McAllister M, Dearing A
Institute of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Clin Genet. 2015 Aug;88(2):114-21. doi: 10.1111/cge.12520. Epub 2014 Dec 11.
Evaluation of clinical genetics services (CGS), including genetic counseling and genetic testing, has been problematic. Patient mortality and morbidity are unlikely to be directly improved by interventions offered in CGS. Patient-reported outcomes (PROs) are not routinely measured in CGS evaluation, but this may change as patient-reported outcome measures (PROMs) become a key part of how healthcare services are managed and funded across the world. However, there is no clear consensus about which PROMs are most useful for CGS evaluation. This review summarizes the published research on how PROs from CGS have been measured and how patients may benefit from using those services, with a focus on patient empowerment. Many patient benefits (PROs) identified repeatedly in the research literature can be re-interpreted within a patient empowerment framework. Other important PROs identified include family functioning, social functioning, altruism, sense of purpose, enabling development of future research and treatment/participating in research. Well-validated measures are available to capture (dimensions of) patient empowerment. Although generic measures of family functioning are available, suitable measures capturing social functioning, development of future treatments, and altruism were not identified in this review. Patient empowerment provides one useful approach to measuring PROs from CGS.
对临床遗传学服务（CGS）的评估一直存在问题，其中包括遗传咨询和基因检测。CGS所提供的干预措施不太可能直接改善患者的死亡率和发病率。在CGS评估中，患者报告结局（PROs）并未得到常规测量，但随着患者报告结局测量指标（PROMs）成为全球医疗服务管理和资金投入方式的关键部分，这种情况可能会改变。然而，对于哪些PROMs对CGS评估最有用，目前尚无明确共识。本综述总结了已发表的关于如何测量CGS中的PROs以及患者如何从使用这些服务中获益的研究，重点关注患者赋权。在研究文献中反复确定的许多患者获益（PROs）可以在患者赋权框架内重新解读。确定的其他重要PROs包括家庭功能、社会功能、利他主义、目标感、促进未来研究和治疗的发展/参与研究。有经过充分验证的措施可用于衡量（患者赋权的各个维度）。虽然有通用的家庭功能测量方法，但在本综述中未找到适用于测量社会功能、未来治疗发展和利他主义的合适方法。患者赋权为衡量CGS中的PROs提供了一种有用的方法。
