Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Undiagnosed Diseases Network; Meghan C. Halley; Jennifer L. Young; Charis Tang; Kevin T. Mintz; Sawyer Lucas-Griffin; Audrey Stephannie Maghiro; Euan A. Ashley; Holly K. Tabor; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; 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; 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; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; 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; Patricia Dickson; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; 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; 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; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; 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 J. Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; 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; 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; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Jennifer Wambach

doi:10.1016/j.jpeds.2023.113537

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Undiagnosed Diseases Network, Meghan C. Halley, Jennifer L. Young, Charis Tang, Kevin T. Mintz, Sawyer Lucas-Griffin, Audrey Stephannie Maghiro, Euan A. Ashley, Holly K. Tabor, Maria T. Acosta, Margaret Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura Amendola, Ashley Andrews, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin BaldridgeJim 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, 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, Ivan Chinn, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, 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, Patricia Dickson, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, 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, 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, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, 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 J. Mulvihill, Mariko Nakano-Okuno, Stanley F. Nelson, John H. Newman, 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, 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, Timothy Schedl, Jimann Shin, Lilianna Solnica-Krezel, Jennifer Wambach

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

Objective: To explore the perspectives of parents of undiagnosed children enrolled in genomic diagnosis research regarding their motivations for enrolling their children, their understanding of the potential burdens and benefits, and the extent to which their experiences ultimately aligned with or diverged from their original expectations. Study design: In-depth interviews were conducted with parents, audio-recorded and transcribed. A structured codebook was applied to each transcript, after which iterative memoing was used to identify themes. Results: Fifty-four parents participated, including 17 (31.5%) whose child received a diagnosis through research. Themes describing parents' expectations and experiences of genomic diagnosis research included (1) the extent to which parents' motivations for participation focused on their hope that it would directly benefit their child, (2) the ways in which parents’ frustrations regarding the research process confused the dual clinical and research goals of their participation, and (3) the limited clinical benefits parents ultimately experienced for their children. Conclusions: Our results suggest that parents of undiagnosed children seeking enrollment in genomic diagnosis research are at risk of a form of therapeutic misconception—in this case, diagnostic misconception. These findings indicate the need to examine the processes and procedures associated with this research to communicate appropriately and balance the potential burdens and benefits of study participation.

Original language	English
Article number	113537
Journal	Journal of Pediatrics
Volume	261
DOIs	https://doi.org/10.1016/j.jpeds.2023.113537
State	Published - Oct 2023

Keywords

genetics
pediatrics
rare diseases
research ethics
therapeutic misconception

Access to Document

10.1016/j.jpeds.2023.113537

Cite this

Undiagnosed Diseases Network, Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., Ashley, E. A., Tabor, H. K., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Bacino, C. A., Bademci, G., Balasubramanyam, A., ... Wambach, J. (2023). Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. Journal of Pediatrics, 261, Article 113537. https://doi.org/10.1016/j.jpeds.2023.113537

@article{fb93f4ee330a418c903b93346b73618e,

title = "Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care",

abstract = "Objective: To explore the perspectives of parents of undiagnosed children enrolled in genomic diagnosis research regarding their motivations for enrolling their children, their understanding of the potential burdens and benefits, and the extent to which their experiences ultimately aligned with or diverged from their original expectations. Study design: In-depth interviews were conducted with parents, audio-recorded and transcribed. A structured codebook was applied to each transcript, after which iterative memoing was used to identify themes. Results: Fifty-four parents participated, including 17 (31.5%) whose child received a diagnosis through research. Themes describing parents' expectations and experiences of genomic diagnosis research included (1) the extent to which parents' motivations for participation focused on their hope that it would directly benefit their child, (2) the ways in which parents{\textquoteright} frustrations regarding the research process confused the dual clinical and research goals of their participation, and (3) the limited clinical benefits parents ultimately experienced for their children. Conclusions: Our results suggest that parents of undiagnosed children seeking enrollment in genomic diagnosis research are at risk of a form of therapeutic misconception—in this case, diagnostic misconception. These findings indicate the need to examine the processes and procedures associated with this research to communicate appropriately and balance the potential burdens and benefits of study participation.",

keywords = "genetics, pediatrics, rare diseases, research ethics, therapeutic misconception",

