Deignan Joshua L, Aggarwal Vimla, Bale Allen E, Bellissimo Daniel B, Booker Jessica K, Cao Yang, Crooks Kristy R, Deak Kristen L, Del Gaudio Daniela, Funke Birgit, Hoppman Nicole L, Horner Vanessa, Hufnagel Robert B, Jackson-Cook Colleen, Koduru Prasad, Leung Marco L, Li Shibo, Liu Pengfei, Luo Minjie, Mao Rong, Mason-Suares Heather, Mikhail Fady M, Moore Stephen R, Naeem Rizwan C, Pollard Laura M, Repnikova Elena A, Shao Lina, Shaw Brandon M, Shetty Shashirekha, Smolarek Teresa A, Spiteri Elizabeth, Van Ziffle Jessica, Vance Gail H, Vnencak-Jones Cindy L, Williams Eli S
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA.
Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
Genet Med Open. 2024;2. doi: 10.1016/j.gimo.2024.101820. Epub 2024 Feb 1.
The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has not yet been any formal evaluation of the merging of these disciplines and the challenges faced by Program Directors (PDs) tasked with ensuring the successful training of laboratory geneticists under the new model.
An electronic multi-question Qualtrics survey was created and was sent to the PD for each of the Accreditation Council for Graduate Medical Education-accredited LGG fellowship programs at the time. The data were collected, and the responses were aggregated for each question.
All of the responding PDs had started training at least 1 LGG fellow. PDs noted challenges with funding, staff shortages, molecular/cytogenetics content integration, limited total training time, increased remote work, increased sendout testing, and a lack of prior cytogenetics knowledge among incoming fellows.
This survey attempted to assess the challenges that LGG PDs have been facing in offering and integrating clinical molecular genetics and clinical cytogenetics fellowship training. Common challenges between programs were noted, and a set of 6 concluding comments are provided to facilitate future discussion.
实验室遗传学与基因组学（LGG）专业于2017年设立，旨在反映临床分子遗传学与临床细胞遗传学在技术和方法上日益趋同的情况。然而，对于这些学科的融合以及负责在新模式下确保实验室遗传学家成功培训的项目主任（PD）所面临的挑战，尚未进行任何正式评估。
创建了一份电子多问题Qualtrics调查问卷，并发送给当时每个经研究生医学教育认证委员会认证的LGG奖学金项目的PD。收集数据，并对每个问题的回答进行汇总。
所有回复的PD都已开始培训至少1名LGG学员。PD指出了资金、人员短缺、分子/细胞遗传学内容整合、总培训时间有限、远程工作增加、外部送检检测增加以及新入学学员缺乏细胞遗传学先验知识等挑战。
本次调查试图评估LGG项目主任在提供和整合临床分子遗传学与临床细胞遗传学奖学金培训方面所面临的挑战。指出了各项目之间的共同挑战，并提供了6条总结性意见以促进未来的讨论。
