Participation in a national diagnostic research study: assessing the patient experience
Authors: Rosenfeld Lindsay E. , LeBlanc Kimberly , Nagy Anna , Ego Braeden K. ,   The Undiagnosed Diseases Network, Acosta Maria T. , Adam Margaret , Adams David R. , Alvarez Raquel L. , Alvey Justin , Amendola Laura , Andrews Ashley , Ashley Euan A. , Bacino Carlos A. , Bademci Guney , Balasubramanyam Ashok , Baldridge Dustin , Bale Jim , Bamshad Michael , Barbouth Deborah , Bayrak-Toydemir Pinar , Beck Anita , Beggs Alan H. , Behrens Edward , Bejerano Gill , Bellen Hugo J. , Bennett Jimmy , Berg-Rood Beverly , Bernstein Jonathan A. , Berry Gerard T. , Bican Anna , Bivona Stephanie , Blue Elizabeth , Bohnsack John , Bonner Devon , Botto Lorenzo , Boyd Brenna , Briere Lauren C. , Brokamp Elly , Brown Gabrielle , Burke Elizabeth A. , Burrage Lindsay C. , Butte Manish J. , Byers Peter , Byrd William E. , Carey John , Carrasquillo Olveen , Cassini Thomas , Chang Ta Chen Peter , Chanprasert Sirisak , Chao Hsiao-Tuan , Clark Gary D. , Coakley Terra R. , Cobban Laurel A. , Cogan Joy D. , Coggins Matthew , Cole F. Sessions , Colley Heather A. , Cooper Cynthia M. , Cope Heidi , Corona Rosario , Craigen William J. , Crouse Andrew B. , Cunningham Michael , D’Souza Precilla , Dai Hongzheng , Dasari Surendra , Davis Joie , Dayal Jyoti G. , Dell’Angelica Esteban C. , Dipple Katrina , Doherty Daniel , Dorrani Naghmeh , Doss Argenia L. , Douine Emilie D. , Duncan Laura , Earl Dawn , Eckstein David J. , Emrick Lisa T. , Eng Christine M. , Falk Marni , Fieg Elizabeth L. , Fisher Paul G. , Fogel Brent L. , Forghani Irman , Gahl William A. , Glass Ian , Gochuico Bernadette , Goddard Page C. , Godfrey Rena A. , Golden-Grant Katie , Grajewski Alana , Hadley Don , Hahn Sihoun , Halley Meghan C. , Hamid Rizwan , Hassey Kelly , Hayes Nichole , High Frances , Hing Anne , Hisama Fuki M. , Holm Ingrid A. , Hom Jason , Horike-Pyne Martha , Huang Alden , Hutchison Sarah , Introne Wendy , Isasi Rosario , Izumi Kosuke , Jamal Fariha , Jarvik Gail P. , Jarvik Jeffrey , Jayadev Suman , Jean-Marie Orpa , Jobanputra Vaidehi , Karaviti Lefkothea , Kennedy Jennifer , Ketkar Shamika , Kiley Dana , Kilich Gonench , Kobren Shilpa N. , Kohane Isaac S. , Kohler Jennefer N. , Korrick Susan , Kozuira Mary , Krakow Deborah , Krasnewich Donna M. , Kravets Elijah , Lalani Seema R. , Lam Byron , Lam Christina , Lanpher Brendan C. , Lanza Ian R. , Lee Brendan H. , Levitt Roy , Lewis Richard A. , Liu Pengfei , Liu Xue Zhong , Longo Nicola , Loo Sandra K. , Loscalzo Joseph , Maas Richard L. , Macnamara Ellen F. , MacRae Calum A. , Maduro Valerie V. , Mahoney Rachel , Malicdan May Christine V. , Mamounas Laura A. , Manolio Teri A. , Mao Rong , Maravilla Kenneth , Marom Ronit , Marth Gabor , Martin Beth A. , Martin Martin G. , Martínez-Agosto Julian A. , Marwaha Shruti , McCauley Jacob , McConkie-Rosell Allyn , McGee Elisabeth , Mefford Heather , Merritt J. Lawrence , Might Matthew , Mirzaa Ghayda , Morava Eva , Moretti Paolo , Mulvihill John , Nakano-Okuno Mariko , Nelson Stanley F. , Newman John H. , Nicholas Sarah K. , Nickerson Deborah , Nieves-Rodriguez Shirley , Novacic Donna , Oglesbee Devin , Orengo James P. , Pace Laura , Pak Stephen , Pallais J. Carl , Palmer Christina G. S. , Papp Jeanette C. , Parker Neil H. , Phillips John A. , Posey Jennifer E. , Potocki Lorraine , Swerdzewski Barbara N. Pusey , Quinlan Aaron , Rao Deepak A. , Raper Anna , Raskind Wendy , Renteria Genecee , Reuter Chloe M. , Rives Lynette , Robertson Amy K. , Rodan Lance H. , Rosenfeld Jill A. , Rosenwasser Natalie , Rossignol Francis , Ruzhnikov Maura , Sacco Ralph , Sampson Jacinda B. , Saporta Mario , Schaechter Judy , Schedl Timothy , Schoch Kelly , Scott Daryl A. , Scott C. Ron , Shashi Vandana , Shin Jimann , Silverman Edwin K. , Sinsheimer Janet S. , Sisco Kathy , Smith Edward C. , Smith Kevin S. , Solem Emily , Solnica-Krezel Lilianna , Solomon Ben , Spillmann Rebecca C. , Stoler Joan M. , Sullivan Kathleen , Sullivan Jennifer A. , Sun Angela , Sutton Shirley , Sweetser David A. , Sybert Virginia , Tabor Holly K. , Tan Queenie K.-G. , Tan Amelia L. M. , Tekin Mustafa , Telischi Fred , Thorson Willa , Tifft Cynthia J. , Toro Camilo , Tran Alyssa A. , Ungar Rachel A. , Urv Tiina K. , Vanderver Adeline , Velinder Matt , Viskochil Dave , Vogel Tiphanie P. , Wahl Colleen E. , Walker Melissa , Wallace Stephanie , Walley Nicole M. , Wambach Jennifer , Wan Jijun , Wang Lee-kai , Wangler Michael F. , Ward Patricia A. , Wegner Daniel , Hubshman Monika Weisz , Wener Mark , Wenger Tara , Westerfield Monte , Wheeler Matthew T. , Whitlock Jordan , Wolfe Lynne A. , Worley Kim , Xiao Changrui , Yamamoto Shinya , Yang John , Zhang Zhe , Zuchner Stephan , McCray Alexa T. 
Published: April 2023