author = "{Undiagnosed Diseases Network} and Halley, {Meghan C.} and Young, {Jennifer L.} and Charis Tang and Mintz, {Kevin T.} and Sawyer Lucas-Griffin and Maghiro, {Audrey Stephannie} and Ashley, {Euan A.} and Tabor, {Holly K.} and Acosta, {Maria T.} and Margaret Adam and Adams, {David R.} and Alvarez, {Raquel L.} and Justin Alvey and Laura Amendola and Ashley Andrews 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 Beverly Berg-Rood and Bernstein, {Jonathan A.} and Berry, {Gerard T.} and Anna Bican and Stephanie Bivona and Elizabeth Blue and John Bohnsack and Devon Bonner and Lorenzo Botto and Brenna Boyd and Briere, {Lauren C.} and Gabrielle Brown and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Butte, {Manish J.} and Peter Byers and Byrd, {William E.} and John Carey and Olveen Carrasquillo and Thomas Cassini and {Peter Chang}, {Ta Chen} 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 {Sessions Cole}, F. and Colley, {Heather A.} and Heidi Cope and Rosario Corona and Craigen, {William J.} and Crouse, {Andrew B.} and Michael Cunningham and Precilla D'Souza and Hongzheng Dai and Surendra Dasari and Joie Davis and Dayal, {Jyoti G.} and Dell'Angelica, {Esteban C.} and Patricia Dickson and Katrina Dipple and Daniel Doherty and Naghmeh Dorrani and Doss, {Argenia L.} and Douine, {Emilie D.} and Dawn Earl and Eckstein, {David J.} and Emrick, {Lisa T.} and Eng, {Christine M.} and Marni Falk and Fieg, {Elizabeth L.} and Fisher, {Paul G.} and Fogel, {Brent L.} and Irman Forghani and Gahl, {William A.} and Ian Glass and Bernadette Gochuico and Goddard, {Page C.} and Godfrey, {Rena A.} and Katie Golden-Grant and Alana Grajewski and Don Hadley and Sihoun Hahn and Rizwan Hamid 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 Sarah Hutchison and Wendy Introne and Rosario Isasi and Kosuke Izumi and Jarvik, {Gail P.} and Jeffrey Jarvik and Suman Jayadev and Orpa Jean-Marie and Vaidehi Jobanputra and Shamika Ketkar and Dana Kiley and Gonench Kilich and Kobren, {Shilpa N.} and Kohane, {Isaac S.} and Kohler, {Jennefer N.} and Susan Korrick and Mary Kozuira and Deborah Krakow and Krasnewich, {Donna M.} and Elijah Kravets and Lalani, {Seema R.} and Byron Lam and Christina Lam and Lanpher, {Brendan C.} and Lanza, {Ian R.} and Kimberly LeBlanc and Lee, {Brendan H.} and Roy Levitt and Lewis, {Richard A.} and Pengfei Liu and Liu, {Xue Zhong} and Nicola Longo and Loo, {Sandra K.} and Joseph Loscalzo and Maas, {Richard L.} and Macnamara, {Ellen F.} and MacRae, {Calum A.} and Maduro, {Valerie V.} and Rachel Mahoney and Malicdan, {May Christine V.} and Mamounas, {Laura A.} and Manolio, {Teri A.} and Rong Mao and Kenneth Maravilla 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 Jacob McCauley and Allyn McConkie-Rosell and McCray, {Alexa T.} and Elisabeth McGee and Heather Mefford and Merritt, {J. Lawrence} and Matthew Might and Ghayda Mirzaa and Eva Morava and Paolo Moretti and Mulvihill, {John J.} and Mariko Nakano-Okuno and Nelson, {Stanley F.} and Newman, {John H.} and Deborah Nickerson and Shirley Nieves-Rodriguez and Donna Novacic and Devin Oglesbee and Orengo, {James P.} and Laura Pace and Stephen Pak and {Carl Pallais}, J. and Palmer, {Christina G.S.} and Papp, {Jeanette C.} and Parker, {Neil H.} and Phillips, {John A.} and Posey, {Jennifer E.} and Lorraine Potocki and {Pusey Swerdzewski}, {Barbara N.} and Aaron Quinlan and Rao, {Deepak A.} and Anna Raper and Wendy Raskind and Genecee Renteria and Reuter, {Chloe M.} and Lynette Rives and Robertson, {Amy K.} and Rodan, {Lance H.} and Rosenfeld, {Jill A.} and Natalie Rosenwasser and Francis Rossignol and Timothy Schedl and Jimann Shin and Lilianna Solnica-Krezel and Jennifer Wambach",

