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Genomic decision support needs in pediatric primary care.

Jeffrey W Pennington1, Dean J Karavite1, Edward M Krause1

  • 1Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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Summary
This summary is machine-generated.

Clinical genome sequencing aids in diagnosing rare pediatric conditions. An electronic health record (EHR) tool could improve care coordination for these complex cases.

Keywords:
clinical genetic testingdecision support systemselectronic health records

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Area of Science:

  • Genomics and Bioinformatics
  • Pediatric Medicine
  • Health Informatics

Background:

  • Clinical genome and exome sequencing diagnose pediatric patients with complex conditions.
  • The American Academy of Pediatrics highlights the medical home's role in coordinating multidisciplinary care.
  • Electronic health records (EHRs) with clinical decision support are crucial for managing these patients.

Purpose of the Study:

  • To assess clinician experiences with complex genetic findings.
  • To evaluate current EHR support for coordinating care in rare pediatric genetic conditions.
  • To design and test a novel EHR clinical decision support application.

Main Methods:

  • Interviews with 6 clinicians caring for pediatric patients with rare genetic findings.
  • Design of a candidate EHR clinical decision support application mock-up.
  • Formative exploratory user testing of the mock-up with 26 pediatric primary care providers.

Main Results:

  • Clinicians agreed that current EHRs offer limited support for managing complex genetic cases.
  • User testing indicated that the designed EHR application mock-up would effectively assist in care coordination.
  • The proposed EHR functionality demonstrated potential utility in practice for specific clinical scenarios.

Conclusions:

  • Further development of EHR clinical decision support tools is warranted for pediatric rare genetic conditions.
  • Improved EHR integration can enhance the coordination of care for patients with complex genomic diagnoses.
  • These tools can support primary care pediatricians in navigating multidisciplinary care for rare diseases.