Payne Katherine, Nicholls Stuart, McAllister Marion, Macleod Rhona, Donnai Dian, Davies Linda M
Nowgen, The North West Genetics Knowledge Park, Manchester, UK.
Value Health. 2008 May-Jun;11(3):497-508. doi: 10.1111/j.1524-4733.2007.00259.x.
This systematic review aimed to inform researchers and policymakers about what validated outcome measures are available to evaluate clinical genetics services (CGS) and the need for new measures.
Validated outcome measures used to evaluate CGS were identified from a systematic literature review. Subjective outcome measures were assumed to have been validated only if some form of psychometric assessment was reported.
A total of 1688 titles and abstracts were identified, and 61 articles met the inclusion criteria for the final review, which covered 67 validated outcome measures. There were 37 nongenetics-specific and 30 genetics-specific measures identified. No single validated outcome measure encompassed all potential patient benefits from using a CGS. A variety of different domains were identified, including anxiety and depression, coping, decision-making, distress, family environment, health status, knowledge, mood, perception of risk, perceived personal control, psychological impact, quality of life, satisfaction and expectations, self-esteem, spiritual well-being, and worry. Some important aspects of patient benefit from CGS are not covered by existing outcome measures.
New research is necessary to develop the array of outcome measures required to quantify the benefits CGS offer patients living with the effects of genetic conditions. These need to be suitable for use in prospective evaluation studies to provide robust evidence for decision-makers to inform service development and commissioning. This includes prioritization of the existing validated outcome measures in terms of their usefulness and relevance to the measurement and valuation of patient benefits from a CGS.
本系统评价旨在让研究人员和政策制定者了解有哪些经过验证的结局指标可用于评估临床遗传学服务（CGS）以及对新指标的需求。
通过系统文献综述确定用于评估CGS的经过验证的结局指标。仅当报告了某种形式的心理测量评估时，主观结局指标才被视为经过验证。
共识别出1688篇标题和摘要，61篇文章符合最终综述的纳入标准，涵盖67个经过验证的结局指标。其中有37个非遗传学特异性指标和30个遗传学特异性指标。没有单一的经过验证的结局指标涵盖使用CGS给患者带来的所有潜在益处。确定了各种不同的领域，包括焦虑和抑郁、应对、决策、痛苦、家庭环境、健康状况、知识、情绪、风险认知、感知的个人控制、心理影响、生活质量、满意度和期望、自尊、精神健康以及担忧。现有结局指标未涵盖患者从CGS中获益的一些重要方面。
有必要开展新的研究，以开发一系列结局指标来量化CGS给受遗传疾病影响的患者带来的益处。这些指标需要适用于前瞻性评估研究，为决策者提供有力证据，以指导服务的发展和委托。这包括根据现有经过验证的结局指标对衡量和评估患者从CGS中获益的有用性和相关性进行优先排序。
