Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics

ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

摘要
遗传学教育是理解健康-疾病二分范畴生物学本质的基础。此外，随着流行病学特征的转变，遗传性疾病作为公共卫生议题的重要性日益凸显。因此，以伦理且审慎的方式对患者及其家属开展此类疾病的管理，并结合巴西统一卫生系统（Brazilian Unified Health System，SUS）的运作逻辑与政策要求，已成为所有医师必备的核心胜任力，对其本科医学教育产生重要影响。
鉴于该议题的重要性，巴西医学遗传学与基因组学学会（Brazilian Society of Medical Genetics and Genomics，SBGM）结合巴西医学遗传学相关公共政策，明确了针对巴西医师的遗传学胜任力要求。本文为一篇理论探讨文章，旨在结合背景阐述该学会提出的医师遗传学胜任力框架。
本文所呈现并讨论的胜任力框架基于四项核心胜任力构建：（1）认识到继续教育的必要性，定期审视自身临床胜任力，明确学习缺口以及遗传学与基因组学领域的最新进展；（2）识别已出现或可能发生遗传性疾病的个体，并知晓如何、何时将患者转诊至医学遗传学专科医师；（3）在自身执业范围内遵循既定临床指南，管理已确诊的遗传性疾病及/或出生缺陷患者；（4）推广并践行旨在预防遗传性疾病与出生缺陷的临床及教育实践。
研究明确了达成上述四项胜任力所需的知识、技能与态度。据此，本文提出一套基于胜任力的理论参考框架，以支撑医学教育阶段的遗传学教学工作。建议巴西所有医学院校均采用该遗传学核心胜任力框架，以培养能够适应当前巴西统一卫生系统（SUS）需求的合格医师。此外，该胜任力框架可助力遗传学领域的继续教育项目，提升SUS从业人员对遗传性疾病与出生缺陷的处置能力。