Sema4 Genomics, Stamford, Connecticut.
Birth Defects Res. 2020 Mar 1;112(4):307-315. doi: 10.1002/bdr2.1629.
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.
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。