Sebastin Monisha, Odgis Jacqueline A, Suckiel Sabrina A, Bonini Katherine E, Di Biase Miranda, Brown Kaitlyn, Marathe Priya, Kelly Nicole R, Ramos Michelle A, Rodriguez Jessica E, Aguiñiga Karla López, Lopez Jessenia, Maria Estefany, Rodriguez Michelle A, Yelton Nicole M, Cunningham-Rundles Charlotte, Gallagher Katie, McDonald Thomas V, McGoldrick Patricia E, Robinson Mimsie, Rubinstein Arye, Shulman Lisa H, Wolf Steven M, Yozawitz Elissa, Zinberg Randi E, Abul-Husn Noura S, Bauman Laurie J, Diaz George A, Ferket Bart S, Greally John M, Jobanputra Vaidehi, Gelb Bruce D, Horowitz Carol R, Kenny Eimear E, Wasserstein Melissa P
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.
The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Pilot Feasibility Stud. 2023 Mar 22;9(1):47. doi: 10.1186/s40814-023-01259-5.
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.
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.
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.
新冠疫情迫使医疗机构和许多临床研究项目采用远程医疗模式，以减缓病毒传播。随着远程医疗的广泛应用，为医疗服务不足人群增加获取基因组医学服务的机会成为可能，但对于如何通过远程医疗以最佳方式传达基因组检测结果并确保公平获取，我们却知之甚少。纽约儿童基因组测序项目（NYCKidSeq）是纽约市的一项多机构临床基因组学研究项目，启动了远程儿童基因组测序试点研究，以评估与医疗服务不足人群家庭进行基因组信息交流的替代形式以及远程医疗服务提供模式。
我们旨在招募496名年龄在0至21岁之间的参与者接受临床基因组测序。这些个体患有神经、心血管和/或免疫疾病。参与者将说英语或西班牙语，主要来自在纽约大都市地区接受治疗的代表性不足群体。在招募之前，参与者将被随机分配到通过视频会议共享屏幕进行遗传咨询或通过不共享屏幕的视频会议进行遗传咨询。通过在基线、结果披露时以及结果披露后6个月进行的调查，我们将评估使用屏幕共享对参与者理解、满意度以及对医疗建议的接受程度的影响，以及获取基因组测序的心理和社会经济影响。还将评估基因组测序的临床实用性、成本和诊断率。
远程儿童基因组测序试点研究将有助于通过远程医疗技术在向不同人群传达基因组检测结果方面实现创新。与纽约儿童基因组测序项目相结合，这项工作将为在不同的英语和西班牙语人群中实施基因组医学的最佳实践提供参考。
