Goldsmith Lesley, Jackson Leigh, O'Connor Anita, Skirton Heather
Faculty of Health, Education and Society, School of Nursing and Midwifery, Plymouth University, Room 300, Hepworth House, Drake Circus, Plymouth, PL4 8AA, UK,
J Community Genet. 2013 Apr;4(2):169-80. doi: 10.1007/s12687-012-0135-8. Epub 2013 Jan 16.
Since the 1990s, there has been a rapid expansion in the number and type of genetic tests available via health professionals; the last 10 years, however, have seen certain types of genetic and genomic tests available direct-to-consumer. The aim of this systematic review was to explore the topic of direct-to-consumer genetic testing from the health professional perspective. Search terms used to identify studies were 'direct-to-consumer', personal genom*, health* professional*, physician* 'genomic, genetic' in five bibliographic databases, together with citation searching. Eight quantitative papers were reviewed. Findings indicate a low level of awareness and experience of direct-to-consumer testing in health professionals. Inconsistent levels of knowledge and understanding were also found with two studies showing significant effects for gender and age. Concerns about clinical utility and lack of counselling were identified. Health professionals specialising in genetics were most likely to express concerns. There was also evidence of perceived increased workload for health professionals post-testing. However, some health professionals rated such tests clinically useful and cited benefits such as the increased opportunity for early screening. Despite limited awareness, knowledge and experience of actual cases, we concluded that the concerns and potential benefits expressed may be warranted. It may be useful to explore the attitudes and experiences of health professionals in more depth using a qualitative approach. Finally, it is essential that health professionals receive sufficient education and guidelines to equip them to help patients presenting with the results of these tests.
自20世纪90年代以来，通过医疗专业人员提供的基因检测数量和类型迅速增加；然而，在过去10年中，某些类型的基因和基因组检测已直接面向消费者。本系统评价的目的是从医疗专业人员的角度探讨直接面向消费者的基因检测这一主题。用于识别研究的检索词为“直接面向消费者”、“个人基因组*”、“健康专业人员”、 “医生*”、“基因组、基因”，在五个书目数据库中进行检索，并进行引文检索。共审查了八篇定量研究论文。研究结果表明，医疗专业人员对直接面向消费者的检测的知晓程度和经验水平较低。还发现知识和理解水平不一致，两项研究表明性别和年龄有显著影响。确定了对临床实用性和缺乏咨询的担忧。专门从事遗传学的医疗专业人员最有可能表达担忧。也有证据表明，医疗专业人员在检测后感觉工作量增加。然而，一些医疗专业人员认为此类检测在临床上有用，并列举了诸如增加早期筛查机会等好处。尽管对实际案例的认识、知识和经验有限，但我们得出结论，所表达的担忧和潜在好处可能是有道理的。采用定性方法更深入地探讨医疗专业人员的态度和经验可能会有所帮助。最后，至关重要的是，医疗专业人员应接受足够的教育并获得指导方针，以使他们有能力帮助那些带来这些检测结果的患者。
