Gourna E G, Armstrong N, Wallace S E
Department of Health Sciences, University of Leicester, Adrian Building, Leicester, LE1 7RH, UK,
J Community Genet. 2014 Oct;5(4):383-93. doi: 10.1007/s12687-014-0194-0. Epub 2014 Jul 22.
Unprecedented progress in sequencing technologies and decreasing cost have brought genomic testing into the clinical setting. At the same time, the debate in the literature concerning the return of incidental findings (IFs) has made this an important issue internationally. These developments reflect a shift in genetics that will also affect smaller countries, such as Greece, that are just starting to implement these technologies and may look to other countries for examples of good practice. Ten in-depth interviews were conducted with Greek experts in clinical sequencing. Previous experiences and attitudes toward IFs and clinical sequencing were investigated as well as views on the existing policy regarding managing genetic information generated through testing. . Interviews were analysed using thematic analysis. All participants reported the lack of any legal or other supportive mechanism. IFs are currently managed at a "local" level, i.e. within the clinic or the laboratory in an ad hoc way. All participants thought that clinically valid and actionable IFs should be returned, but always with caution and in respect to patients' wishes, although several experts reported returning IFs according to their clinical discretion. Experts reported that most patients ask for all tests available but they felt that more counselling is needed to understand and manage genetic information. Due to the lack of any supporting mechanisms, professionals in Greece, even those with established experience in the field of genetic and genomic testing, have difficulties dealing with IFs. All experts agreed that it is now time, before the full integration of genomic testing into everyday clinical practice, for guidance to help Greek physicians work with patients and their families when IFs are discovered.
测序技术取得了前所未有的进展,成本也在不断降低,这使得基因组检测进入了临床应用。与此同时,文献中关于偶然发现(IFs)反馈的争论已使这一问题在国际上变得重要。这些发展反映了遗传学领域的转变,这也将影响像希腊这样刚刚开始应用这些技术的小国,它们可能会借鉴其他国家的良好实践范例。我们对希腊临床测序领域的专家进行了十次深度访谈。调查了他们以往对偶然发现和临床测序的经验及态度,以及对现有检测所产生遗传信息管理政策的看法。访谈采用主题分析法进行分析。所有参与者都表示缺乏任何法律或其他支持机制。目前,偶然发现是在“本地”层面进行管理的,即在诊所或实验室以临时方式处理。所有参与者都认为,具有临床有效性且可采取行动的偶然发现应该反馈给患者,但必须谨慎行事并尊重患者的意愿,不过有几位专家报告说他们是根据自己的临床判断来反馈偶然发现的。专家们报告说,大多数患者要求进行所有可用的检测,但他们觉得需要更多的咨询服务来帮助患者理解和管理遗传信息。由于缺乏任何支持机制,希腊的专业人员,即使是那些在基因和基因组检测领域有丰富经验的人员,在处理偶然发现时也存在困难。所有专家一致认为,现在是时候在基因组检测完全融入日常临床实践之前,提供指导以帮助希腊医生在发现偶然发现时与患者及其家属进行沟通了。