Abstract：
Pakistan has a high rate of genetic disorders and neonatal mortality concurrent with noted lack of genetic counselors and geneticists. To meet the needs of the patient population, the responsibility of providing clinical genetic services falls on general and specialty physicians. However, their education regarding these essential services is not standardized in medical school curricula nor has it ever been evaluated. The purpose of this work is to describe the self-perceived knowledge, clinical comfort, and perspectives of Pakistani medical students toward their medical genetics\' education. A web-based survey was distributed electronically to medical schools around the country. The survey comprised of four sections: (1) participant demographics, (2) self-perceived medical genetics knowledge, (3) level of comfort in applying genetic knowledge and skills, and (4) attitudes toward medical genetics education. Descriptive statistics and a one-way analysis of variance were used for data analysis. Medical students in years 3, 4, and 5 (n = 473) from 25 medical schools participated in this research representing medical education in four Pakistani provinces. Most medical students reported \"minimal\" to \"basic\" knowledge of genetic testing methodology (64.7%), cancer genetics (64.9%), prenatal genetic testing (63.02%), and treatment strategies for genetic disease (72.9%). A plurality of students (37%) reported they were uncomfortable with interpreting and communicating genetic test results to patients. Medical students also expressed dissatisfaction with their medical genetics (40%) and genetic counselors training (42%). The self-perceived knowledge and clinical comfort with genetics among Pakistani medical students was limited, especially regarding genetic testing. A significant portion (74.5%) expressed desire for additional genetics education during medical school to aid in their role as future physicians. It is important for physicians-in-training to have a solid understanding of genetic concepts, technologies, and genetic counseling to best support their patients. As endorsed by the participating medical students, this study supports inclusion of more robust genetics\' education into Pakistan\'s medical school curricula.
摘要：
巴基斯坦的遗传疾病和新生儿死亡率很高，同时缺乏遗传和遗传学家。为了满足患者群体的需求，提供临床遗传服务的责任落在普通和专科医师身上。然而,他们关于这些基本服务的教育在医学院课程中没有标准化，也从未进行过评估。这项工作的目的是描述自我感知的知识，临床舒适度,巴基斯坦医学生对医学遗传学教育的看法。一项基于网络的调查以电子方式分发给全国各地的医学院。调查包括四个部分：(1)参与者人口统计，（2）自我感知的医学遗传学知识，(3)应用遗传知识和技能的舒适度，(4)对医学遗传学教育的态度。描述性统计和单向方差分析用于数据分析。来自25所医学院的3、4和5年级（n=473）的医学生参加了这项研究，代表了巴基斯坦四个省的医学教育。大多数医学生报告“最低”到“基本”的基因检测方法学知识（64.7%），癌症遗传学（64.9%），产前基因检测(63.02%)，和遗传性疾病的治疗策略（72.9%）。许多学生（37％）报告说，他们对解释和向患者传达基因测试结果感到不舒服。医学生也对他们的医学遗传学（40％）和遗传训练（42％）表示不满。巴基斯坦医学生对遗传学的自我感知知识和临床舒适度有限，特别是关于基因检测。很大一部分（74.5％）表示希望在医学院期间进行更多的遗传学教育，以帮助他们成为未来的医生。对于接受培训的医生来说，对遗传概念有扎实的理解是很重要的，技术,和遗传来最好地支持他们的病人。作为参与医学生的认可，这项研究支持将更强大的遗传学教育纳入巴基斯坦医学院课程。
