Douzgou S, Chervinsky E, Gyftodimou Y, Kitsiou-Tzeli S, Shalev S, Kanavakis E, Donnai D, Clayton-Smith J
Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester, UK.
Genetics' Institute, Ha'Emek Medical Center, Afula, Israel.
Clin Genet. 2016 Jan;89(1):27-33. doi: 10.1111/cge.12571. Epub 2015 Mar 9.
Dysmorphology concerns the recognition and management of rare, multiple anomaly syndromes. Genomic technologies and software for gestalt recognition will re-shape dysmorphology services. In order to reflect on a model of the service in the post-genomic era, we compared the utility of dysmorphology consultations in two Mediterranean cities, Athens, Greece and Afula, Israel (MDS), the Manchester Centre for Genomic Medicine, a UK service with dysmorphology expertise (UKDS) and the DYSCERNE, digital service (DDS). We show that it is more likely that chromosome microarray analysis will be performed if suggested in the UKDS rather than in the MDS; this, most probably reflects the difference of access to genetic testing following funding limitations in the MDS. We also show that in terms of achieved diagnosis, the first visit to a dysmorphology clinic is more significant than a follow-up. We show that a confirmed syndrome diagnosis significantly decreases the requests for other, non-genetic, laboratory investigations. Conversely, it increases the requests for reviews by other specialists and, most significantly (t-test: 8.244), it increases further requests for screening for possible associated complications. This is the first demonstration of the demands, on a health service, following the diagnosis of a dysmorphic condition.
畸形学关注罕见的多发性异常综合征的识别与管理。用于整体识别的基因组技术和软件将重塑畸形学服务。为了思考后基因组时代的服务模式，我们比较了希腊雅典和以色列阿富拉这两个地中海城市的畸形学咨询服务（MDS）、拥有畸形学专业知识的英国曼彻斯特基因组医学中心服务（UKDS）以及数字服务DYSCERNE（DDS）的效用。我们发现，如果在UKDS中被建议进行染色体微阵列分析，那么进行该分析的可能性比在MDS中更大；这很可能反映了MDS因资金限制在获取基因检测方面的差异。我们还表明，就确诊情况而言，首次就诊于畸形学诊所比后续随访更具意义。我们发现，确诊综合征会显著减少对其他非基因实验室检查的需求。相反，它会增加其他专科医生复诊的需求，而且最显著的是（t检验：8.244），它会进一步增加对可能相关并发症筛查的需求。这是首次展示出对健康服务而言，畸形状况诊断之后的需求情况。
