TY - JOUR
T1 - The TeleKidSeq pilot study
T2 - incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing
AU - Sebastin, Monisha
AU - Odgis, Jacqueline A.
AU - Suckiel, Sabrina A.
AU - Bonini, Katherine E.
AU - Di Biase, Miranda
AU - Brown, Kaitlyn
AU - Marathe, Priya
AU - Kelly, Nicole R.
AU - Ramos, Michelle A.
AU - Rodriguez, Jessica E.
AU - Aguiñiga, Karla López
AU - Lopez, Jessenia
AU - Maria, Estefany
AU - Rodriguez, Michelle A.
AU - Yelton, Nicole M.
AU - Cunningham-Rundles, Charlotte
AU - Gallagher, Katie
AU - McDonald, Thomas V.
AU - McGoldrick, Patricia E.
AU - Robinson, Mimsie
AU - Rubinstein, Arye
AU - Shulman, Lisa H.
AU - Wolf, Steven M.
AU - Yozawitz, Elissa
AU - Zinberg, Randi E.
AU - Abul-Husn, Noura S.
AU - Bauman, Laurie J.
AU - Diaz, George A.
AU - Ferket, Bart S.
AU - Greally, John M.
AU - Jobanputra, Vaidehi
AU - Gelb, Bruce D.
AU - Horowitz, Carol R.
AU - Kenny, Eimear E.
AU - Wasserstein, Melissa P.
N1 - Funding Information:
The authors would like to thank the following individuals: the Mount Sinai Genomics Stakeholder Board who have advised us on all aspects of the project, Hernis de la Cruz, Maite La Vega-Talbott, Walter Molofsky, Hillary Raynes, David M. Kaufman, Toni Kavanagh, Joy Stennett, Leora Sperber, Wilson Heredia-Nunez, Pilar Trelles, Alexander Kolevzon, Miwa Geiger, Lauren Glass, Robert Pass, Erin Paul, Julie Flom, John Hsi-en Ho, Nathalie Jette, Madeline Fields, Lara Marcuse, Jiyeoun Yoo, Lorraine Rodriguez, Andrej Bogojevic, Paola Carugno, Andres Caceres, Manoj Gupta, Vesna Micic, Reymundo Lozano, Soledad Puente-Guzmán, Blake Rosenthal, Jules Beal, Paul Levy, Sheri Escalante, Puja Patel, Robert Marion, Zachary Hena, Bradley Clark, Daphne Hsu, Neha Bhatia, Christine Walsh, Karen Ballaban-Gil, Kimberly Reidy, Daniel Lax, Mohamad Saifeddine, Rana Jehle, Tatyana Gavrilova, Gregory Gutin, Nagma Dalvi, Elisa Muniz, Koshi Cherian, Mana Mann, Sarah Van Dine, Maris Rosenberg, Maria Valicenti Mcdermott, Rosa Seijo, Lisa Shulman, Elisa Muniz, Meghan Keenan Breheney, Michael Satzer, Jennifer Yoffe, Dona Rani Kathirithamby, Sindhu Gupta, Gina Cassel, Parmpreet Kaur, Rachel Eisenberg, Margo S.Breilyn, Emily Jackness, Arjola Cosper, Joanna Grater, Gina Cassel, Isaac Molinero, Jenny Shliozberg, Richard Sidlow, Larry Bernstein, Zoya Treyster, Leslie Delfiner, Susan Duberstein, Farah Dosani, Donya Eizadkhah, Michele Laverdiere, Neha Bansal, Preethi Fernandez, Merryl A Schechtman, Solomon Moshe, Kimberly Ann O'Neill, Aparna Polavarapu, Cheryl Fields, and Breck Borcherding. We extend our profound appreciation to the parents and children who participated in this study; without whom studies like this would not be possible. National Institutes of Health. Principal investigators will review topics suggested for presentation or publication and will determine lead author(s). Any disputes regarding authorship will be resolved by the principal investigators. Any significant changes to the protocol outlined above will be written in a formal amendment. The amendment must be approved by both Institutional Review Boards at the Icahn School of Medicine and Albert Einstein College of Medicine/Montefiore Medical Center. TeleKidSeq Protocol version 2, April 19, 2021.
