Understanding the drivers of research on human genes is a critical component to success of translation efforts of genomics into medicine and public health. Using publicly available curated online databases we sought to identify specific genes that are featured in translational genetic research in comparison to all genomics research publications. Articles in the CDC’s Public Health Genomics and Precision Health Knowledge Base were stratified into studies that have moved beyond basic research to population and clinical epidemiologic studies (T1: clinical and population human genome epidemiology research), and studies that evaluate, implement, and assess impact of genes in clinical and public health areas (T2+: beyond bench to bedside). We examined gene counts and numbers of publications within these phases of translation in comparison to all genes from Medline. We are able to highlight those genes that are moving from basic research to clinical and public health translational research, namely in cancer and a few genetic diseases with high penetrance and clinical actionability. Identifying human genes of translational value is an important step towards determining an evidence-based trajectory of the human genome in clinical and public health practice over time.

了解人类基因研究的驱动因素是将基因组学成功转化为医学和公共卫生的关键因素。与所有基因组学研究出版物相比，我们使用公开提供的经过整理的在线数据库，试图鉴定出在转化遗传学研究中具有特定特征的特定基因。CDC的“公共卫生基因组学和精确健康知识库”中的文章分为基础研究以外的研究，包括人群和临床流行病学研究（T1：临床和人群人类基因组流行病学研究）以及评估，实施和评估影响的研究临床和公共卫生领域的基因检测（T2 +：从工作台到床边）。与来自Medline的所有基因相比，我们检查了这些翻译阶段的基因计数和出版物数。我们能够突出显示那些从基础研究转向临床和公共卫生转化研究的基因，即癌症和一些具有高渗透性和临床可操作性的遗传疾病。鉴定具有翻译价值的人类基因是确定随着时间的推移在临床和公共卫生实践中确定人类基因组循证轨迹的重要一步。