Stakeholder consultation insights on the future of genomics at the clinical-public health interface

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• 作者：Stephen M. Modell^a ; ^b ; ^{mod@umich.edu" class="auth_mail}Author Vitae ; Sharon L.R. Kardia^b ; Toby Citrin^a
• 关键词：CDC ; Centers for Disease Control and Prevention ; CF ; cystic fibrosis ; CTSA ; Clinical and Translational Science Award ; EGAPP ; Evaluation of Genomic Applications in Practice and Prevention ; FHH ; family health history ; GEP ; gene expression profiling ; NIH ; National Institutes of Health ; OPHG ; Office of Public Health Genomics ; PR ; Priorities Report ; RFI ; Request for Information ; SSRI ; selective serotonin reuptake inhibitor ; UHC ; United Healthcare ; WGS ; whole genome sequencing
• 刊名：Translational Research
• 出版年：May 2014
• 年：2014
• 卷：163
• 期：5
• 页码：466-477
• 全文大小：448 K

文摘

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.