Genomic decision support needs in pediatric primary care

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.