Utility of Genomic Sequencing in Community Care Contexts

项目摘要/摘要 将基因组测序技术转化为临床护理的努力面临着持续不断的挑战， 和衡量效用。在努力实现以下目标的背景下，对效用(和非效用)的评估尤其困难 将外显子组测序(ES)和基因组测序(GS)等基因组测序技术转化为 诊断患有未诊断的遗传疾病的儿童，因为这些疾病很少对 药物干预和父母经常表达想要基因组的各种各样的原因 为他们的孩子做诊断。我们假设之前确定影响的努力(积极、消极和 中性)的ES和GS错过了重要的效用维度，这些维度落在 临床和个人效用的传统观念。大多数改善功能和服务的护理和服务 患有复杂遗传疾病的儿童的生活质量出现在医生办公室之外：物理治疗； 职业治疗；言语-语言病理学；行为干预和其他心理保健；以及 特殊教育服务。然而，目前尚不清楚接受基因组诊断是否能提供 在这些社区环境中的效用或非效用，以及可能需要哪些证据来增加效用和 最大限度地减少无用之处。该项目将通过对潜在和实际影响的严格研究来解决这一差距 患有未确诊遗传疾病的儿童可能会在社区环境中经历 基因组诊断。这项研究的总体目标是确定(1)目前基于社区的公用事业 在基因组诊断后实现，(2)基于社区的专业人员关于 此类诊断的潜在用途，以及(3)信息来源(包括医疗专业人员、家长 支持团体和社交媒体)，可能会支持对罕见遗传疾病的实用。

PROJECT SUMMARY/ABSTRACT Efforts to translate genomic sequencing technologies into clinical care have faced ongoing challenges defining and measuring utility. Evaluation of utility (and disutility) is particularly difficult in the context of efforts to translate genomic sequencing technologies like exome sequencing (ES) and genome sequencing (GS) to the diagnosis of children with undiagnosed genetic conditions, since these conditions are rarely responsive to pharmacological interventions and parents often express a wide variety of reasons for wanting a genomic diagnosis for their child. We hypothesize that previous efforts to identify the effects (positive, negative, and neutral) of ES and GS have missed important dimensions of utility that fall in the “middle ground” between conventional notions of clinical and personal utility. Most of the care and services that improve functioning and quality of life for children with complex genetic conditions occur outside doctors’ offices: physical therapy; occupational therapy; speech-language pathology; behavioral intervention and other mental healthcare; and special education services. However, it is unknown whether receiving a genomic diagnosis currently provides utility or disutility in these community contexts, and what evidence might be needed to increase utility and minimize disutility. This project will address this gap through a rigorous study of potential and actual effects that children with undiagnosed genetic conditions might experience in community settings as a result of receiving a genomic diagnosis. The overall aim of this study is to identify (1) community-based utilities currently being realized following genomic diagnosis, (2) perspectives of community-based professionals regarding the potential utility of such diagnoses, and (3) sources of information (including medical professionals, parent support groups, and social media) that might support utility for rare genetic conditions.