Determining the value of genomic tests in rare disease necessitates a broader conceptualization of genomic utility beyond diagnostic yield. Despite widespread discussion, consensus toward which aspects of value to consider is lacking. This study aimed to use expert opinion to identify and refine priority indicators of utility in rare disease genomic testing. We used 2 survey rounds following Delphi methodology to obtain consensus on indicators of utility among experts involved in policy, clinical, research, and consumer advocacy leadership in Australia. We analyzed quantitative and qualitative data to identify, define, and determine priority indicators. Twenty-five experts completed round 1 and 18 completed both rounds. Twenty indicators reached consensus as a priority in value assessment, including those relating to prognostic information, timeliness of results, practical and health care outcomes, clinical accreditation, and diagnostic yield. Whereas indicators pertaining to discovery research, disutility, and factors secondary to primary reason for testing were considered less of a priority and were removed. This study obtained expert consensus on different utility indicators that are considered a priority in determining the value of genomic testing in rare disease in Australia. Indicators may inform a standardized approach to evidence generation and assessment to guide future research, decision making, and implementation efforts.

中文翻译：

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确定罕见疾病基因组检测实用的优先指标：德尔菲研究

确定基因组测试在罕见疾病中的价值需要对基因组效用进行更广泛的概念化，而不仅仅是诊断率。尽管进行了广泛的讨论，但对于应考虑哪些价值方面仍缺乏共识。本研究旨在利用专家意见来确定和完善罕见疾病基因组测试中实用的优先指标。我们按照德尔菲法进行了两轮调查，以在澳大利亚参与政策、临床、研究和消费者倡导领导力的专家中就效用指标达成共识。我们分析了定量和定性数据，以识别、定义和确定优先指标。 25 名专家完成了第一轮，18 名专家完成了两轮。二十项指标达成共识，作为价值评估的优先事项，包括与预后信息、结果的及时性、实际和医疗保健结果、临床认证和诊断率相关的指标。然而，与发现研究相关的指标、负效用以及次要测试原因的因素被认为不太重要并被删除。这项研究就不同的效用指标获得了专家共识，这些指标被认为是确定澳大利亚罕见病基因组检测价值的优先事项。指标可以为证据生成和评估的标准化方法提供信息，以指导未来的研究、决策和实施工作。