Ranson David, Allison Camille O, Wetherill Leah, Delk Paula R, Stone Kristyne
Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, USA.
J Genet Couns. 2025 Apr;34(2):e2015. doi: 10.1002/jgc4.2015.
Genetic counselors (GCs) play a crucial role in the healthcare system, providing education, support and guidance regarding genetic risk assessment, testing and results interpretation. To help GCs practice at the highest level of their expertise, the role of the genetic counseling assistant (GCA) was introduced, focusing on tasks like administrative support and patient care coordination. Although GCs typically handle the disclosure of test results, there is limited research on the delegation of results disclosure to GCAs. This study explores GCs' perspectives on delegating negative and variant of uncertain significance (VUS) genetic test results disclosures to GCAs. A quantitative survey was conducted among GCs practicing in the United States and Canada. Results revealed that while the majority of GCs were willing to delegate both negative and VUS results, few currently do so. Oncology GCs exhibited greater willingness and actual delegation of VUS disclosures relative to other specialties. Effective communication skills, level of genetics knowledge, and willingness to seek help were identified as the most influential attributes on GCs' confidence in GCAs' abilities to disclose test results. The most frequent concern about GCAs disclosing negative and VUS results was remaining suspicion for an underlying genetic etiology. Additionally, GCs were concerned about delegating VUS disclosures since patients more frequently struggle to understand those results. A triaging system to determine suitable results for a GCA to disclose and extensive shadowing of GCs disclosing results were proposed as methods of building GCs' confidence in the ability of a GCA to disclose test results. Ultimately, a better understanding of the discrepancy between GCs' willingness to delegate results disclosures and actual delegation practices is essential if the GCA scope of practice were to include results disclosure.
遗传咨询师(GCs)在医疗保健系统中发挥着至关重要的作用,在遗传风险评估、检测及结果解读方面提供教育、支持和指导。为帮助遗传咨询师以其最高专业水平开展工作,引入了遗传咨询助理(GCA)这一角色,其工作重点是行政支持和患者护理协调等任务。尽管遗传咨询师通常负责检测结果的披露,但关于将结果披露工作委托给遗传咨询助理的研究却很有限。本研究探讨了遗传咨询师对于将阴性和意义不明确的变异(VUS)基因检测结果披露工作委托给遗传咨询助理的看法。在美国和加拿大执业的遗传咨询师中进行了一项定量调查。结果显示,虽然大多数遗传咨询师愿意委托披露阴性和VUS结果,但目前很少有人这样做。与其他专业领域相比,肿瘤学遗传咨询师在VUS结果披露方面表现出更大的意愿和实际委托行为。有效的沟通技巧、遗传学知识水平以及寻求帮助的意愿被确定为对遗传咨询师对遗传咨询助理披露检测结果能力的信心影响最大的因素。对于遗传咨询助理披露阴性和VUS结果,最常见的担忧是对潜在遗传病因仍存怀疑。此外,遗传咨询师对委托披露VUS结果有所顾虑,因为患者更难理解这些结果。提出了一个分诊系统,以确定适合遗传咨询助理披露的结果,并对遗传咨询师披露结果进行广泛的跟班学习,以此作为增强遗传咨询师对遗传咨询助理披露检测结果能力信心的方法。最终,如果遗传咨询助理的执业范围要包括结果披露,那么更好地理解遗传咨询师在委托结果披露意愿和实际委托行为之间的差异至关重要。