Funding Information:
Research reported in this publication was supported by the National Human Genome Research Institute and National Institute for Minority Heath and Health Disparities of the National Institutes of Health under Award Number 1U01HG0096108. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Funding Information:
NYCKidSeq is a multi-institutional, clinical genomics research program in New York City (NYC). It is one of six research programs funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) consortium, jointly funded by the National Human Genome Research Institute and the National Institute on Minority Health and Health Disparities []. NYCKidSeq is focused on developing and testing strategies for enhancing communication of genomic information in health systems and evaluating the utility of advanced genomic sequencing technology for improving diagnostic rates in populations representative of the rich diversity of NYC []. With the continued threat of COVID-19, healthcare centers and research programs have adapted their service delivery models to protect patients and providers from possible exposure []. When the NYCKidSeq clinical trial was interrupted by institutionally required changes to in-person patient care, we recognized the opportunity to evaluate alternative forms of genomic communication with families from underserved populations. TeleKidSeq is a pilot study emerging from the NYCKidSeq program that was developed to examine the impact of innovative remote genetic counseling modalities in medically underserved populations who historically have had limited access to genetics services.
Publisher Copyright:
© 2023, The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - Background: The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase access to genomic medicine to medically underserved populations, yet little is known about how best to communicate genomic results via telehealth while also ensuring equitable access. NYCKidSeq, a multi-institutional clinical genomics research program in New York City, launched the TeleKidSeq pilot study to assess alternative forms of genomic communication and telehealth service delivery models with families from medically underserved populations. Methods: We aim to enroll 496 participants between 0 and 21 years old to receive clinical genome sequencing. These individuals have a neurologic, cardiovascular, and/or immunologic disease. Participants will be English- or Spanish-speaking and predominantly from underrepresented groups who receive care in the New York metropolitan area. Prior to enrollment, participants will be randomized to either genetic counseling via videoconferencing with screen-sharing or genetic counseling via videoconferencing without screen-sharing. Using surveys administered at baseline, results disclosure, and 6-months post-results disclosure, we will evaluate the impact of the use of screen-sharing on participant understanding, satisfaction, and uptake of medical recommendations, as well as the psychological and socioeconomic implications of obtaining genome sequencing. Clinical utility, cost, and diagnostic yield of genome sequencing will also be assessed. Discussion: The TeleKidSeq pilot study will contribute to innovations in communicating genomic test results to diverse populations through telehealth technology. In conjunction with NYCKidSeq, this work will inform best practices for the implementation of genomic medicine in diverse, English- and Spanish-speaking populations.
AB - Background: The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase access to genomic medicine to medically underserved populations, yet little is known about how best to communicate genomic results via telehealth while also ensuring equitable access. NYCKidSeq, a multi-institutional clinical genomics research program in New York City, launched the TeleKidSeq pilot study to assess alternative forms of genomic communication and telehealth service delivery models with families from medically underserved populations. Methods: We aim to enroll 496 participants between 0 and 21 years old to receive clinical genome sequencing. These individuals have a neurologic, cardiovascular, and/or immunologic disease. Participants will be English- or Spanish-speaking and predominantly from underrepresented groups who receive care in the New York metropolitan area. Prior to enrollment, participants will be randomized to either genetic counseling via videoconferencing with screen-sharing or genetic counseling via videoconferencing without screen-sharing. Using surveys administered at baseline, results disclosure, and 6-months post-results disclosure, we will evaluate the impact of the use of screen-sharing on participant understanding, satisfaction, and uptake of medical recommendations, as well as the psychological and socioeconomic implications of obtaining genome sequencing. Clinical utility, cost, and diagnostic yield of genome sequencing will also be assessed. Discussion: The TeleKidSeq pilot study will contribute to innovations in communicating genomic test results to diverse populations through telehealth technology. In conjunction with NYCKidSeq, this work will inform best practices for the implementation of genomic medicine in diverse, English- and Spanish-speaking populations.
KW - Clinical utility
KW - Genetic counseling
KW - Genomic sequencing
KW - Healthcare utilization
KW - Pediatric genetics
KW - Telegenetics
KW - Telehealth
KW - Underrepresented populations
KW - Whole genome sequencing
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U2 - 10.1186/s40814-023-01259-5
DO - 10.1186/s40814-023-01259-5
M3 - Article
AN - SCOPUS:85150935897
SN - 2055-5784
VL - 9
JO - Pilot and Feasibility Studies
JF - Pilot and Feasibility Studies
IS - 1
M1 - 47
ER -