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Abstract
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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Article info
Publication history
Accepted:
May 18,
2023
Received in revised form:
May 17,
2023
Received:
February 2,
2023
Publication stage
In Press Accepted ManuscriptFootnotes
Conflicts of Interest: Emma Perez is a paid consultant for Allelica Inc. Lori Orlando and Tejinder Rakhra-Burris are founders of a company developing MeTree. Maureen Smith is a Section Editor for the Journal of Genetic Counseling. Maya Sabatello serves as IRB member of the All of Us Research Program.
Identification
Copyright
© 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
