Cascade genetic testing is the identification of individuals at risk for a hereditary condition by genetic testing in relatives of people known to possess particular genetic variants. Cascade testing has health system implications, however cascade costs and health effects are not considered in health technology assessments (HTAs) that focus on costs and health consequences in individual patients. Cascade health service use must be better understood to be incorporated in HTA of emerging genetic tests for children. The purpose of this review was to characterise published research related to patterns and costs of cascade health service use by relatives of children with any condition diagnosed through genetic testing. To this end, a scoping literature review was conducted. Citation databases were searched for English-language papers reporting uptake, costs, downstream health service use, or cost-effectiveness of cascade investigations of relatives of children who receive a genetic diagnosis. Included publications were critically appraised, and findings were synthesised. Twenty publications were included. Sixteen had a paediatric proband population; four had a combined paediatric and adult proband population. Uptake of cascade testing varied across diseases, from 37% for cystic fibrosis, 39% to 65% for hypertrophic cardiomyopathy, and 90% for rare monogenic conditions. Two studies evaluated costs. It was concluded that cascade testing in the child-to-parent direction has been reported in a variety of diseases, and that understanding the scope of cascade testing will aid in the design and conduct of HTA of emerging genetic technologies to better inform funding and policy decisions.

级联基因检测是通过对已知具有特定遗传变异的人的亲属进行基因检测来识别有遗传疾病风险的个体。级联测试对卫生系统有影响，但在关注个体患者成本和健康后果的卫生技术评估 (HTA) 中未考虑级联成本和健康影响。必须更好地理解级联卫生服务的使用，以便将其纳入新兴儿童基因检测的 HTA。这篇综述的目的是描述已发表的研究，这些研究与通过基因检测诊断出患有任何疾病的儿童的亲属使用级联医疗服务的模式和成本有关。为此，进行了范围界定的文献综述。在引文数据库中搜索报告吸收情况的英语论文，对接受基因诊断的儿童亲属进行级联调查的成本、下游卫生服务使用或成本效益。包含的出版物经过严格评估，并综合了调查结果。包括 20 份出版物。16 名有儿科先证者；四个有合并的儿科和成人先证者人群。级联检测的采用率因疾病而异，囊性纤维化为 37%，肥厚型心肌病为 39% 至 65%，罕见单基因疾病为 90%。两项研究评估了成本。得出的结论是，在多种疾病中报告了儿童对父母方向的级联测试，了解级联测试的范围将有助于新兴遗传技术的 HTA 的设计和实施，以更好地为资金和政策提供信息决定。下游卫生服务的使用，或对接受基因诊断的儿童亲属进行级联调查的成本效益。包含的出版物经过严格评估，并综合了调查结果。包括 20 份出版物。16 名有儿科先证者；四个有合并的儿科和成人先证者人群。级联检测的采用率因疾病而异，囊性纤维化为 37%，肥厚型心肌病为 39% 至 65%，罕见单基因疾病为 90%。两项研究评估了成本。得出的结论是，在多种疾病中报告了儿童对父母方向的级联测试，了解级联测试的范围将有助于新兴遗传技术的 HTA 的设计和实施，以更好地为资金和政策提供信息决定。下游卫生服务的使用，或对接受基因诊断的儿童亲属进行级联调查的成本效益。包含的出版物经过严格评估，并综合了调查结果。包括 20 份出版物。16 名有儿科先证者；四个有合并的儿科和成人先证者人群。级联检测的采用率因疾病而异，囊性纤维化为 37%，肥厚型心肌病为 39% 至 65%，罕见单基因疾病为 90%。两项研究评估了成本。得出的结论是，在多种疾病中报告了儿童对父母方向的级联测试，了解级联测试的范围将有助于新兴遗传技术的 HTA 的设计和实施，以更好地为资金和政策提供信息决定。