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Article
Education and Electronic Medical Records and Genomics Network, Challenges and Lessons Learned from a Large-Scale Clinical Trial Using Polygenic Risk Scores
Genetics in Medicine
  • Ellen Wright Clayton, Vanderbilt University Law School
  • John J. Connolly, Connolly Center for Applied Genomics
  • et al.
Document Type
Article
Publication Date
1-1-2023
Keywords
  • education,
  • eMERGE,
  • Genome-Informed Risk Report,
  • Polygenic risk score,
  • PRS
Disciplines
Abstract

Polygenic risk scores (PRS) have potential to improve health care by identifying individuals that have 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 health care 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 1 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 10 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.

Citation Information
Ellen Wright Clayton, John J. Connolly and et al.. "Education and Electronic Medical Records and Genomics Network, Challenges and Lessons Learned from a Large-Scale Clinical Trial Using Polygenic Risk Scores" Genetics in Medicine Vol. 25 (2023) p. 100906 ISSN: 1098-3600
Available at: http://works.bepress.com/ellen-clayton/39/