As genetic testing becomes increasingly utilized in health care, consumer awareness and understanding is critical. Both are reported to be low in Australia, though there are limited studies to date. A consumer survey assessed perceived knowledge, awareness and attitudes toward genetic medicine, prior to consumers’ genomics forums in Queensland in 2018 and 2019. Data was analyzed using t-test and Mann-Whitney U tests analysis to detect any associations between sociodemographic factors and familiarity or attitudes. This highly educated and experienced health consumer cohort reported they were significantly more familiar with the healthcare system generally than genetic medicine specifically (p < 0.0001). Consumers perceived that genetic testing would be significantly more important in the future than it is currently (p < 0.00001). Consumers agreed that genetic testing should be promoted (91.4%), made available (100%), better funded (94.2%), and offered to all pregnant women (81.6%). The preferred learning modality about genetics was internet sites (62.7%) followed by talks/presentations (30.8%). Benefits of genetic testing, reported in qualitative responses, included the potential for additional information to promote personal control and improve healthcare. Perceived concerns included ethical implications (including privacy and discrimination), and current limitations of science, knowledge and/or practice. This study demonstrates that even knowledgeable consumers have little familiarity with genetic medicine but are optimistic about its potential benefits. Ethical concerns, particularly concerns regarding genetic discrimination should inform legislation and policy. Consumers are supportive of online resources in increasing genomic literacy.

随着基因检测在医疗保健中的使用越来越广泛，消费者的认识和理解至关重要。据报道，两者在澳大利亚的发病率都很低，尽管迄今为止研究还很有限。在2018年和2019年昆士兰州的消费者基因组学论坛召开之前，一项消费者调查评估了对遗传医学的认知知识，意识和态度。对数据进行了分析，使用Ť测试和曼·惠特尼 ü测试分析以发现社会人口因素与熟悉程度或态度之间的任何关联。这项受过高等教育且经验丰富的健康消费人群报告说，他们比一般的遗传医学对医疗保健系统更为熟悉（p<0.0001）。消费者认为，基因检测在未来比现在更加重要（p<0.00001）。消费者同意应推广基因检测（91.4％），提供基因检测（100％），提供更好的资金（94.2％），并提供给所有孕妇（81.6％）。关于遗传学的首选学习方式是互联网站点（62.7％），其次是演讲/陈述（30.8％）。在定性反应中报告的基因检测的好处包括潜在的其他信息，以促进个人控制和改善医疗保健。可以理解的关注包括道德影响（包括隐私和歧视），以及当前对科学，知识和/或实践的限制。这项研究表明，即使是知识渊博的消费者，对基因医学的了解也很少，但对它的潜在利益却持乐观态度。道德问题，特别是对遗传歧视的关注应为立法和政策提供依据。消费者支持在线资源以提高基因组素养。