Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada,European Journal of Medical Genetics

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Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada
European Journal of Medical Genetics ( IF 1.6 ) Pub Date : 2020-08-14 , DOI: 10.1016/j.ejmg.2020.104024
Courtney B Cook ₁ , Nick Dragojlovic ₂ , Angela Siemens ₁ , Shelin Adam ₃ , Christèle du Souich ₃ , Clara van Karnebeek ₄ , Anna Lehman ₃ , Tanya N Nelson ₅ , Jan Friedman ₃ , ₃ , ₁ , Larry D Lynd ₆ , Alison M Elliott ₇

Affiliation

Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Collaboration for Outcomes Research and Evaluation (CORE), Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands.
BC Children's Hospital Research Institute, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.
Collaboration for Outcomes Research and Evaluation (CORE), Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada; Centre for Health Evaluation and Outcomes Sciences (CHEOS), Providence Health Research Institute, Vancouver, BC, Canada.
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Women's Health Research Institute, Vancouver, BC, Canada.

Purpose

Clinical diagnostic genome-wide (exome or genome) sequencing (GWS) in British Columbia requires funding approval by a provincial agency on a case-by-case basis. The CAUSES Clinic was a pediatric translational trio-based GWS study at BC Children's and Women's Hospitals. Referrals to the CAUSES Clinic were made through a Genomic Consultation Service (GCS), a multidisciplinary team led by genetic counsellors that provided advice regarding genomic testing for physicians considering GWS for their patients. Here we review the outcomes of the GCS, focusing on patients not recommended for the CAUSES Study.

Methods

Demographic, clinical, and testing data were abstracted from patient charts. Logistic regression analysis was used to explore associations between demographic and clinical variables and two outcomes: the type of recommendation and referring physicians’ decisions to follow the recommendation.

Results

Of 972 GCS referrals, 248 patients were not referred to the CAUSES Study. GWS (vs. a targeted test; e.g. multi-gene panel) was more likely to be recommended to physicians of patients with ID than physicians of patients without ID (OR = 2.98; 95% CI = 1.46 to 6.27; n = 149). In total, 40% of physicians who were recommended to pursue clinical genomic testing submitted an application for funding approval; 71% of applications were approved for funding. Among approved tests, 50% resulted in a diagnosis, including 33% of targeted tests and 82% of GWS tests (χ² (1) = 5.0, p = 0.026).

Conclusion

The GCS provided an effective model in which physicians can interface with genetic specialists, including genetic counsellors, to facilitate appropriate genomic test selection.

中文翻译：

基因组检测分类中遗传咨询师的整合：加拿大不列颠哥伦比亚省基因组咨询服务的结果

目的

不列颠哥伦比亚省的临床诊断全基因组（外显子组或基因组）测序 (GWS) 需要省级机构逐案批准资金。CAUSES Clinic 是 BC 儿童医院和妇女医院的一项基于儿科转化三人组的 GWS 研究。CAUSES 诊所的转介是通过基因组咨询服务 (GCS) 进行的，这是一个由遗传顾问领导的多学科团队，为考虑为患者考虑 GWS 的医生提供有关基因组检测的建议。在这里，我们回顾了 GCS 的结果，重点关注不推荐用于 CAUSES 研究的患者。

方法

从患者图表中提取人口统计学、临床和测试数据。Logistic 回归分析用于探索人口统计学和临床变量与两个结果之间的关联：推荐类型和转诊医生遵循推荐的决定。

结果

在 972 名 GCS 转诊中，248 名患者未转诊至 CAUSES 研究。与非 ID 患者的医生相比，GWS（相对于靶向检测；例如多基因检测）更有可能被推荐给 ID 患者的医生（OR = 2.98；95% CI = 1.46 至 6.27；n = 149）。总共有 40% 被推荐进行临床基因组检测的医生提交了资金批准申请；71% 的申请获得资助。在这些被批准的测试中，50％导致了诊断，其中包括的目标测试33％和GWS测试82％（χ ²（1）= 5.0，p值= 0.026）。