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首页> 外文期刊>BMC Medical Genomics >Attitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation
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Attitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation

机译：将基因组风险评估纳入人群筛查计划的态度：目的，背景和审议的重要性

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Background The use of an overall risk assessment based on genomic information is consistent with precision medicine. Despite the enthusiasm, there is a need for public engagement on the appropriate use of such emerging technologies in order to frame meaningful evaluations of utility, including the practical implementation and acceptability issues that might emerge. Doing so requires the involvement of the end users of these services, including patients, and sections of the public who are the target group for population based screening. In the present study we sought to explore public attitudes to the potential integration of personal genomic profiling within existing population screening programs; and to explore the evolution of these attitudes as part of a deliberative process. Methods We conducted a mixed methods study presented in the format of a deliberative workshop. Participants were drawn from communities in Ottawa, Ontario (ON) and St John’s, Newfoundland?and Labrador (NL), Canada. Individuals were approached to take part in a workshop on the incorporation of genomic risk profiling for either colorectal cancer screening (CRC), or newborn screening for type 1 diabetes mellitus (T1DM). Results A total of N =?148 ( N =?65 ON, N =?83 NL) participants provided data for analysis. Participants in both groups were supportive of public funding for genomic risk profiling, although participants in the T1DM groups expressed more guarded positive attitudes than participants in the CRC groups. These views were stable throughout the workshop (CRC, p =?0.15, T1DM, p =0.39). Participants were less positive about individual testing, with a significant decrease in support over the course of the workshop (CRC p =?0.02, T1DM, p =?0.003). Common concerns related to access to test results by third parties. Conclusions The findings of this study suggest that members of the target populations for potential genomic profiling tests (designed for screening or risk prediction purposes) can engage in meaningful deliberation about their general acceptability and personal utility. Evaluations of whether a test would be personally useful may depend on the experience of the participants in personal health decision making, the purpose of the test, and the availability of interventions to reduce disease risk.
机译：背景技术基于基因组信息的总体风险评估与精密医学一致。尽管有热情，但仍需要公众参与适当使用这种新兴技术，以便对实用性进行有意义的评估，包括可能出现的实际实施和可接受性问题。这样做需要这些服务的最终用户的参与，包括患者以及作为基于人群的筛查目标群体的公众群体。在本研究中，我们试图探索公众对现有人群筛查计划中个人基因组图谱分析潜在整合的态度;并在审议过程中探讨这些态度的演变。方法我们以协商研讨会的形式进行了混合方法研究。参与者来自安大略省渥太华（ON）和纽芬兰的圣约翰（St John's）和加拿大的拉布拉多（NL）。有人被邀请参加关于将基因组风险分析纳入大肠癌筛查（CRC）或新生儿筛查1型糖尿病（T1DM）的研讨会。结果共有N =？148（N =？65 ON，N =？83 NL）参与者提供了用于分析的数据。尽管T1DM组的参与者比CRC组的参与者表达了更多的警惕的积极态度，但两组的参与者都支持公共资金进行基因组风险分析。这些观点在整个研讨会期间都是稳定的（CRC，p =？0.15，T1DM，p = 0.39）。参与者对单个测试的认可度较低，在研讨会期间，支持率显着下降（CRC p = 0.02，T1DM，p = 0.003）。常见问题与第三方获取测试结果有关。结论该研究的结果表明，用于潜在基因组分析测试（旨在用于筛查或风险预测目的）的目标人群的成员可以就其一般可接受性和个人用途进行有意义的讨论。对测试是否对个人有用的评估可能取决于参与者在个人健康决策中的经验，测试的目的以及减少疾病风险的干预措施的可用性。

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