Gilfillan Elzette, Araujo Monica, Kromberg Jennifer, Wessels Tina-Marie, Fourie Katryn
National Health Laboratory Services and University of the Witwatersrand, Johannesburg, South Africa.
University of the Witwatersrand, Johannesburg, South Africa.
J Genet Couns. 2025 Aug;34(4):e70097. doi: 10.1002/jgc4.70097.
Genetic counseling has evolved from focusing solely on congenital anomaly prevention to incorporating psychological counseling. Traditionally, its goal has been to enhance patient care by providing clinical information and facilitating psychological adjustment. However, with the rise of genomics and complex testing technologies, genetic counselors now engage in education, research, clinical practice, and laboratory roles. A previous study from 2013 described the role of genetic counselors in South Africa. This current study provides an updated perspective on these findings and how these roles have diversified. Registered independent genetic counselors were invited via email to complete an electronic survey adapted from the previous study conducted in 2013. The survey collected data on information pertaining to (1) demographics, (2) genetic counseling experience and employment, and (3) work/clinical practice. Data were analyzed using descriptive statistics. Of 44 contacted genetic counselors, 29 responded. Most were female (97%), under 40 years old (60%), and had practiced for less than 10 years (59%). Although many genetic counselors took on multiple responsibilitiessuch as clinical, administrative, research, and teaching-the proportion primarily working in clinical roles declined from 75% (12/16) in 2013 to 45% (10/22) in 2023. Notably, genetic counselors involved in teaching and training had significantly fewer years in practice (p = 0.0396; CI 95%), suggesting a loss of expertise in academic centers. A new trend observed since 2013 is laboratory-based responsibilities, with 68% of participants reporting duties in this area. The role of genetic counselors in South Africa has expanded substantially over the past decade, with a shift away from predominantly clinical roles. These findings highlight the need for adaptation of training programs and strategic workforce planning to retain expertise in academic centers and ensure the continued growth of the profession.
遗传咨询已从单纯关注先天性异常预防发展到纳入心理咨询。传统上，其目标是通过提供临床信息和促进心理调适来改善患者护理。然而，随着基因组学和复杂检测技术的兴起，遗传咨询师现在承担着教育、研究、临床实践和实验室等多方面的角色。2013年的一项先前研究描述了南非遗传咨询师的角色。本研究提供了关于这些发现以及这些角色如何多样化的最新观点。通过电子邮件邀请注册独立遗传咨询师完成一项基于2013年先前研究改编的电子调查问卷。该调查收集了有关以下方面的数据：（1）人口统计学，（2）遗传咨询经验和就业情况，以及（3）工作/临床实践。使用描述性统计方法对数据进行分析。在44名被联系的遗传咨询师中，29人做出了回应。大多数是女性（97%），年龄在40岁以下（60%），从业时间不到10年（59%）。尽管许多遗传咨询师承担多种职责，如临床、行政、研究和教学，但主要从事临床工作的比例从2013年的75%（12/16）下降到2023年的45%（10/22）。值得注意的是，参与教学和培训的遗传咨询师从业年限明显较少（p = 0.0396；95%置信区间），这表明学术中心的专业知识有所流失。自2013年以来观察到的一个新趋势是基于实验室的职责，68%的参与者报告了在这方面的职责。在过去十年中，南非遗传咨询师的角色大幅扩展，从主要的临床角色发生了转变。这些发现凸显了调整培训计划和进行战略劳动力规划的必要性，以保留学术中心的专业知识并确保该职业的持续发展。
