Walsh Chelsey, Durst Andrea L, Ortiz Damara, Miller Rachel G, Alabek Michelle
Department of Human Genetics, Graduate School of Public Health, Genetic Counseling Program, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Northwestern Medicine, Winfield, Illinois, USA.
J Genet Couns. 2025 Apr;34(2):e1953. doi: 10.1002/jgc4.1953. Epub 2024 Jul 23.
There are 10 gene therapies (GTs) for hereditary conditions that are currently approved by the Food and Drug Administration (FDA). While prior research demonstrates that the majority of healthcare providers lack knowledge regarding GTs, this has not been explored within the genetic counseling profession. The authors hypothesize that the availability of GTs impacts the genetic counseling profession and that there is variable awareness on this topic among genetic counselors (GCs). We conducted a survey to assess GCs' familiarity with, comfort with, and frequency of discussing FDA-approved GTs at the time of the survey, as well as GCs' perceived impact of and educational experiences related to GT. The survey was distributed through listservs and word of mouth from January through March 2021. One hundred of the 109 responses met eligibility criteria. Respondents were more familiar with onasemnogene abeparvovec-xioi (ZOLGENSMA; Novartis Gene Therapies, Inc., Durham, NC, USA) than voretigene neparvovec-rzyl (LUXTURNA; Spark Therapeutics, Inc., Philadelphia, PA, USA; p < 0.001). Familiarity with, comfort with, and frequency of discussing both GTs varied by specialty but not by years of experience. Fifty-nine percent of respondents (58/98) reported that GTs impact their work, with differences by specialty but not by years of experience. The majority of respondents (93%; 90/97) felt that GCs should be comfortable discussing GTs with patients, and most respondents (83%; 79/95) were interested in additional GT training. Only 38% of respondents (36/95) recalled GT being included in their genetic counseling training program's curriculum, which may be skewed by recent growth of this field. Our results suggest that GCs feel that GTs impact their practice, have discrepant awareness and comfort in this area, and desire additional training on this topic. Further investigation into the actual impact and models for addressing training is warranted and will be critical as the number of approved GTs increases.
目前有10种用于治疗遗传性疾病的基因疗法(GTs)已获得美国食品药品监督管理局(FDA)的批准。虽然先前的研究表明,大多数医疗保健提供者缺乏关于基因疗法的知识,但在遗传咨询行业中尚未对此进行探讨。作者推测,基因疗法的可用性会影响遗传咨询行业,并且遗传咨询师(GCs)对这一主题的认识存在差异。我们进行了一项调查,以评估遗传咨询师在调查时对FDA批准的基因疗法的熟悉程度、讨论时的舒适度和频率,以及遗传咨询师对基因疗法的感知影响和相关教育经历。该调查于2021年1月至3月通过邮件列表和口口相传的方式进行分发。109份回复中有100份符合资格标准。与voretigene neparvovec-rzyl(LUXTURNA;Spark Therapeutics公司,美国宾夕法尼亚州费城;p < 0.001)相比,受访者对onasemnogene abeparvovec-xioi(ZOLGENSMA;诺华基因疗法公司,美国北卡罗来纳州达勒姆)更为熟悉。对两种基因疗法的熟悉程度、讨论时的舒适度和频率因专业而异,但不因工作年限而异。59%的受访者(58/98)报告说基因疗法会影响他们的工作,因专业不同而存在差异,但不因工作年限而异。大多数受访者(93%;90/97)认为遗传咨询师应该能够自如地与患者讨论基因疗法,并且大多数受访者(83%;79/95)对额外的基因疗法培训感兴趣。只有38%的受访者(36/95)回忆起基因疗法被纳入了他们的遗传咨询培训项目的课程中,这可能受到该领域近期发展的影响而存在偏差。我们的结果表明,遗传咨询师认为基因疗法会影响他们的实践,在这一领域的认识和舒适度存在差异,并且希望获得关于这一主题的额外培训。随着获批基因疗法数量的增加,有必要对其实际影响和解决培训问题的模式进行进一步调查,这将至关重要。