Elliott Alison M, du Souich Christèle, Adam Shelin, Dragojlovic Nick, van Karnebeek Clara, Nelson Tanya N, Lehman Anna, Lynd Larry D, Friedman Jan M
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
BC Children's Hospital Research Institute, Vancouver, BC, Canada.
Mol Genet Genomic Med. 2018 May 30;6(4):592-600. doi: 10.1002/mgg3.410.
Access to clinical diagnostic genome-wide sequencing (GWS; exome or whole genome sequencing) is limited in British Columbia. The establishment of a translational research initiative (CAUSES) to provide diagnostic genome-wide sequencing for 500 children necessitated the development of a genomic consultation service, a clinical service established to provide consultation for physicians considering GWS for their pediatric patients throughout British Columbia. The Genomic Consultation Service provides patient-specific genomic advice that may include: GWS, multi-gene panel, single gene test, referral to medical genetics for clinical evaluation, or no genetic testing. Here, we describe and evaluate this service.
We analyzed referral patterns, patient demographics, clinical indications, and genomic advice provided during the first year of this service. Comparison of outcomes from the first 6 months versus the last 6 months was performed.
A total of 407 referrals (238 males and 169 females [p = .0006]) were processed in the first year. Only children were eligible for referral and average patient age was 8 years. Medical genetics was the most frequent referring discipline, followed by biochemical disease and pediatric neurology, respectively. Most patients (68%) had syndromic intellectual disability. There was a significant difference in the frequency of referrals not appropriate for GWS in the first versus the second 6 months of the service (75/220 vs. 42/187; p = .01) suggesting increasing awareness of testing criteria by referring physicians.
This triage service is utilized throughout the province and appears to be an important factor in the high diagnostic rate (>40%) achieved in our GWS program.
在不列颠哥伦比亚省，临床诊断性全基因组测序（GWS；外显子组或全基因组测序）的获取机会有限。为500名儿童提供诊断性全基因组测序的转化研究计划（CAUSES）的建立，使得有必要开发一项基因组咨询服务，这是一项临床服务，旨在为考虑为其在不列颠哥伦比亚省的儿科患者进行GWS的医生提供咨询。基因组咨询服务提供针对患者的基因组建议，可能包括：GWS、多基因检测板、单基因检测、转介至医学遗传学进行临床评估，或不进行基因检测。在此，我们描述并评估这项服务。
我们分析了该服务第一年期间的转诊模式、患者人口统计学特征、临床指征以及提供的基因组建议。对前6个月与后6个月的结果进行了比较。
第一年共处理了407例转诊（238名男性和169名女性[p = 0.0006]）。只有儿童有资格被转诊，患者平均年龄为8岁。医学遗传学是最常见的转诊学科，其次分别是生化疾病和儿科神经学。大多数患者（68%）患有综合征性智力残疾。在该服务的前6个月与后6个月中，不适合GWS的转诊频率存在显著差异（75/220对42/187；p = 0.01），这表明转诊医生对检测标准的认识有所提高。
这项分诊服务在全省范围内得到利用，似乎是我们的GWS项目实现高诊断率（>40%）的一个重要因素。
