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解码者:遗传咨询专业的历史透视。

The de-coders: A historical perspective of the genetic counseling profession.

机构信息

Sema4 Genomics, Stamford, Connecticut.

出版信息

Birth Defects Res. 2020 Mar 1;112(4):307-315. doi: 10.1002/bdr2.1629.

DOI:10.1002/bdr2.1629
PMID:32115904
Abstract

The genetic counseling profession is a relatively new medical specialty that has evolved over time in keeping with advanced in the medical genetics field. Genetic counselors are master's-level trained individuals who apply their skills to assist patients in understanding the genetic etiology of disease, assessing risk for genetic disease, and providing support to those who are encountering a genetic disorder in themselves or family member. Formal training of genetic counselors began nearly 50 years, and since then, the field has been expanding and advancing. Defining the tenets and practice of the genetic counseling profession has also similarly changed over time; however, the core guiding principles of the profession have remained rooted in the concept of patient autonomy and client-centered care. Competency in the field is achieved by successfully graduating from an accredited master's-level training program in which the curriculum is based on standards set forth by the Accreditation Council of Genetic Counseling. Curricula are developed so that trainees are exposed to didactic work, hands-on clinical fieldwork, and research so that at the end of one's training they have become competent in The Practice Based Competencies that have been established for the profession. Upon graduation, genetic counselors find themselves working in a number of professional settings and subspecialties in genetics. As the underlying genetic cause of disease has become clearer, the areas in which genetic counselors practice have expanded and allows for diverse clinical practice. The profession has, and will, continue to adapt along with the advances in molecular genetics.

摘要

遗传咨询专业是一个相对较新的医学专业,随着医学遗传学领域的不断发展而演变。遗传咨询师是经过硕士培训的专业人员,他们运用自己的技能帮助患者了解疾病的遗传病因、评估遗传疾病的风险,并为自身或家庭成员患有遗传疾病的人提供支持。遗传咨询师的正式培训始于近 50 年前,自那时以来,该领域一直在不断扩展和进步。定义遗传咨询专业的原则和实践也随着时间的推移而发生了变化;然而,该专业的核心指导原则仍然植根于患者自主权和以客户为中心的护理理念。通过成功完成经认可的硕士培训计划,遗传咨询师可以获得该领域的能力,该计划的课程基于遗传咨询认证委员会规定的标准。课程的设置使学员接触到理论学习、实践临床工作和研究,以便在培训结束时,他们能够胜任该专业建立的基于实践的能力。毕业后,遗传咨询师可以在许多专业的遗传学环境和亚专业中工作。随着疾病的遗传原因变得更加清晰,遗传咨询师的实践领域不断扩大,并允许进行多样化的临床实践。该专业已经并将继续随着分子遗传学的进步而适应。

相似文献

1
The de-coders: A historical perspective of the genetic counseling profession.解码者:遗传咨询专业的历史透视。
Birth Defects Res. 2020 Mar 1;112(4):307-315. doi: 10.1002/bdr2.1629.
2
40 years and beyond for the National Society of Genetic Counselors: Reflections on genetic counseling practice.40 年及以后:全国遗传咨询师协会的思考——遗传咨询实践。
J Genet Couns. 2020 Dec;29(6):888-893. doi: 10.1002/jgc4.1301. Epub 2020 Jul 8.
3
Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities.建立一个促进认证遗传咨询师职业发展的高级培训模型:对扩展技能、高级培训路径和职业机会的调查。
J Genet Couns. 2016 Aug;25(4):625-34. doi: 10.1007/s10897-015-9916-7. Epub 2016 Jan 7.
4
Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees.遗传咨询工作人员的变动凸显了遗传咨询学员需要实验室实地工作经验。
J Genet Couns. 2023 Dec;32(6):1194-1199. doi: 10.1002/jgc4.1817. Epub 2023 Nov 17.
5
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.2013年,遗传咨询认证委员会特别工作组对基于能力的遗传咨询实践进行回顾与更新。
J Genet Couns. 2016 Oct;25(5):868-79. doi: 10.1007/s10897-016-9984-3. Epub 2016 Jun 23.
6
Need for additional training to be a laboratory genetic counselor-A qualitative exploration.成为实验室基因咨询师所需的额外培训——一项定性探索
J Genet Couns. 2023 Dec;32(6):1249-1265. doi: 10.1002/jgc4.1746. Epub 2023 Jul 26.
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The genetic counseling profession in Austria: Stakeholders' perspectives.奥地利的遗传咨询专业:利益相关者的观点。
J Genet Couns. 2021 Jun;30(3):861-871. doi: 10.1002/jgc4.1389. Epub 2021 Apr 2.
8
Genetic counselors with advanced skills: I. Refining a model of advanced training.具有高级技能的遗传咨询师:I. 完善高级培训模式。
J Genet Couns. 2020 Oct;29(5):759-770. doi: 10.1002/jgc4.1203. Epub 2019 Dec 31.
9
Disability training in the genetic counseling curricula: bridging the gap between genetic counselors and the disability community.遗传咨询课程中的残疾培训:弥合遗传咨询师与残疾群体之间的差距。
Am J Med Genet A. 2014 Aug;164A(8):1909-15. doi: 10.1002/ajmg.a.36613. Epub 2014 May 20.
10
Report of the 1989 Asilomar meeting on education in genetic counseling.1989年阿西洛马基因咨询教育会议报告。
Am J Hum Genet. 1990 Jun;46(6):1223-30.

引用本文的文献

1
The global status of genetic counselors in 2023: What has changed in the past 5 years?2023年遗传咨询师的全球状况:过去五年有哪些变化?
Genet Med Open. 2024 Aug 8;2(Suppl 2):101887. doi: 10.1016/j.gimo.2024.101887. eCollection 2024.
2
Predicting age of onset and progression of disease in late-onset genetic neurodegenerative diseases: An ethics review and research agenda.预测晚发性遗传神经退行性疾病的发病年龄和疾病进展:伦理审查和研究议程。
Eur J Hum Genet. 2024 Nov;32(11):1361-1370. doi: 10.1038/s41431-024-01688-7. Epub 2024 Sep 24.
3
Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada.
遗传学诊所之外的遗传咨询师:鉴于加拿大各地法律认可滞后的情况,其角色、实践及伦理法律影响
J Genet Couns. 2025 Jun;34(3):e1943. doi: 10.1002/jgc4.1943. Epub 2024 Jul 1.