【佳学基因检测】神经发育性精神疾病的诊断基因检测：缩小推荐与临床实施之间的差距

国内神经内科基因检测十大公司解释

小组讨化癌的基因检测基因解码如何创新治疗《精神与神经疾病个性治疗的方法与措施》《Curr Opin Genet Dev》在. 2021 Jun;68:1-8.发表了一篇题目为《神经发育性精神疾病的诊断基因检测：缩小推荐与临床实施之间的差距》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Brenda M Finucane, David H Ledbetter, Jacob As Vorstman等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

精神科神经科致病基因及精准治疗临床研究内容关键词：

中枢神经系统,GWAS,等位基因失衡,生物时效性,候选基因,染色质相互作用网络,全基因组关联研究,长链非编码RNA,非编码基因变体,通路分析,药物表观基因组学,精神药物,超分辨率显微镜,转录因子

神经科用药指导基因检测临床应用结果

实验室检测的进步显着增加了对罕见的神经发育性精神疾病 (NPD) 遗传病因的检测，特别是发育迟缓/智力残疾、自闭症谱系障碍和精神分裂症。建立基因诊断对于患有这些疾病的个体具有重要的医疗和个人效用。 NPD 的诊断基因测试在临床上是可用的，但在医学遗传学设置之外未得到充分利用。如果没有明确的多学科共识建议、与 NPD 患者合作的医学专家的积极参与以及实践教育和培训，NPD 基因检测的实施将继续落后于其他医学领域。从长远来看，解决教育、后勤和劳动力障碍的合作努力将改善患者护理，并为有针对性、有效的 NPD 治疗铺平道路。

神经及精神疾病及其并发征、合并征国际数据库描述：

Advances in laboratory testing have significantly increased the detection of rare genetic etiologies of neurodevelopmental psychiatric disorders (NPD), particularly developmental delay/ intellectual disability, autism spectrum disorder, and schizophrenia. Establishing a genetic diagnosis has important medical and personal utility for individuals with these conditions. Diagnostic genetic tests for NPD are clinically available but underutilized outside of medical genetics settings. Without clear multidisciplinary consensus recommendations, active involvement of medical specialists working with NPD patients, and practical education and training, the implementation of genetic testing for NPD will continue to lag behind other areas of medicine. In the long-term, collaborative efforts to address educational, logistical, and workforce obstacles will improve patient care and pave the way for targeted, effective NPD treatments.