Abstract
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.
Original language | English |
---|---|
Article number | 73 |
Journal | Orphanet Journal of Rare Diseases |
Volume | 18 |
Issue number | 1 |
DOIs | |
State | Published - Dec 2023 |
Keywords
- Clinical evaluation
- Multidisciplinary research
- Patient experience
- Patient perspective
- Qualitative methods
- Rare disease
- Undiagnosed disease
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In: Orphanet Journal of Rare Diseases, Vol. 18, No. 1, 73, 12.2023.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Participation in a national diagnostic research study
T2 - assessing the patient experience
AU - The Undiagnosed Diseases Network
AU - Rosenfeld, Lindsay E.
AU - LeBlanc, Kimberly
AU - Nagy, Anna
AU - Ego, Braeden K.
AU - Acosta, Maria T.
AU - Adam, Margaret
AU - Adams, David R.
AU - Alvarez, Raquel L.
AU - Alvey, Justin
AU - Amendola, Laura
AU - Andrews, Ashley
AU - Ashley, Euan A.
AU - Bacino, Carlos A.
AU - Bademci, Guney
AU - Balasubramanyam, Ashok
AU - Baldridge, Dustin
AU - Bale, Jim
AU - Bamshad, Michael
AU - Barbouth, Deborah
AU - Bayrak-Toydemir, Pinar
AU - Beck, Anita
AU - Beggs, Alan H.
AU - Behrens, Edward
AU - Bejerano, Gill
AU - Bellen, Hugo J.
AU - Bennett, Jimmy
AU - Berg-Rood, Beverly
AU - Bernstein, Jonathan A.
AU - Berry, Gerard T.
AU - Bican, Anna
AU - Bivona, Stephanie
AU - Blue, Elizabeth
AU - Bohnsack, John
AU - Bonner, Devon
AU - Botto, Lorenzo
AU - Boyd, Brenna
AU - Briere, Lauren C.
AU - Brokamp, Elly
AU - Brown, Gabrielle
AU - Burke, Elizabeth A.
AU - Burrage, Lindsay C.
AU - Butte, Manish J.
AU - Byers, Peter
AU - Byrd, William E.
AU - Carey, John
AU - Carrasquillo, Olveen
AU - Cassini, Thomas
AU - Chang, Ta Chen Peter
AU - Chanprasert, Sirisak
AU - Chao, Hsiao Tuan
AU - Clark, Gary D.
AU - Coakley, Terra R.
AU - Cobban, Laurel A.
AU - Cogan, Joy D.
AU - Coggins, Matthew
AU - Cole, F. Sessions
AU - Colley, Heather A.
AU - Cooper, Cynthia M.
AU - Cope, Heidi
AU - Corona, Rosario
AU - Craigen, William J.
AU - Crouse, Andrew B.
AU - Cunningham, Michael
AU - D’Souza, Precilla
AU - Dai, Hongzheng
AU - Dasari, Surendra
AU - Davis, Joie
AU - Dayal, Jyoti G.
AU - Dell’Angelica, Esteban C.
AU - Dipple, Katrina
AU - Doherty, Daniel
AU - Dorrani, Naghmeh
AU - Doss, Argenia L.
AU - Douine, Emilie D.
AU - Duncan, Laura
AU - Earl, Dawn
AU - Eckstein, David J.
AU - Emrick, Lisa T.
AU - Eng, Christine M.
AU - Falk, Marni
AU - Fieg, Elizabeth L.
AU - Fisher, Paul G.
AU - Fogel, Brent L.
AU - Forghani, Irman
AU - Gahl, William A.
AU - Glass, Ian
AU - Gochuico, Bernadette
AU - Goddard, Page C.
AU - Godfrey, Rena A.
AU - Golden-Grant, Katie
AU - Grajewski, Alana
AU - Hadley, Don
AU - Hahn, Sihoun
AU - Halley, Meghan C.
AU - Hamid, Rizwan
AU - Hassey, Kelly
AU - Hayes, Nichole
AU - High, Frances
AU - Hing, Anne
AU - Hisama, Fuki M.
AU - Holm, Ingrid A.
AU - Hom, Jason
AU - Horike-Pyne, Martha
AU - Huang, Alden
AU - Hutchison, Sarah
AU - Introne, Wendy
AU - Isasi, Rosario
AU - Izumi, Kosuke
AU - Jamal, Fariha
AU - Jarvik, Gail P.
AU - Jarvik, Jeffrey
AU - Jayadev, Suman
AU - Jean-Marie, Orpa
AU - Jobanputra, Vaidehi
AU - Karaviti, Lefkothea
AU - Kennedy, Jennifer
AU - Ketkar, Shamika
AU - Kiley, Dana
AU - Kilich, Gonench
AU - Kobren, Shilpa N.
AU - Kohane, Isaac S.
AU - Kohler, Jennefer N.
AU - Korrick, Susan
AU - Kozuira, Mary
AU - Krakow, Deborah
AU - Krasnewich, Donna M.
AU - Kravets, Elijah
AU - Lalani, Seema R.
AU - Lam, Byron
AU - Lam, Christina
AU - Lanpher, Brendan C.
AU - Lanza, Ian R.
