欧洲临床遗传学家对直接面向消费者的基因检测的认知、经验和态度的调查。
Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing.
机构信息
INSERM, UMR 1027, Epidemiology and Public Health, Faculté de médecine Purpan, Université Paul Sabatier, 37 allées Jules Guesde, 31000, Toulouse, France.
Department of Public Health and Primary Care, KU Leuven, Kapucijnenvoer 35 Box 7001, 3000 Leuven, Belgium.
出版信息
Genome Med. 2013 May 22;5(5):45. doi: 10.1186/gm449. eCollection 2013.
BACKGROUND
The advent of direct-to-consumer (DTC) genetic testing (GT) has sparked a number of debates regarding the scientific validity of tests, their broad health and ethical implications for society as well as their legal status. To date, relatively few empirical studies have been published regarding this phenomenon. We conducted a survey of European clinical geneticists to gauge their awareness of, experiences with, and attitudes towards DTC GT.
METHODS
We invited 300 clinical geneticists from 28 European countries to complete an online questionnaire. Statistical analyses of closed-ended questions were performed using the STATISTICA software package. Answers to open-ended questions were analysed for recurring themes.
RESULTS
One hundred and thirty-one clinical geneticists answered our survey (response rate, 44%). Eighty-six percent (110/128) of respondents were aware of DTC GT, and over one-third had been contacted by at least one patient regarding these services. The majority (84%) of respondents did not agree with telephone medical supervision outside of an established doctor-patient relationship. The majority of clinical geneticists also found it unacceptable to provide non-face-to-face medical supervision for: (i) a presymptomatic test for a condition with very high penetrance; (ii) a predictive test for a condition that has a 'medium' penetrance of 50% to 60%; and (iii) carrier testing. For conditions that are neither treatable nor preventable and for disorders with serious health consequences, clinical geneticists were almost unanimous in expressing the unacceptability of offering such genetic tests outside of the traditional healthcare setting, without an established physician-patient relationship and without face-to-face medical supervision.
CONCLUSION
A high percentage of European clinical geneticists are aware of DTC GT and the majority do not agree with the model of provision used by many commercial companies for certain severe or actionable health conditions. Despite this disagreement with the DTC model of provision, >85% of respondents said that they would offer genetic counselling to patients who asked for a consultation after having undergone DTC genetic testing. The understanding of the views and opinions of this expert stakeholder group should be considered in the attempts to shape responsible policy and guidelines for these services.
背景
直接面向消费者（DTC）基因检测（GT）的出现引发了许多关于测试的科学有效性、对社会的广泛健康和伦理影响以及其法律地位的争论。迄今为止，关于这一现象的实证研究相对较少。我们对欧洲临床遗传学家进行了调查，以了解他们对 DTC GT 的认识、经验和态度。
方法
我们邀请了来自 28 个欧洲国家的 300 名临床遗传学家填写在线问卷。使用 STATISTICA 软件包对封闭式问题进行了统计分析。对开放式问题的回答进行了主题分析。
结果
131 名临床遗传学家回答了我们的调查（回复率为 44%）。86%（110/128）的受访者知道 DTC GT，并且有超过三分之一的受访者至少接到过一次关于这些服务的患者咨询。大多数（84%）的受访者不同意在没有建立医患关系的情况下进行电话医疗监督。大多数临床遗传学家还认为，以下情况不接受非面对面的医疗监督：（i）针对高外显率疾病的预测性测试；（ii）针对外显率为 50%至 60%的“中等”疾病的预测性测试；（iii）携带者测试。对于既不能治疗也不能预防的疾病，以及对健康有严重后果的疾病，临床遗传学家几乎一致表示，在没有传统医疗保健环境、没有建立医患关系和没有面对面医疗监督的情况下，不接受提供此类基因测试。
结论
相当一部分欧洲临床遗传学家了解 DTC GT，并且大多数人不同意许多商业公司提供某些严重或可治疗健康状况的模式。尽管不同意 DTC 提供模式，但超过 85%的受访者表示，如果患者在进行 DTC 基因检测后要求咨询，他们将提供基因咨询。在尝试为这些服务制定负责任的政策和准则时，应考虑到这一专家利益相关者群体的意见和看法。
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