Introduction

The Undiagnosed Diseases Network (UDN), a clinical research study funded by the National Institutes of Health, aims to provide answers for patients with undiagnosed conditions and generate knowledge about underlying disease mechanisms. UDN evaluations involve collaboration between clinicians and researchers and go beyond what is possible in clinical settings. While medical and research outcomes of UDN evaluations have been explored, this is the first formal assessment of the patient and caregiver experience.

Methods

We invited UDN participants and caregivers to participate in focus groups via email, newsletter, and a private participant Facebook group. We developed focus group questions based on research team expertise, literature focused on patients with rare and undiagnosed conditions, and UDN participant and family member feedback. In March 2021, we conducted, recorded, and transcribed four 60-min focus groups via Zoom. Transcripts were evaluated using a thematic analysis approach.

Results

The adult undiagnosed focus group described the UDN evaluation as validating and an avenue for access to medical providers. They also noted that the experience impacted professional choices and helped them rely on others for support. The adult diagnosed focus group described the healthcare system as not set up for rare disease. In the pediatric undiagnosed focus group, caregivers discussed a continued desire for information and gratitude for the UDN evaluation. They also described an ability to rule out information and coming to terms with not having answers. The pediatric diagnosed focus group discussed how the experience helped them focus on management and improved communication. Across focus groups, adults (undiagnosed/diagnosed) noted the comprehensiveness of the evaluation. Undiagnosed focus groups (adult/pediatric) discussed a desire for ongoing communication and care with the UDN. Diagnosed focus groups (adult/pediatric) highlighted the importance of the diagnosis they received in the UDN. The majority of the focus groups noted a positive future orientation after participation.

Conclusion

Our findings are consistent with prior literature focused on the patient experience of rare and undiagnosed conditions and highlight benefits from comprehensive evaluations, regardless of whether a diagnosis is obtained. Focus group themes also suggest areas for improvement and future research related to the diagnostic odyssey.