Freiman Andrew, Rekab Aisha, Bergner Amanda L, Pereira Elaine M, Lin Yuhuan, Ahimaz Priyanka
Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Rare Disease Institute, Children's National Hospital, Washington, DC, USA.
Am J Med Genet A. 2024 Apr;194(4):e63502. doi: 10.1002/ajmg.a.63502. Epub 2023 Dec 15.
The increased utilization of clinical genomic sequencing in the past decade has ushered in the era of genomic medicine, requiring genetics providers to acquire new skills and adapt their practices. The change in workplace responsibilities of clinical/medical geneticists (CMGs) and genetic counselors (GCs) in North America, due to the evolution of genetic testing, has not been studied. We surveyed CMGs (n = 80) and GCs (n = 127) with experience in general/pediatric genetics to describe their current practice of clinical tasks and the change in regularity of performing these tasks over the past 5-10 years. Currently, complementarity of responsibilities between CMGs and GCs clearly exists but providers who have been in the field for longer have noted role changes. Trends indicate that fewer experienced CMGs perform physical exams and select genetic tests than before and fewer experienced GCs complete requisitions and write result letters. The frequency of CMGs and GCs who investigate genetic test results, however, has increased. This study provides insight into the changing landscape of clinical genetics practice. Our findings suggest that the roles and responsibilities of CMGs and GCs have shifted in the past decade.
在过去十年中，临床基因组测序的使用增加，迎来了基因组医学时代，这要求遗传学从业者掌握新技能并调整其实践方式。由于基因检测的发展，北美临床/医学遗传学家（CMG）和遗传咨询师（GC）工作职责的变化尚未得到研究。我们对具有普通/儿科遗传学经验的CMG（n = 80）和GC（n = 127）进行了调查，以描述他们当前的临床任务实践以及在过去5至10年中执行这些任务的频率变化。目前，CMG和GC之间的职责互补性明显存在，但从业时间较长的从业者指出了角色变化。趋势表明，与以前相比，经验丰富的CMG进行体格检查和选择基因检测的次数减少，经验丰富的GC完成申请单和撰写结果信的次数减少。然而，调查基因检测结果的CMG和GC的频率有所增加。这项研究为临床遗传学实践不断变化的格局提供了见解。我们的研究结果表明，在过去十年中，CMG和GC的角色和职责发生了转变。
