The Telekidseq Pilot Study: Incorporating Telehealth Into Clinical Care of Children From Diverse Backgrounds Undergoing Whole Genome Sequencing

Authors

Monisha Sebastin, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Jacqueline A. Odgis, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Sabrina A. Suckiel, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Katherine E. Bonini, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Miranda Di Biase, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Kaitlyn Brown, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Priya Marathe, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nicole R. Kelly, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Michelle A. Ramos, Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jessica E. Rodriguez, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Karla López Aguiñiga, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jessenia Lopez, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Estefany Maria, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Michelle A. Rodriguez, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nicole M. Yelton, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Charlotte Cunningham-Rundles, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Katie Gallagher, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Thomas V. McDonald, Department of Medicine (Cardiology), Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Patricia E. McGoldrick, Department of Pediatrics, Division of Child Neurology, New York Medical College, Valhalla, NY, USA.
Mimsie Robinson, Bethel Gospel Assembly, New York, NY, USA.
Arye Rubinstein, Department of Allergy and Immunology, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Lisa H. Shulman, Department of Pediatrics, Division of Developmental Medicine, Rose F. Kennedy Children's Evaluation & Rehabilitation Center at Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Steven M. Wolf, Department of Pediatrics, Division of Child Neurology, New York Medical College, Valhalla, NY, USA.
Elissa Yozawitz, Isabelle Rapin Division of Child Neurology of the Saul R Korey Department of Neurology at Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Randi E. Zinberg, Department of Genetics and Genomic Sciences , Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Noura S. Abul-Husn, The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.Follow
Laurie J. Bauman, Department of Pediatrics, Division of Ambulatory Pediatrics, Albert Einstein College of Medicine, Bronx, NY, USA.
George A. Diaz, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bart S. Ferket, Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
John M. Greally, Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA.
Vaidehi Jobanputra, Molecular Diagnostics, New York Genome Center, New York, NY, USA.
Bruce D. Gelb, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Author Type(s)

Faculty

DOI

10.1186/s40814-023-01259-5

Journal Title

Pilot and Feasibility Studies

First Page

47

Document Type

Article

Publication Date

3-22-2023

Department

Pediatrics

Abstract

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.

Recommended Citation

Sebastin, M., Odgis, J. A., Suckiel, S. A., Bonini, K. E., Di Biase, M., Brown, K., Marathe, P., Kelly, N. R., Ramos, M. A., Rodriguez, J. E., Aguiñiga, K. L., Lopez, J., Maria, E., Rodriguez, M. A., Yelton, N. M., Cunningham-Rundles, C., Gallagher, K., McDonald, T. V., McGoldrick, P. E., Robinson, M., Rubinstein, A., Shulman, L. H., Wolf, S. M., Yozawitz, E., Zinberg, R. E., Abul-Husn, N. S., Bauman, L. J., Diaz, G. A., Ferket, B. S., Greally, J. M., Jobanputra, V., & Gelb, B. D. (2023). The Telekidseq Pilot Study: Incorporating Telehealth Into Clinical Care of Children From Diverse Backgrounds Undergoing Whole Genome Sequencing. Pilot and Feasibility Studies, 9 (1), 47. https://doi.org/10.1186/s40814-023-01259-5