note = "Publisher Copyright: {\textcopyright} 2023 Elsevier Inc.",

year = "2023",

month = oct,

doi = "10.1016/j.jpeds.2023.113537",

language = "English",

volume = "261",

journal = "Journal of Pediatrics",

issn = "0022-3476",

}

Undiagnosed Diseases Network, Halley, MC, Young, JL, Tang, C, Mintz, KT, Lucas-Griffin, S, Maghiro, AS, Ashley, EA, Tabor, HK, Acosta, MT, Adam, M, Adams, DR, Alvarez, RL, Alvey, J, Amendola, L, Andrews, A, Bacino, CA, Bademci, G, Balasubramanyam, A, Baldridge, D, Bale, J, Bamshad, M, Barbouth, D, Bayrak-Toydemir, P, Beck, A, Beggs, AH, Behrens, E, Bejerano, G, Bellen, HJ, Bennett, J, Berg-Rood, B, Bernstein, JA, Berry, GT, Bican, A, Bivona, S, Blue, E, Bohnsack, J, Bonner, D, Botto, L, Boyd, B, Briere, LC, Brown, G, Burke, EA, Burrage, LC, Butte, MJ, Byers, P, Byrd, WE, Carey, J, Carrasquillo, O, Cassini, T, Peter Chang, TC, Chanprasert, S, Chao, HT, Chinn, I, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Coggins, M, Sessions Cole, F, Colley, HA, Cope, H, Corona, R, Craigen, WJ, Crouse, AB, Cunningham, M, D'Souza, P, Dai, H, Dasari, S, Davis, J, Dayal, JG, Dell'Angelica, EC, Dickson, P, Dipple, K, Doherty, D, Dorrani, N, Doss, AL, Douine, ED, Earl, D, Eckstein, DJ, Emrick, LT, Eng, CM, Falk, M, Fieg, EL, Fisher, PG, Fogel, BL, Forghani, I, Gahl, WA, Glass, I, Gochuico, B, Goddard, PC, Godfrey, RA, Golden-Grant, K, Grajewski, A, Hadley, D, Hahn, S, Hamid, R, Hassey, K, Hayes, N, High, F, Hing, A, Hisama, FM, Holm, IA, Hom, J, Horike-Pyne, M, Huang, A, Hutchison, S, Introne, W, Isasi, R, Izumi, K, Jarvik, GP, Jarvik, J, Jayadev, S, Jean-Marie, O, Jobanputra, V, Ketkar, S, Kiley, D, Kilich, G, Kobren, SN, Kohane, IS, Kohler, JN, Korrick, S, Kozuira, M, Krakow, D, Krasnewich, DM, Kravets, E, Lalani, SR, Lam, B, Lam, C, Lanpher, BC, Lanza, IR, LeBlanc, K, Lee, BH, Levitt, R, Lewis, RA, Liu, P, Liu, XZ, Longo, N, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Mahoney, R, Malicdan, MCV, Mamounas, LA, Manolio, TA, Mao, R, Maravilla, K, Marom, R, Marth, G, Martin, BA, Martin, MG, Martínez-Agosto, JA, Marwaha, S, McCauley, J, McConkie-Rosell, A, McCray, AT, McGee, E, Mefford, H, Merritt, JL, Might, M, Mirzaa, G, Morava, E, Moretti, P, Mulvihill, JJ, Nakano-Okuno, M, Nelson, SF, Newman, JH, Nickerson, D, Nieves-Rodriguez, S, Novacic, D, Oglesbee, D, Orengo, JP, Pace, L, Pak, S, Carl Pallais, J, Palmer, CGS, Papp, JC, Parker, NH, Phillips, JA, Posey, JE, Potocki, L, Pusey Swerdzewski, BN, Quinlan, A, Rao, DA, Raper, A, Raskind, W, Renteria, G, Reuter, CM, Rives, L, Robertson, AK, Rodan, LH, Rosenfeld, JA, Rosenwasser, N, Rossignol, F, Schedl, T , Shin, J , Solnica-Krezel, L & Wambach, J 2023, 'Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care', Journal of Pediatrics, vol. 261, 113537. https://doi.org/10.1016/j.jpeds.2023.113537

TY - JOUR

T1 - Genomics Research with Undiagnosed Children

T2 - Ethical Challenges at the Boundaries of Research and Clinical Care

AU - Undiagnosed Diseases Network

AU - Halley, Meghan C.

AU - Young, Jennifer L.

AU - Tang, Charis

AU - Mintz, Kevin T.

