Abstract：
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.
摘要：
目前有10种基因疗法（GT）用于遗传性疾病，目前已获得食品和药物管理局（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GT的知识，遗传咨询行业尚未对此进行过探索。作者假设GTs的可用性会影响遗传咨询行业，并且遗传咨询师（GC）对此主题的认识存在差异。我们进行了一项调查，以评估GCs对，安慰,以及在调查时讨论FDA批准的GTs的频率，以及GCs对GT的感知影响和与GT相关的教育经验。该调查于2021年1月至3月通过列表服务器和口碑分发。109份答复中有100份符合资格标准。受访者更熟悉asemnogeneabeparvovec-xioi(ZOLGENSMA；诺华基因疗法，Inc.,达勒姆,NC,美国)比voreticeneneparvovovec-rzyl(LUXTURNA；火花治疗学，Inc.,费城,PA,美国；p<0.001）。熟悉,安慰,讨论这两种GT的频率因专业而异，但因多年的经验而异。59%的受访者（58/98）报告说，GT会影响他们的工作，不同的是专业，而不是多年的经验。大多数受访者（93％；90/97）认为，GCs应该与患者讨论GTs，大多数受访者（83％；79/95）对额外的GT培训感兴趣。只有38％的受访者（36/95）记得GT被包括在他们的遗传咨询培训计划的课程，这可能会被这个领域最近的增长所扭曲。我们的结果表明，GCs认为GTs影响了他们的实践，在这方面有不同的意识和舒适度，并希望对这个主题进行额外的培训。有必要对解决培训的实际影响和模型进行进一步调查，随着批准的GT数量的增加，这将是至关重要的。
