@article{b6787cf02638488bb4e914cc38bda4ee,
title = "Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network",
abstract = "Rare diseases affect 6%–8% of the population and present diagnostic challenges, particularly for historically marginalized ethnic and racial groups. The Undiagnosed Diseases Network (UDN) aims to enhance diagnosis rates and research participation among such minoritized groups. A retrospective review was conducted from 2015 to 2023, analyzing 2235 UDN participants to evaluate its progress toward this objective. Data on demographics, disease phenotypes, diagnostic outcomes, and socioeconomic factors were collected and statistical analyses assessed differences among ethnic and racial groups. This demonstrated that Hispanic and Black non-Hispanic groups were underrepresented, while White non-Hispanic participants were overrepresented in the UDN compared to the US population. Individuals whose primary language was not English were also significantly underrepresented. Diagnosis rates varied, with the highest rates among Asian non-Hispanic (39.5%) and Hispanic (35.3%) groups and the lowest rate in the White non-Hispanic group (26.8%) (p < 0.001). Binomial logistic regression found, however, that only participant age and disease phenotype predicted the likelihood of receiving a diagnosis (p < 0.001). Persistent ethnic and racial disparities in UDN participation appear to be associated with major differences in application rates. Under-enrollment of historically marginalized ethnic and racial groups may be due to economic hardships and language barriers. No differences in the diagnostic yield among ethnic and racial groups were observed after controlling for other factors. This work highlights the value of comprehensive genetic evaluations for addressing healthcare disparities and suggests priorities for advancing inclusion in rare disease research.",
keywords = "diversity, health equity, inclusion, rare disease research, undiagnosed diseases network",
author = "{Undiagnosed Diseases Network} and Borja, {Nicholas A.} and Tinker, {Rory J.} and Bivona, {Stephanie A.} and Smith, {Carson A.} and Locker, {Theodore Krijnse} and Samuela Fernandes 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 Bernstein, {Jonathan A.} 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{\textquoteright}Souza and Hongzheng Dai and Kahlen Darr and Surendra Dasari and Joie Davis and Margaret Delgado and Dell{\textquoteright}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 Orpa Jean-Marie and Vaidehi Jobanputra and Emerald Kaitryn and Oguz Kanca and Yigit Karasozen and Shamika Ketkar and Dana Kiley and Gonench Kilich and Eric Klee 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 Breanna Mitchell and Paolo Moretti and Marie Morimoto and Mulvihill, {John J.} and Lindsay Mulvihill 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 L{\'e}Shon Peart and Leoyklang Petcharet and Phillips, {John A.} and {Pinto e Vairo}, Filippo and Posey, {Jennifer E.} and Lorraine Potocki and {Pusey Swerdzewski}, {Barbara N.} and Aaron Quinlan and Rader, {Daniel J.} 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 Lisa Schimmenti and Jimann Shin and Lilianna Solnica-Krezel and Jennifer Wambach",
note = "Publisher Copyright: {\textcopyright} 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.",
year = "2025",
month = feb,
doi = "10.1002/ajmg.a.63904",
language = "English",
volume = "197",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
number = "2",
}