加拿大医学遗传学家学院:临床实践咨询文件--重新联系重新解释临床基因检测的责任。

IF 3.5 2区 医学 Q2 GENETICS & HEREDITY
Elaine Suk-Ying Goh, Lauren Chad, Julie Richer, Yvonne Bombard, Chloe Mighton, Ron Agatep, Melanie Lacaria, Blaine Penny, Mary Ann Thomas, Ma'n H Zawati, Julie MacFarlane, Anne-Marie Laberge, Tanya N Nelson
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引用次数: 0

摘要

背景:技术和知识的进步促进了患者变异报告和变异重新分类数量的增加。虽然目前没有义务对重新分类的基因变异进行重新联系,但可能有责任进行重新联系。本临床实践建议文件旨在为医疗从业人员重新联系先前已鉴定和分类的变异体提供指导,建议重新联系的方法,以及考虑患者安全、可行性、伦理因素、医疗服务能力和资源限制等因素的原则。目标受众是要求进行基因检测、跟踪已接受基因检测的患者以及分析和报告基因检测结果的从业人员:一个由实验室和下单临床医生、患者代表、伦理和法律研究人员以及加拿大遗传咨询师协会的一名遗传咨询师组成的多学科小组审查了现有文献和关于临床情况下重新接触责任的指南,并提出了建议。加拿大医学遗传学家学院(CCMG)的教育、伦理和公共政策委员会、临床实践和实验室实践委员会以及全体成员都对该研究发表了意见:在采纳了反馈意见、加拿大遗传咨询师协会(Canadian Association of Genetic Counsellors)和患者团体的外部审查之后,该文件获得了加拿大医学遗传学家学会董事会的批准。CCMG 是加拿大的一个组织,负责对提供医学遗传学服务的实验室和医学遗传学家进行认证,并为加拿大的临床遗传学服务制定专业和伦理标准:该文件描述了伦理和实际因素,并建议患者、开具处方的临床医生和实验室从业人员共同承担责任。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

Background: Advances in technology and knowledge have facilitated both an increase in the number of patient variants reported and variants reclassified. While there is currently no duty to recontact for reclassified genetic variants, there may be a responsibility. The purpose of this clinical practice advisory document is to provide healthcare practitioners guidance for recontact of previously identified and classified variants, suggest methods for recontact, and principles to consider, taking account patient safety, feasibility, ethical considerations, health service capacity and resource constraints. The target audience are practitioners who order genetic testing, follow patients who have undergone genetic testing and those analysing and reporting genetic testing.

Methods: A multidisciplinary group of laboratory and ordering clinicians, patient representatives, ethics and legal researchers and a genetic counsellor from the Canadian Association of Genetic Counsellors reviewed the existing literature and guidelines on responsibility to recontact in a clinical context to make recommendations. Comments were collected from the Canadian College of Medical Geneticists (CCMG) Education, Ethics, and Public Policy, Clinical Practice and Laboratory Practice committees, and the membership at large.

Results: Following incorporation of feedback, and external review by the Canadian Association of Genetic Counsellors and patient groups, the document was approved by the CCMG Board of Directors. The CCMG is the Canadian organisation responsible for certifying laboratory and medical geneticists who provide medical genetics services, and for establishing professional and ethical standards for clinical genetics services in Canada.

Conclusion: The document describes the ethical and practical factors and suggests a shared responsibility between patients, ordering clinician and laboratory practitioners.

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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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