The current state of implementation science in genomic medicine: opportunities for improvement

Details

• Alternative Title:
  Genet Med
• Personal Author:
  Roberts, Megan C. ; Kennedy, Amy E. ; Chambers, David A. ; Khoury, Muin J.
• Description:
  Purpose:
  
  The objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine.
  
  Methods:
  
  We conducted a literature review using the Centers for Disease Control and Prevention’s Public Health Genomics Knowledge Base to examine the current literature in the field of implementation science in genomic medicine. We selected original research articles based on specific inclusion criteria and then abstracted information about study design, genomic medicine, and implementation outcomes. Data were aggregated, and trends and gaps in the literature were discussed.
  
  Results:
  
  Our final review encompassed 283 articles published in 2014, the majority of which described uptake (35.7%, n = 101) and preferences (36.4%, n = 103) regarding genomic technologies, particularly oncology (35%, n = 99). Key study design elements, such as racial/ethnic composition of study populations, were underreported in studies. Few studies incorporated implementation science theoretical frameworks, sustainability measures, or capacity building.
  
  Conclusion:
  
  Although genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited. Current gaps in the literature demonstrate a need to apply implementation science principles to genomic medicine in order to deliver on the promise of precision medicine.
  
  
• Subjects:
  Article Diffusion Of Innovation Dissemination Genetic Research Genomic Medicine Genomics Humans Implementation Outcome And Process Assessment (Health Care) Precision Medicine Translational Research

  More +
• Source:
  Genet Med. 19(8):858-863
• Pubmed ID:
  28079898
• Pubmed Central ID:
  PMC6312663
• Document Type:
  Journal Article
• Funding:
  CC999999/Intramural CDC HHS/United States ; Z99 CA999999/NULL/Intramural NIH HHS/United States
• Volume:
  19
• Issue:
  8
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:149e25dec04c93fba69de87b515ce2f755ca5ef0405f10564f2fcdaaf864c523
• Download URL:
  https://stacks.cdc.gov/view/cdc/61803/cdc_61803_DS1.pdf
• File Type:
  [PDF - 220.06 KB ]