Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
diversity
health equity
inclusion
rare disease research
undiagnosed diseases network
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
14 Oct 2024
14 Oct 2024
Historique:
revised:
14
09
2024
received:
01
06
2024
accepted:
28
09
2024
medline:
14
10
2024
pubmed:
14
10
2024
entrez:
14
10
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 39400494
doi: 10.1002/ajmg.a.63904
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63904Subventions
Organisme : NINDS NIH HHS
Pays : United States
Investigateurs
Maria T Acosta
(MT)
David R Adams
(DR)
Ben Afzali
(B)
Ali Al-Beshri
(A)
Aimee Allworth
(A)
Raquel L Alvarez
(RL)
Justin Alvey
(J)
Ashley Andrews
(A)
Euan A Ashley
(EA)
Carlos A Bacino
(CA)
Guney Bademci
(G)
Ashok Balasubramanyam
(A)
Dustin Baldridge
(D)
Jim Bale
(J)
Michael Bamshad
(M)
Deborah Barbouth
(D)
Pinar Bayrak-Toydemir
(P)
Anita Beck
(A)
Alan H Beggs
(AH)
Edward Behrens
(E)
Gill Bejerano
(G)
Hugo J Bellen
(HJ)
Jimmy Bennett
(J)
Jonathan A Bernstein
(JA)
Gerard T Berry
(GT)
Anna Bican
(A)
Stephanie Bivona
(S)
Elizabeth Blue
(E)
John Bohnsack
(J)
Devon Bonner
(D)
Nicholas Borja
(N)
Lorenzo Botto
(L)
Lauren C Briere
(LC)
Elizabeth A Burke
(EA)
Lindsay C Burrage
(LC)
Manish J Butte
(MJ)
Peter Byers
(P)
William E Byrd
(WE)
Kaitlin Callaway
(K)
John Carey
(J)
George Carvalho
(G)
Thomas Cassini
(T)
Sirisak Chanprasert
(S)
Hsiao-Tuan Chao
(HT)
Ivan Chinn
(I)
Gary D Clark
(GD)
Terra R Coakley
(TR)
Laurel A Cobban
(LA)
Joy D Cogan
(JD)
Matthew Coggins
(M)
F Sessions Cole
(FS)
Brian Corner
(B)
Rosario I Corona
(RI)
William J Craigen
(WJ)
Andrew B Crouse
(AB)
Vishnu Cuddapah
(V)
Michael Cunningham
(M)
Precilla D'Souza
(P)
Hongzheng Dai
(H)
Kahlen Darr
(K)
Surendra Dasari
(S)
Joie Davis
(J)
Margaret Delgado
(M)
Esteban C Dell'Angelica
(EC)
Katrina Dipple
(K)
Daniel Doherty
(D)
Naghmeh Dorrani
(N)
Jessica Douglas
(J)
Emilie D Douine
(ED)
Dawn Earl
(D)
Lisa T Emrick
(LT)
Christine M Eng
(CM)
Kimberly Ezell
(K)
Elizabeth L Fieg
(EL)
Paul G Fisher
(PG)
Brent L Fogel
(BL)
Jiayu Fu
(J)
William A Gahl
(WA)
Rebecca Ganetzky
(R)
Emily Glanton
(E)
Ian Glass
(I)
Page C Goddard
(PC)
Joanna M Gonzalez
(JM)
Andrea Gropman
(A)
Meghan C Halley
(MC)
Rizwan Hamid
(R)
Neal Hanchard
(N)
Kelly Hassey
(K)
Nichole Hayes
(N)
Frances High
(F)
Anne Hing
(A)
Fuki M Hisama
(FM)
Ingrid A Holm
(IA)
Jason Hom
(J)
Martha Horike-Pyne
(M)
Alden Huang
(A)
Yan Huang
(Y)
Anna Hurst
(A)
Wendy Introne
(W)
Gail P Jarvik
(GP)
Jeffrey Jarvik
(J)
Suman Jayadev
(S)
Orpa Jean-Marie
(O)
Vaidehi Jobanputra
(V)
Emerald Kaitryn
(E)
Oguz Kanca
(O)
Yigit Karasozen
(Y)
Shamika Ketkar
(S)
Dana Kiley
(D)
Gonench Kilich
(G)
Eric Klee
(E)
Shilpa N Kobren
(SN)
Isaac S Kohane
(IS)
Jennefer N Kohler
(JN)
Bruce Korf
(B)
Susan Korrick
