Hum Reprod Update. 2011 Nov-Dec;17(6):829-47. doi: 10.1093/humupd/dmr033. Epub 2011 Sep 6.
The Fifth Evian Annual Reproduction (EVAR) Workshop Meeting discussed knowledge regarding contemporary genetics in female reproduction.
Specialist reproductive medicine clinicians and geneticists delivered presentations based on published literature and current research. The content of this report is based on the expert presentations and subsequent group discussions that took place during this Workshop.
Numerous ovarian genes with a role in infertility have been identified. Future challenges for genetic screening of patients, such as those with polycystic ovary syndrome, primary ovarian insufficiency or endometriosis, include the identification of high-throughput strategies and how to apply these findings to infertile patients. The identification of high-quality embryos in IVF using objective technologies remains a high priority in order to facilitate single-embryo transfer. Gene expression profiling of cumulus cells surrounding the oocyte, and proteomic and metabolomic approaches in embryo culture media may significantly improve non-invasive embryo quality assessment.
The way forward in advancing the knowledge of genes involved in reproduction was considered to be through genome-wide association studies involving large numbers of patients. Establishing international collaboration is required to enable the application of such technologies in sufficient numbers of patients.
第五届依云年度生殖（EVAR）研讨会讨论了女性生殖领域当代遗传学的相关知识。
生殖医学专家和遗传学家根据已发表的文献和当前的研究成果进行了演讲。本报告的内容基于该研讨会期间的专家演讲和随后的小组讨论。
已确定了许多在不孕中起作用的卵巢基因。未来对多囊卵巢综合征、原发性卵巢功能不全或子宫内膜异位症等患者进行遗传筛查的挑战包括确定高通量策略以及如何将这些发现应用于不孕患者。使用客观技术鉴定体外受精中高质量胚胎仍然是一个优先事项，以促进单胚胎移植。卵母细胞周围卵丘细胞的基因表达谱以及胚胎培养介质中的蛋白质组学和代谢组学方法可能会显著改善非侵入性胚胎质量评估。
认为进一步提高与生殖相关基因知识的途径是通过涉及大量患者的全基因组关联研究。需要建立国际合作，以便在足够数量的患者中应用这些技术。
