PURPOSE Robust evidence about the value of clinical genomic interventions (CGIs), such as genetic/genomic testing or clinical genetic evaluation, is limited. We obtained stakeholders' perspectives on outcomes from CGIs to help inform their value. METHODS We used an adapted Delphi expert panel process. Two anonymous survey rounds assessed the value of 44 CGI outcomes and whether a third party should pay for them, with discussion in between rounds. RESULTS Sixty-six panelists responded to the first-round survey and 60 to the second. Policy-makers/payers gave the lowest ratings for value and researchers gave the highest. Patients/consumers had the most uncertainty about value and payment by a third party. Uncertainty about value was observed when evidence of proven health benefit was lacking, potential harms outweighed benefits for reproductive outcomes, and outcomes had only personal utility for individuals or family members. Agreement about outcomes for which a third party should not pay included prevention through surgery with unproven health benefits, establishing ancestry, parental consanguinity, and paternity. CONCLUSION Research is needed to understand factors contributing to uncertainty and stakeholder differences about the value of CGI outcomes. Reaching consensus will accelerate the creation of metrics to generate the evidence needed to inform value and guide policies that promote availability, uptake, and coverage of CGIs.

中文翻译：

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利益相关者对临床遗传和基因组干预结果价值的看法。

目的 关于临床基因组干预 (CGI) 价值的有力证据，例如基因/基因组测试或临床基因评估，是有限的。我们从 CGI 获得利益相关者对结果的看法，以帮助了解他们的价值。方法 我们使用了一个经过调整的 Delphi 专家小组流程。两轮匿名调查评估了 44 个 CGI 结果的价值以及第三方是否应该为这些结果付费，并在两轮之间进行讨论。结果 66 名小组成员对第一轮调查作出回应，60 名对第二轮调查作出回应。政策制定者/支付者对价值的评价最低，研究人员的评价最高。患者/消费者对第三方的价值和支付的不确定性最大。当缺乏经证实的健康益处的证据时，观察到价值的不确定性，对生殖结果的潜在危害大于益处，结果对个人或家庭成员仅具有个人效用。关于第三方不应支付的结果的协议包括通过未经证实的健康益处的手术进行预防、确定血统、父母血缘关系和亲子关系。结论 需要研究以了解导致不确定性和利益相关者对 CGI 结果价值存在差异的因素。达成共识将加速指标的创建，以生成为价值提供信息所需的证据，并指导促进 CGI 的可用性、采用和覆盖范围的政策。关于第三方不应支付的结果的协议包括通过未经证实的健康益处的手术进行预防、确定血统、父母血缘关系和亲子关系。结论 需要研究以了解导致不确定性和利益相关者对 CGI 结果价值存在差异的因素。达成共识将加速指标的创建，以生成为价值提供信息所需的证据，并指导促进 CGI 的可用性、采用和覆盖范围的政策。关于第三方不应支付的结果的协议包括通过未经证实的健康益处的手术进行预防、确定血统、父母血缘关系和亲子关系。结论 需要研究以了解导致不确定性和利益相关者对 CGI 结果价值存在差异的因素。达成共识将加速指标的创建，以生成为价值提供信息所需的证据，并指导促进 CGI 的可用性、采用和覆盖范围的政策。