eP236: TeleKidSeq: Incorporating Telehealth Into Clinical Care of Children From Diverse Backgrounds Undergoing Clinical Genome Sequencing

Author Type(s)

Faculty

Document Type

Abstract

Publication Date

2022

DOI

10.1016/j.gim.2022.01.271

Journal Title

Genetics in Medicine

Department

Pediatrics

Abstract

Introduction: The global pandemic required healthcare institutions and clinical research programs to adapt quickly to non-traditional care models. TeleKidSeq is a pilot study that emerged from the NYCKidSeq program, an NIH-funded Clinical Sequencing Evidence-Generating (CSER) Consortium site focused on incorporating genomic medicine into the care of diverse New York City children with suspected genetic disorders. Embracing the opportunity to study the use of telehealth in delivering genomic results, TeleKidSeq will examine the impact of innovative remote genetic counseling modalities in medically underserved populations. Studies focusing on the use of telehealth performed before the COVID-19 pandemic have shown that patients prefer in-person visits to virtual visits; however, with the increased familiarity and widespread use of virtual platforms, we anticipate an increase in the preference for telehealth visits. TeleKidSeq aims to fill the gaps in current knowledge on the impact of visual aids in telehealth in diverse urban patient populations. Methods: TeleKidSeq will recruit 496 pediatric participants (aged 0-21 years) with neurologic, immunologic, or cardiac conditions suspected to have an underlying genetic cause who receive care predominantly within two large health systems in the New York metropolitan area. The Mount Sinai Genomics Stakeholder Board, consisting of diverse stakeholders and key community advisors, provided guidance about our study design and materials. Participants will be English- or Spanish-speaking, and based on prior enrollment data from NYCKidSeq study, we expect more than 65% will be from populations underrepresented in medical research. Prior to enrollment, participants will be randomized to receive their genomic results from a genetic counselor via telehealth either with screen sharing (ScrS) or without screen sharing (NScrS). All participants will receive genome sequencing (GS) from a clinically validated laboratory. Additionally, we will use GUÍA, a web-based application designed to enhance the delivery of genomic test results, in both the ScrC and NScrS arms to facilitate delivery of individualized genomic results and clinical information in a personalized, highly visual, and narrative manner. Surveys administered at baseline, after results disclosure, and 6-months post-results disclosure will be used to evaluate study outcomes. The primary outcome of the TeleKidSeq study will be participants’ perceived understanding of their GS results with a comparison between the results disclosed via videoconferencing with ScrS and NScrS arms. Secondary outcomes will include: objective understanding of GS results; understanding of medical follow-up recommendations and the actionability of genome sequencing results; adherence to medical follow-up recommendations made based on genomic results; and satisfaction with and ease of use of the telehealth experience, compared across the two arms. Diagnostic yield, clinical utility and cost of GS will also be assessed. Results: Not applicable. Conclusion: Overall, 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.

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