Department of Health Management and Policy, University of Michigan School of Public Health, Ann Arbor, Mich; Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Mich.
Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Mich.
Transl Res. 2014 May;163(5):466-77. doi: 10.1016/j.trsl.2013.12.007. Epub 2013 Dec 25.
In summer 2011, the Centers for Disease Control and Prevention Office of Public Health Genomics conducted a stakeholder consultation, administered by the University of Michigan Center for Public Health and Community Genomics, and Genetic Alliance, to recommend priorities for public health genomics from 2012 through 2017. Sixty-two responses from health professionals, administrators, and members of the public were pooled with 2 sets of key informant interviews and 3 discussion groups. NVivo 9 and manual methods were used to organize themes. This review offers an interim analysis of progress with respect to the final recommendations, which demonstrated a strong interest in moving genomic discoveries toward implementation and comparative effectiveness (T3/T4) translational research. A translational research continuum exists with familial breast and ovarian cancer at one end and prostate cancer at the other. Cascade screening for inherited arrhythmia syndromes and hypercholesterolemia lags stakeholder recommendations in the United States but not in Europe; implementation of health service-based screening for Lynch syndrome, and integration into electronic health information systems, is on pace with the recommended timeline. A number of options exist to address deficits in the funding of translational research, particularly for oncogenomic gene expression profiling. The goal of personalized risk assessment necessitates both research progress (eg, in whole genome sequencing, as well as provider education in the differentiation of low- vs high-risk status. The public health approach supports an emphasis on genetic test validation while endorsing clinical translation research inclusion of an environmental and population-based perspective.
2011 年夏天，疾病控制与预防中心公共卫生基因组学办公室开展了一项利益攸关方咨询，由密歇根大学公共卫生和社区基因组学中心和遗传联盟管理，以推荐 2012 年至 2017 年公共卫生基因组学的优先事项。从卫生专业人员、管理人员和公众中收集了 62 份回复，其中包括两组关键信息提供者访谈和 3 个讨论小组。使用 NVivo 9 和手动方法对主题进行组织。本综述提供了关于最终建议进展的中期分析，这些建议强烈关注将基因组发现转化为实施和比较效果（T3/T4）转化研究。转化研究存在一个连续体，一端是家族性乳腺癌和卵巢癌，另一端是前列腺癌。在美国，遗传性心律失常综合征和高胆固醇血症的级联筛查滞后于利益攸关方的建议，但在欧洲并非如此；基于卫生服务的林奇综合征筛查的实施以及纳入电子健康信息系统，与推荐的时间表一致。有多种选择可以解决转化研究资金不足的问题，特别是对于肿瘤基因组基因表达谱分析。个性化风险评估的目标需要研究进展（例如，在全基因组测序方面，以及在区分低风险与高风险状态方面的提供者教育）。公共卫生方法支持对遗传测试验证的重视，同时支持临床转化研究纳入环境和基于人群的视角。
