Genomic decision support needs in pediatric primary care.
Clinical genome and exome sequencing can diagnose pediatric patients with complex conditions that often require follow-up care with multiple specialties. The American Academy of Pediatrics emphasizes the role of the medical home and the primary care pediatrician in coordinating care for patients who need multidisciplinary support. In addition, the electronic health record (EHR) with embedded clinical decision support is recognized as an important component in providing care in this setting. We interviewed 6 clinicians to assess their experience caring for patients with complex and rare genetic findings and hear their opinions about how the EHR currently supports this role. Using these results, we designed a candidate EHR clinical decision support application mock-up and conducted formative exploratory user testing with 26 pediatric primary care providers to capture opinions on its utility in practice with respect to a specific clinical scenario. Our results indicate agreement that the functionality represented by the mock-up would effectively assist with care and warrants further development.
Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jeffrey W
JW
Pennington
Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dean J
DJ
Karavite
Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Edward M
EM
Krause
Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jeffrey
J
Miller
Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Barbara A
BA
Bernhardt
Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.|Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Robert W
RW
Grundmeier
D000328:Adult; D001291:Attitude of Health Personnel; D001292:Attitude to Computers; D002648:Child; D020000:Decision Support Systems, Clinical; D057286:Electronic Health Records; D005260:Female; D005820:Genetic Testing; D023281:Genomics; D006801:Humans; D007407:Interviews as Topic; D008297:Male; D008875:Middle Aged; D064701:Pediatric Nurse Practitioners; D000072143:Pediatricians; D010372:Pediatrics; D011320:Primary Health Care; D014584:User-Computer Interface
clinical genetic testing; decision support systems; electronic health records