive UDN record review generates possibly helpful advice.",
keywords = "Clinical diagnosis, Environmental exposures, Record review, Undiagnosed and rare diseases",
author = "{Undiagnosed Diseases Network} and Mulvihill, {John J.} and Laura Findley and Weihong Ni and Sinsheimer, {Janet S.} and Cole, {F. Session} and Cecilia Esteves and Bernstein, {Jonathan A.} and Newman, {John H.} and Wheeler, {Matthew T.} and Mokry, {Jill R.} and Acosta, {Maria T.} and Adams, {David R.} and Ben Afzali and Ali Al-Beshri and Aimee Allworth and Alvarez, {Raquel L.} and Justin Alvey and Ashley Andrews and Ashley, {Euan A.} and Bacino, {Carlos A.} and Guney Bademci and Ashok Balasubramanyam and Dustin Baldridge and Jim Bale and Michael Bamshad and Deborah Barbouth and Pinar Bayrak-Toydemir and Anita Beck and Beggs, {Alan H.} and Edward Behrens and Gill Bejerano and Bellen, {Hugo J.} and Jimmy Bennett and Berry, {Gerard T.} and Anna Bican and Stephanie Bivona and Elizabeth Blue and John Bohnsack and Devon Bonner and Nicholas Borja and Lorenzo Botto and Briere, {Lauren C.} and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Butte, {Manish J.} and Peter Byers and Byrd, {William E.} and Kaitlin Callaway and John Carey and George Carvalho and Thomas Cassini and Sirisak Chanprasert and Chao, {Hsiao Tuan} and Ivan Chinn and Clark, {Gary D.} and Coakley, {Terra R.} and Cobban, {Laurel A.} and Cogan, {Joy D.} and Matthew Coggins and Cole, {F. Sessions} and Brian Corner and Corona, {Rosario I.} and Craigen, {William J.} and Crouse, {Andrew B.} and Vishnu Cuddapah and Michael Cunningham and Precilla D'Souza and Hongzheng Dai and Surendra Dasari and Joie Davis and Margaret Delgado and Dell'Angelica, {Esteban C.} and Katrina Dipple and Daniel Doherty and Naghmeh Dorrani and Jessica Douglas and Douine, {Emilie D.} and Dawn Earl and Emrick, {Lisa T.} and Eng, {Christine M.} and Kimberly Ezell and Fieg, {Elizabeth L.} and Fisher, {Paul G.} and Fogel, {Brent L.} and Jiayu Fu and Gahl, {William A.} and Rebecca Ganetzky and Emily Glanton and Ian Glass and Goddard, {Page C.} and Gonzalez, {Joanna M.} and Andrea Gropman and Halley, {Meghan C.} and Rizwan Hamid and Neal Hanchard and Kelly Hassey and Nichole Hayes and Frances High and Anne Hing and Hisama, {Fuki M.} and Holm, {Ingrid A.} and Jason Hom and Martha Horike-Pyne and Alden Huang and Yan Huang and Anna Hurst and Wendy Introne and Jarvik, {Gail P.} and Jeffrey Jarvik and Suman Jayadev and Marie, {Orpa Jean} and Vaidehi Jobanputra and Emerald Kaitryn and Oguz Kanca and Yigit Karasozen and Shamika Ketkar and Dana Kiley and Gonench Kilich and Kobren, {Shilpa N.} and Kohane, {Isaac S.} and Kohler, {Jennefer N.} and Bruce Korf and Susan Korrick and Deborah Krakow and Elijah Kravets and Lalani, {Seema R.} and Christina Lam and Lanpher, {Brendan C.} and Lanza, {Ian R.} and Kumarie Latchman and Kimberly LeBlanc and Lee, {Brendan H.} and Lewis, {Richard A.} and Pengfei Liu and Nicola Longo and Joseph Loscalzo and Maas, {Richard L.} and Macnamara, {Ellen F.} and MacRae, {Calum A.} and Maduro, {Valerie V.} and Maghiro, {Audrey Stephannie} and Rachel Mahoney and Malicdan, {May Christine V.} and Rong Mao and Ronit Marom and Gabor Marth and Martin, {Beth A.} and Martin, {Martin G.} and Mart{\'i}nez-Agosto, {Julian A.} and Shruti Marwaha and Allyn McConkie-Rosell and McCray, {Alexa T.} and Matthew Might and Mohamad Mikati and Danny Miller and Ghayda Mirzaa and Eva Morava and Paolo Moretti and Marie Morimoto and Mariko Nakano-Okuno and Nelson, {Stanley F.} and Serena Neumann and Donna Novacic and Devin Oglesbee and Orengo, {James P.} and Laura Pace and Stephen Pak and Pallais, {J. Carl} and Parker, {Neil H.} and Peart, {L{\'e}Shon S.} and Leoyklang Petcharet and Phillips, {John A.} and Posey, {Jennifer E.} and Lorraine Potocki and {Pusey Swerdzewski}, {Barbara N.} and Aaron Quinlan and Ramakrishnan Rajagopalan and Rao, {Deepak A.} and Anna Raper and Wendy Raskind and Adriana Rebelo and Reuter, {Chloe M.} and Lynette Rives and Robertson, {Amy K.} and Rodan, {Lance H.} and Martin Rodriguez and Rosenfeld, {Jill A.} and Elizabeth Rosenthal and Francis Rossignol and Maura Ruzhnikov and Marla Sabaii and Sampson, {Jacinda B.} and Timothy Schedl and Kelly Schoch and Scott, {Daryl A.} and Elaine Seto and Vandana Shashi and Jimann Shin and Lilianna Solnica-Krezel and Jennifer Wambach",
note = "Publisher Copyright: {\textcopyright} 2024",
year = "2024",
month = oct,
doi = "10.1016/j.gim.2024.101203",
language = "English",
volume = "26",
journal = "Genetics in Medicine",
issn = "1098-3600",
number = "10",
}