Ramos Michelle A, Bonini Katherine E, Scarimbolo Laura, Kelly Nicole R, Insel Beverly, Suckiel Sabrina A, Brown Kaitlyn, Di Biase Miranda, Gallagher Katie M, Lopez Jessenia, Aguiñiga Karla López, Marathe Priya N, Maria Estefany, Odgis Jacqueline A, Rodriguez Jessica E, Rodriguez Michelle A, Ruiz Nairovylex, Sebastin Monisha, Yelton Nicole M, Cunningham-Rundles Charlotte, Gertner Melvin, Laguerre Irma, McDonald Thomas V, McGoldrick Patricia E, Robinson Mimsie, Rubinstein Arye, Shulman Lisa H, Williams Trinisha, Wolf Steven M, Yozawitz Elissa G, Zinberg Randi E, Abul-Husn Noura S, Bauman Laurie J, Diaz George A, Ferket Bart S, Greally John M, Jobanputra Vaidehi, Gelb Bruce D, Kenny Eimear E, Wasserstein Melissa P, Horowitz Carol R
Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Am J Hum Genet. 2024 Dec 5;111(12):2607-2617. doi: 10.1016/j.ajhg.2024.10.015. Epub 2024 Nov 19.
Underrepresentation in clinical genomics research limits the generalizability of findings and the benefits of scientific discoveries. We describe the impact of patient-centered, data-driven recruitment and retention strategies in a pediatric genome sequencing study. We collaborated with a stakeholder board, conducted formative research with adults whose children had undergone genomic testing, and piloted and revised study approaches and materials. Our approaches included racially, ethnically, and linguistically congruent study staff, relational interactions, study visit flexibility, and data-informed quality improvement. Of 1,656 eligible children, only 6.5% declined. Their parents/legal guardians were 76.9% non-White, 65.6% had public health insurance for the child, 49.9% lived below the federal poverty level, and 52.8% resided in a medically underserved area. Among those enrolled, 87.3% completed all study procedures. There were no sociodemographic differences between those who enrolled and declined or between those retained and lost to follow-up. We outline stakeholder-engaged approaches that may have led to the successful enrollment and retention of diverse families. These approaches may inform future research initiatives aiming to engage and retain underrepresented populations in genomics medicine research.
临床基因组学研究中代表性不足限制了研究结果的普遍性以及科学发现所带来的益处。我们描述了以患者为中心、数据驱动的招募和留用策略在一项儿科基因组测序研究中的影响。我们与一个利益相关者委员会合作,对其子女接受过基因组检测的成年人进行了形成性研究,并对研究方法和材料进行了试点和修订。我们的方法包括种族、民族和语言相匹配的研究人员、建立关系的互动、灵活的研究访问安排以及基于数据的质量改进。在1656名符合条件的儿童中,只有6.5%拒绝参与。他们的父母/法定监护人中76.9%为非白人,65.6%的儿童拥有公共医疗保险,49.9%的家庭生活在联邦贫困线以下,52.8%居住在医疗服务不足的地区。在已登记的儿童中,87.3%完成了所有研究程序。登记和拒绝参与的儿童之间以及留用和失访的儿童之间在社会人口统计学方面没有差异。我们概述了可能促成成功招募和留用不同家庭的利益相关者参与方法。这些方法可能为未来旨在让基因组医学研究中代表性不足的人群参与并留用的研究倡议提供参考。