AU - Lucas-Griffin, Sawyer

AU - Maghiro, Audrey Stephannie

AU - Ashley, Euan A.

AU - Tabor, Holly 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 - 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 - 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 - Peter Chang, Ta Chen

AU - Chanprasert, Sirisak

AU - Chao, Hsiao Tuan

AU - Chinn, Ivan

AU - Clark, Gary D.

AU - Coakley, Terra R.

AU - Cobban, Laurel A.

AU - Cogan, Joy D.

AU - Coggins, Matthew

AU - Sessions Cole, F.

AU - Colley, Heather A.

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 - Dickson, Patricia

AU - Dipple, Katrina

AU - Doherty, Daniel

AU - Dorrani, Naghmeh

AU - Doss, Argenia L.

AU - Douine, Emilie D.

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 - 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 - Jarvik, Gail P.

AU - Jarvik, Jeffrey

AU - Jayadev, Suman

AU - Jean-Marie, Orpa

AU - Jobanputra, Vaidehi

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 - LeBlanc, Kimberly

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 - McCray, Alexa T.

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 J.

AU - Nakano-Okuno, Mariko

AU - Nelson, Stanley F.

AU - Newman, John H.

AU - Nickerson, Deborah

AU - Nieves-Rodriguez, Shirley

AU - Novacic, Donna

AU - Oglesbee, Devin

AU - Orengo, James P.

AU - Pace, Laura

AU - Pak, Stephen

AU - Carl Pallais, J.

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 - Pusey Swerdzewski, Barbara N.

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 - Rossignol, Francis

AU - Schedl, Timothy

AU - Shin, Jimann

AU - Solnica-Krezel, Lilianna

AU - Wambach, Jennifer

PY - 2023/10

Y1 - 2023/10

N2 - Objective: To explore the perspectives of parents of undiagnosed children enrolled in genomic diagnosis research regarding their motivations for enrolling their children, their understanding of the potential burdens and benefits, and the extent to which their experiences ultimately aligned with or diverged from their original expectations. Study design: In-depth interviews were conducted with parents, audio-recorded and transcribed. A structured codebook was applied to each transcript, after which iterative memoing was used to identify themes. Results: Fifty-four parents participated, including 17 (31.5%) whose child received a diagnosis through research. Themes describing parents' expectations and experiences of genomic diagnosis research included (1) the extent to which parents' motivations for participation focused on their hope that it would directly benefit their child, (2) the ways in which parents’ frustrations regarding the research process confused the dual clinical and research goals of their participation, and (3) the limited clinical benefits parents ultimately experienced for their children. Conclusions: Our results suggest that parents of undiagnosed children seeking enrollment in genomic diagnosis research are at risk of a form of therapeutic misconception—in this case, diagnostic misconception. These findings indicate the need to examine the processes and procedures associated with this research to communicate appropriately and balance the potential burdens and benefits of study participation.

AB - Objective: To explore the perspectives of parents of undiagnosed children enrolled in genomic diagnosis research regarding their motivations for enrolling their children, their understanding of the potential burdens and benefits, and the extent to which their experiences ultimately aligned with or diverged from their original expectations. Study design: In-depth interviews were conducted with parents, audio-recorded and transcribed. A structured codebook was applied to each transcript, after which iterative memoing was used to identify themes. Results: Fifty-four parents participated, including 17 (31.5%) whose child received a diagnosis through research. Themes describing parents' expectations and experiences of genomic diagnosis research included (1) the extent to which parents' motivations for participation focused on their hope that it would directly benefit their child, (2) the ways in which parents’ frustrations regarding the research process confused the dual clinical and research goals of their participation, and (3) the limited clinical benefits parents ultimately experienced for their children. Conclusions: Our results suggest that parents of undiagnosed children seeking enrollment in genomic diagnosis research are at risk of a form of therapeutic misconception—in this case, diagnostic misconception. These findings indicate the need to examine the processes and procedures associated with this research to communicate appropriately and balance the potential burdens and benefits of study participation.

KW - genetics

KW - pediatrics

KW - rare diseases

KW - research ethics

KW - therapeutic misconception

UR - http://www.scopus.com/inward/record.url?scp=85163843917&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2023.113537

DO - 10.1016/j.jpeds.2023.113537

M3 - Article

C2 - 37271495

AN - SCOPUS:85163843917

SN - 0022-3476

VL - 261

JO - Journal of Pediatrics

JF - Journal of Pediatrics

M1 - 113537

ER -

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

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