Review|Articles in Press, 100906

Education and Electronic Medical Records and Genomics Network, Challenges and Lessons Learned from a Large-Scale Clinical Trial Using Polygenic Risk Scores

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      Polygenic risk scores (PRS) have potential to improve healthcare by identifying individuals at elevated risk for common complex conditions. Use of PRS in clinical practice, however, requires careful assessment of the needs and capabilities of patients, providers, and healthcare systems. The electronic Medical Records and Genomics (eMERGE) Network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (∼2-10% per condition) for one or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes.
      All ten eMERGE clinical sites conducted focus groups, interviews, and/or surveys to understand educational needs among key stakeholders – participants, providers, and/or study staff. Together, these studies highlighted the need for tools that address the perceived benefit/value of PRS, types of education/support needed, accessibility, and PRS-related knowledge and understanding. Based on findings from these preliminary studies, the network harmonized training initiatives and formal/informal educational resources.
      This paper summarizes eMERGE’s collective approach to assessing educational needs and developing educational approaches for primary stakeholders. It discusses challenges encountered and solutions provided.
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