(S)
Deborah Krakow
(D)
Elijah Kravets
(E)
Seema R Lalani
(SR)
Christina Lam
(C)
Brendan C Lanpher
(BC)
Ian R Lanza
(IR)
Kumarie Latchman
(K)
Kimberly LeBlanc
(K)
Brendan H Lee
(BH)
Richard A Lewis
(RA)
Pengfei Liu
(P)
Nicola Longo
(N)
Joseph Loscalzo
(J)
Richard L Maas
(RL)
Ellen F Macnamara
(EF)
Calum A MacRae
(CA)
Valerie V Maduro
(VV)
AudreyStephannie Maghiro
(A)
Rachel Mahoney
(R)
May Christine V Malicdan
(MCV)
Rong Mao
(R)
Ronit Marom
(R)
Gabor Marth
(G)
Beth A Martin
(BA)
Martin G Martin
(MG)
Julian A Martínez-Agosto
(JA)
Shruti Marwaha
(S)
Allyn McConkie-Rosell
(A)
Alexa T McCray
(AT)
Matthew Might
(M)
Mohamad Mikati
(M)
Danny Miller
(D)
Ghayda Mirzaa
(G)
Breanna Mitchell
(B)
Paolo Moretti
(P)
Marie Morimoto
(M)
John J Mulvihill
(JJ)
Lindsay Mulvihill
(L)
Mariko Nakano-Okuno
(M)
Stanley F Nelson
(SF)
Serena Neumann
(S)
Donna Novacic
(D)
Devin Oglesbee
(D)
James P Orengo
(JP)
Laura Pace
(L)
Stephen Pak
(S)
J Carl Pallais
(JC)
Neil H Parker
(NH)
LéShon Peart
(L)
Leoyklang Petcharet
(L)
John A Phillips
(JA)
Filippo Pinto E Vairo
(F)
Jennifer E Posey
(JE)
Lorraine Potocki
(L)
Barbara N Pusey Swerdzewski
(BN)
Aaron Quinlan
(A)
Daniel J Rader
(DJ)
Ramakrishnan Rajagopalan
(R)
Deepak A Rao
(DA)
Anna Raper
(A)
Wendy Raskind
(W)
Adriana Rebelo
(A)
Chloe M Reuter
(CM)
Lynette Rives
(L)
Amy K Robertson
(AK)
Lance H Rodan
(LH)
Martin Rodriguez
(M)
Jill A Rosenfeld
(JA)
Elizabeth Rosenthal
(E)
Francis Rossignol
(F)
Maura Ruzhnikov
(M)
Marla Sabaii
(M)
Jacinda B Sampson
(JB)
Timothy Schedl
(T)
Lisa Schimmenti
(L)
Kelly Schoch
(K)
Daryl A Scott
(DA)
Elaine Seto
(E)
Vandana Shashi
(V)
Emily Shelkowitz
(E)
Sam Sheppeard
(S)
Jimann Shin
(J)
Edwin K Silverman
(EK)
Giorgio Sirugo
(G)
Kathy Sisco
(K)
Tammi Skelton
(T)
Cara Skraban
(C)
Carson A Smith
(CA)
Kevin S Smith
(KS)
Lilianna Solnica-Krezel
(L)
Ben Solomon
(B)
Rebecca C Spillmann
(RC)
Andrew Stergachis
(A)
Joan M Stoler
(JM)
Kathleen Sullivan
(K)
Shirley Sutton
(S)
David A Sweetser
(DA)
Virginia Sybert
(V)
Holly K Tabor
(HK)
Queenie Tan
(Q)
Amelia L M Tan
(ALM)
Arjun Tarakad
(A)
Herman Taylor
(H)
Mustafa Tekin
(M)
Willa Thorson
(W)
Cynthia J Tifft
(CJ)
Camilo Toro
(C)
Alyssa A Tran
(AA)
Rachel A Ungar
(RA)
Adeline Vanderver
(A)
Matt Velinder
(M)
Dave Viskochil
(D)
Tiphanie P Vogel
(TP)
Colleen E Wahl
(CE)
Melissa Walker
(M)
Nicole M Walley
(NM)
Jennifer Wambach
(J)
Michael F Wangler
(MF)
Patricia A Ward
(PA)
Daniel Wegner
(D)
Monika Weisz Hubshman
(MW)
Mark Wener
(M)
Tara Wenger
(T)
Monte Westerfield
(M)
Matthew T Wheeler
(MT)
Jordan Whitlock
(J)
Lynne A Wolfe
(LA)
Heidi Wood
(H)
Kim Worley
(K)
Shinya Yamamoto
(S)
Zhe Zhang
(Z)
Stephan Zuchner
(S)
Informations de copyright
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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