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Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.

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. 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.

SUBMITTER: Connolly JJ

PROVIDER: S-EPMC10527667 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.

Connolly John J JJ Berner Eta S ES Smith Maureen M Levy Samuel S Terek Shannon S Harr Margaret M Karavite Dean D Suckiel Sabrina S Holm Ingrid A IA Dufendach Kevin K Nelson Catrina C Khan Atlas A Chisholm Rex L RL Allworth Aimee A Wei Wei-Qi WQ Bland Harris T HT Clayton Ellen Wright EW Soper Emily R ER Linder Jodell E JE Limdi Nita A NA Miller Alexandra A Nigbur Scott S Bangash Hana H Hamed Marwan M Sherafati Alborz A Lewis Anna C F ACF Perez Emma E Orlando Lori A LA Rakhra-Burris Tejinder K TK Al-Dulaimi Mustafa M Cifric Selma S Scherr Courtney Lynam CL Wynn Julia J Hakonarson Hakon H Sabatello Maya M

Genetics in medicine : official journal of the American College of Medical Genetics 20230526 9

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 rep ...[more]

PMID: 37246632

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Project description:IntroductionBy linking datasets, electronic records can be used to build large birth-cohorts, enabling researchers to cost-effectively answer questions relevant to populations over the life-course. Currently, around 5.8 million Palestinian refugees live in five settings: Jordan, Lebanon, Syria, West Bank, and Gaza Strip. The United Nations Relief and Works Agency for Palestine Refugees in the Near East (UNRWA) provides them with free primary health and elementary-school services. It maintains electronic records to do so.We aimed to establish a birth cohort of Palestinian refugees born between 1st January 2010 and 31st December 2020 living in five settings by linking mother obstetric records with child health and education records and to describe some of the cohort characteristics. In future, we plan to assess effects of size-at-birth on growth, health and educational attainment, among other questions.MethodsWe extracted all available data from 140 health centres and 702 schools across five settings, i.e. all UNRWA service users. Creating the cohort involved examining IDs and other data, preparing data, de-duplicating records, and identifying live-births, linking the mothers' and children's data using different deterministic linking algorithms, and understanding reasons for non-linkage.ResultsWe established a birth cohort of Palestinian refugees using electronic records of 972,743 live births. We found high levels of linkage to health records overall (83%), which improved over time (from 73% to 86%), and variations in linkage rates by setting: these averaged 93% in Gaza, 89% in Lebanon, 75% in Jordan, 73% in West Bank and 68% in Syria. Of the 423,580 children age-eligible to go to school, 47% went to UNRWA schools and comprised of 197,479 children with both health and education records, and 2,447 children with only education records. In addition to year and setting, other factors associated with non-linkage included mortality and having a non-refugee mother. Misclassification errors were minimal.ConclusionThis linked open birth-cohort is unique for refugees and the Arab region and forms the basis for many future studies, including to elucidate pathways for improved health and education in this vulnerable, understudied population. Our characterization of the cohort leads us to recommend using different sub-sets of the cohort depending on the research question and analytic purposes.

Dataset Information

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.

Publications

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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