Beyond a narrow focus on cost and outcomes, robust evidence of what is valued in genomic medicine is scarce. We gathered views on value from key stakeholders (clinical genomic staff, operational genomic staff and community representatives) in relation to three testing contexts (General Healthcare, Acute Care and Neurodevelopmental Conditions). We conducted an iterative focus group in three stages over a week using a multiphase mixed methods study, i.e. quantitative ratings and qualitative discussion. For each testing context, the characteristics of genomic testing were generated and ranked by the group using a co-productive approach. Up to 17 characteristics were identified in one scenario with several characteristics featuring in all three testing contexts. The likelihood of getting an answer was consistently reported as most highly valued, followed by the potential for the test to impact on clinical management (or wellbeing/health for Neurodevelopmental Conditions). Risk of discrimination did not feature highly across the different settings (and not at all in Acute Care). While cost was an issue in the general health setting, it was one of the least-valued characteristics in the other two testing contexts. In conclusion, co-producing an understanding of what is valued in different testing contexts, and identifying the areas of differences or commonalities, is important to maximise value provision and inform future policy to ensure that clinical genomic services meet the needs of the community and service providers.

中文翻译：

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临床基因组测试：对关键利益相关者有什么重要影响？

除了对成本和结果的狭narrow关注外，还缺乏关于基因组医学价值的有力证据。我们从主要利益相关者（临床基因组人员，运营基因组人员和社区代表）收集的关于三种测试环境（一般医疗保健，急性护理和神经发育状况）的价值观点。我们使用多阶段混合方法研究（即定量评分和定性讨论）在一个星期中的三个阶段中进行了一次迭代焦点小组讨论。对于每个测试环境，该组均使用共同生产的方法生成了基因组测试的特征并对其进行了排名。在一种情况下，最多可以识别17个特征，而在所有三个测试环境中都具有几个特征。始终认为获得答案的可能性是最有价值的，其次是该测试可能影响临床管理（或神经发育状况的健康/健康）的潜力。在不同情况下，歧视风险的重要性不高（在急性护理中根本没有）。尽管成本是一般健康状况中的一个问题，但它是其他两个测试环境中价值最低的特征之一。总之，共同形成对不同测试环境中价值的理解，并确定差异或共同点的领域，对于最大程度地提高价值提供并告知未来政策以确保临床基因组服务满足社区和服务的需求非常重要。提供者。在不同情况下，歧视风险的重要性不高（在急性护理中根本没有）。尽管成本是一般健康状况中的一个问题，但它是其他两个测试环境中价值最低的特征之一。总之，共同形成对不同测试环境中价值的理解，并确定差异或共同点的领域，对于最大程度地提高价值提供并告知未来政策以确保临床基因组服务满足社区和服务的需求非常重要。提供者。在不同情况下，歧视风险的重要性不高（在急性护理中根本没有）。尽管成本是一般健康状况中的一个问题，但它是其他两个测试环境中价值最低的特征之一。总之，共同形成对不同测试环境中价值的理解，并确定差异或共同点的领域，对于最大程度地提高价值提供并告知未来政策以确保临床基因组服务满足社区和服务的需求非常重要。提供者。