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本文引用的文献

1
How the other half screens: A model for partnerships between student-run free clinics and genetic counseling programs to address disparities in hereditary cancer evaluation.另一半如何筛查:学生运营的免费诊所与遗传咨询项目之间建立伙伴关系以解决遗传性癌症评估差异的模式。
J Genet Couns. 2024 Dec;33(6):1136-1144. doi: 10.1002/jgc4.1835. Epub 2023 Nov 13.
2
Advancing the Quintuple Aim for Health Care Improvement Through the Integration of Genetic Counselors into Primary Care.通过将遗传咨询师纳入初级保健来推进医疗保健改善的“五重目标”
Am J Med. 2023 Dec;136(12):1136-1138. doi: 10.1016/j.amjmed.2023.08.017. Epub 2023 Sep 10.
3
A Genetic Counselor's Reflections on Lessons Learned, Challenges, and Successes Experienced during a One-Year Pilot Integration in a Primary Care Clinic.一名遗传咨询师在基层医疗诊所进行为期一年的试点整合过程中总结的经验教训、面临的挑战和取得的成功的反思。
Public Health Genomics. 2023;26(1):58-67. doi: 10.1159/000530683. Epub 2023 Jun 12.
4
The stepwise process of integrating a genetic counsellor into primary care.将遗传咨询师纳入初级保健的逐步过程。
Eur J Hum Genet. 2022 Jul;30(7):772-781. doi: 10.1038/s41431-022-01040-x. Epub 2022 Jan 31.
5
A Multidisciplinary Precision Medicine Service in Primary Care.基层医疗中的多学科精准医疗服务
Ann Fam Med. 2022 Jan-Feb;20(1):88. doi: 10.1370/afm.2764.
6
Challenges and Errors in Genetic Testing: The Fifth Case Series.遗传检测中的挑战和错误:第五个病例系列。
Cancer J. 2021;27(6):417-422. doi: 10.1097/PPO.0000000000000553.
7
How practice setting affects family physicians' views on genetic screening: a qualitative study.实践环境如何影响家庭医生对基因筛查的看法:一项定性研究。
BMC Fam Pract. 2021 Jul 1;22(1):141. doi: 10.1186/s12875-021-01492-y.
8
Precision Population Medicine in Primary Care: The Sanford Chip Experience.基层医疗中的精准人群医学:桑福德芯片项目经验
Front Genet. 2021 Mar 12;12:626845. doi: 10.3389/fgene.2021.626845. eCollection 2021.
9
Interpretation and management of genetic test results by Canadian family physicians: a multiple choice survey of performance.加拿大家庭医生对基因检测结果的解读与管理:一项关于表现的多项选择调查
J Community Genet. 2021 Jul;12(3):479-484. doi: 10.1007/s12687-021-00511-w. Epub 2021 Feb 22.
10
Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review.在服务不足人群中整合医学遗传学与初级保健的障碍和策略:一项范围综述
J Community Genet. 2021 Jul;12(3):291-309. doi: 10.1007/s12687-021-00508-5. Epub 2021 Feb 1.

通过将遗传咨询师纳入多学科护理团队来扩大初级保健劳动力队伍。

Expanding the primary care workforce by integrating genetic counselors in multidisciplinary care teams.

作者信息

Vanneste Rachel, Bauer Sasha A, Borle Kennedy, Dreikorn Erika

机构信息

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK S7N 0W8, Canada.

Department of Medical Oncology, UW Health Northern Illinois, Rockford, IL 61114, United States.

出版信息

Fam Pract. 2025 Feb 7;42(2). doi: 10.1093/fampra/cmae057.

DOI:10.1093/fampra/cmae057
PMID:39441176
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11809246/
Abstract

Collectively, rare diseases are common, affecting approximately 8% of the population in Canada and the USA. Therefore, the majority of primary care (PC) clinicians will care for patients who are affected or at risk for a genetic disease. Considering the increasing ways in which genetics is being implemented into all areas of healthcare, one way to address these needs and expand the capacity of the PC workforce is through the integration of genetic counselors (GCs) into PC multidisciplinary teams. GCs are Masters-educated allied health professionals with specialized training in molecular genetics, communication, and short-term psychotherapeutic counseling. The current models of GCs in PC mimic other multidisciplinary models. Complex tasks related to genetics, such as pre- and post-test counseling, genetic test selection, and results interpretation, are conducted by GCs, which, in turn, allows physicians, nurse practitioners, and other PC providers to work at the top of their scope of practice. Quality genetics services provided by GCs improve clinical outcomes for patients and their families; the simultaneous provision of genetic education and psychological support by a GC is associated with an increase in patient knowledge, perceived personal control, decrease in distress, and can lead to positive health behavior changes, all of which are aligned with the goals of primary healthcare. With their extensive training in clinical care, medical communication, and psychotherapeutic counseling, integrating GCs into PC care teams will improve the care patients receive and allow PC clinicians to ensure their patients are at the forefront of the personalized medicine revolution.

摘要

总体而言,罕见病很常见,影响了加拿大和美国约8%的人口。因此,大多数初级保健(PC)临床医生会照顾患有遗传疾病或有遗传疾病风险的患者。考虑到遗传学在医疗保健各个领域的应用方式不断增加,满足这些需求并扩大PC医疗队伍能力的一种方法是将遗传咨询师(GCs)纳入PC多学科团队。GCs是拥有硕士学位的专职医疗专业人员,在分子遗传学、沟通和短期心理治疗咨询方面接受过专业培训。PC中GCs的当前模式模仿了其他多学科模式。与遗传学相关的复杂任务,如检测前和检测后咨询、基因检测选择和结果解释,由GCs进行,这反过来又使医生、执业护士和其他PC提供者能够在其执业范围内最大限度地发挥作用。GCs提供的高质量遗传学服务改善了患者及其家庭的临床结局;GC同时提供遗传教育和心理支持与患者知识增加、自我控制感增强、痛苦减轻相关,并可导致积极的健康行为改变,所有这些都与初级医疗保健的目标一致。凭借其在临床护理、医学沟通和心理治疗咨询方面的广泛培训,将GCs纳入PC护理团队将改善患者接受的护理,并使PC临床医生能够确保其患者处于个性化医疗革命的前沿。