AU - Lee, Brendan H.
AU - Levitt, Roy
AU - Lewis, Richard A.
AU - Liu, Pengfei
AU - Liu, Xue Zhong
AU - Longo, Nicola
AU - Loo, Sandra K.
AU - Loscalzo, Joseph
AU - Maas, Richard L.
AU - Macnamara, Ellen F.
AU - MacRae, Calum A.
AU - Maduro, Valerie V.
AU - Mahoney, Rachel
AU - Malicdan, May Christine V.
AU - Mamounas, Laura A.
AU - Manolio, Teri A.
AU - Mao, Rong
AU - Maravilla, Kenneth
AU - Marom, Ronit
AU - Marth, Gabor
AU - Martin, Beth A.
AU - Martin, Martin G.
AU - Martínez-Agosto, Julian A.
AU - Marwaha, Shruti
AU - McCauley, Jacob
AU - McConkie-Rosell, Allyn
AU - McGee, Elisabeth
AU - Mefford, Heather
AU - Merritt, J. Lawrence
AU - Might, Matthew
AU - Mirzaa, Ghayda
AU - Morava, Eva
AU - Moretti, Paolo
AU - Mulvihill, John
AU - Nakano-Okuno, Mariko
AU - Nelson, Stanley F.
AU - Newman, John H.
AU - Nicholas, Sarah K.
AU - Nickerson, Deborah
AU - Nieves-Rodriguez, Shirley
AU - Novacic, Donna
AU - Oglesbee, Devin
AU - Orengo, James P.
AU - Pace, Laura
AU - Pak, Stephen
AU - Pallais, J. Carl
AU - Palmer, Christina G.S.
AU - Papp, Jeanette C.
AU - Parker, Neil H.
AU - Phillips, John A.
AU - Posey, Jennifer E.
AU - Potocki, Lorraine
AU - Swerdzewski, Barbara N.Pusey
AU - Quinlan, Aaron
AU - Rao, Deepak A.
AU - Raper, Anna
AU - Raskind, Wendy
AU - Renteria, Genecee
AU - Reuter, Chloe M.
AU - Rives, Lynette
AU - Robertson, Amy K.
AU - Rodan, Lance H.
AU - Rosenfeld, Jill A.
AU - Rosenwasser, Natalie
AU - Schedl, Timothy
AU - Shin, Jimann
AU - Solnica-Krezel, Lilianna
AU - Wambach, Jennifer
N1 - Funding Information: The Undiagnosed Diseases Network (UDN) is a large collaborative national research network that aims to help individuals with unknown conditions reach a diagnosis. As such, the UDN has a dual clinical and research mission. Its goals are to provide answers for patients with undiagnosed conditions while also generating new knowledge about underlying mechanisms and human physiology using advanced clinical and genomic technologies [–]. The UDN is based in the United States and is funded by the National Institutes of Health (NIH), an entity of the federal government. The UDN has several components: a coordinating center, 12 clinical sites, and 4 core laboratories—a sequencing core that provides exome and genome sequencing for the UDN, a model organisms screening center that investigates the potential pathogenicity of variants identified in the genomes of UDN participants, a metabolomics core that studies the underlying biochemistry of UDN biological samples, and a central biorepository that stores UDN biological samples for future use. Funding Information: Data reported in this manuscript were supported by the National Institutes of Health (NIH) Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under Award Number U01HG007530. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Funding Information: First, we wholeheartedly thank the Undiagnosed Diseases Network (UDN) participants and caregivers who were willing to share their time and thoughts with us. We also gratefully thank the Participant Engagement and Empowerment Resource (PEER) participants and UDN site coordinators who commented on the focus group guide and other aspects of this study. Finally, we thank Ariel Schwartz, PhD and Erika Gaitan, MSW for their best practice guidance for conducting virtual focus groups. Please see full UDN Member List below. Maria T. Acosta, Margaret Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, Rosario Corona, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Marni Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Page C. Goddard, Rena A. Godfrey, Katie Golden-Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Sarah Hutchison, Wendy Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Jennifer Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Kimberly LeBlanc, Brendan H. Lee, Roy Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Rachel Mahoney, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo Moretti, John Mulvihill, Mariko Nakano-Okuno, Stanley F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips III, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey Swerdzewski, Aaron Quinlan, Deepak A. Rao, Anna Raper, Wendy Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, C. Ron Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen Sullivan, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Queenie K.-G. Tan, Amelia L. M. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Rachel A. Ungar, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Stephanie Wallace, Nicole M. Walley, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Kim Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Zhe Zhang, Stephan Zuchner. Publisher Copyright: © 2023, The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - 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.
AB - 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.
KW - Clinical evaluation
KW - Multidisciplinary research
KW - Patient experience
KW - Patient perspective
KW - Qualitative methods
KW - Rare disease
KW - Undiagnosed disease
UR - http://www.scopus.com/inward/record.url?scp=85152022807&partnerID=8YFLogxK
U2 - 10.1186/s13023-023-02695-5
DO - 10.1186/s13023-023-02695-5
M3 - Article
C2 - 37032333
AN - SCOPUS:85152022807
SN - 1750-1172
VL - 18
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 73
ER -