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Appl Clin Inform 2025; 16(01): 193-204
DOI: 10.1055/a-2445-9185
Research Article

A Comprehensive Approach to Clinical Decision Support in the Return of Genome Informed Risk Assessments to Primary Care Pediatricians

Dean Karavite
1   Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
,
Shannon Terek
2   Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
,
John J. Connolly
2   Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
,
Margaret Harr
2   Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
,
Naveen Muthu
3   Division of Hospital Medicine, Department of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, Georgia, United States
,
Hakon Hakonarson
2   Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
4   Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
Robert W. Grundmeier
1   Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
5   Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States
› Author Affiliations Funding The eMERGE Genomic Risk Assessment Network at the Children's Hospital of Philadelphia is funded by the National Human Genome Research Institute (NHGRI), U01HG008680.
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Abstract

Background Primary care pediatricians play an important role in genetic testing, including referrals, test ordering, responding to results, assessing risk, treatment, and managing care. As genetic testing rapidly evolves to include new tests identifying patients at risk for certain conditions, alert-based clinical decision support is insufficient in assisting pediatric primary care providers in working with patients, parents, genetics, and other specialties. Supporting pediatricians in the return of these results requires addressing gaps in genetics training and integrating genetics into practice with education, information resources, and specialized tools.

Objectives This study aimed to capture requirements for developing systems and processes to support primary care pediatricians in the return of genome-informed risk assessments.

Methods We performed a requirements analysis to inform the design of clinical decision support tools and processes for pediatric providers of patients who received a genome informed risk assessment, a novel test that combines polygenic risk scores with patient and family histories to deliver a risk assessment for common medical conditions. We developed an interview guide consisting of scenario presentations, questionnaires, and semi-structured questions to elicit provider responses on a broad set of requirements to manage results with patients and caregivers.

Results Twenty providers from 10 primary care pediatric practices within a single health system participated in the study. The findings demonstrated that providers feel responsible to be involved in the process of returning results but require a support system that integrates education, provider and patient information resources, effective communication with genetics, and electronic health record decision support tools that can accommodate a range of clinical scenarios and provider workflow preferences.

Conclusion Supporting providers with the return of genetic testing results such as the genome informed risk assessment requires a comprehensive approach to decision support consisting of education, communication, and a comprehensive and integrated set of electronic health record tools.

Keywords

clinical decision support - requirements analysis and design - workflows and human interactions - genetics - ambulatory care/primary care - pediatrics

Protection of Human and Animal Subjects

This study was determined to be exempt from human studies by the Children's Hospital of Philadelphia Internal Review Board.


Authors' Contributions

D.K. contributed to the conception of the work, the acquisition, analysis, and interpretation of data, drafting, and revising the manuscript. S.T. contributed to the conception of the work, the acquisition, analysis, and interpretation of data, and revising the manuscript. M.H. contributed to the conception of the work and revising the manuscript. N.M. contributed to the conception of the work and revising the manuscript. J.J.C. contributed to the conception of the work, the acquisition, analysis, and interpretation of data, drafting and revising the manuscript. H.H. contributed to the conception of the work and revising the manuscript. R.G. contributed to the conception of the work, the analysis and interpretation of data, and revising the manuscript.


Supplementary Material



Publication History

Received: 26 June 2024

Accepted: 18 October 2024

Article published online:
26 February 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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