{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:03:50Z","timestamp":1761102230289},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p>","DOI":"10.1093\/jamia\/ocw184","type":"journal-article","created":{"date-parts":[[2017,1,3]],"date-time":"2017-01-03T20:05:50Z","timestamp":1483473950000},"page":"851-856","source":"Crossref","is-referenced-by-count":5,"title":["Genomic decision support needs in pediatric primary care"],"prefix":"10.1093","volume":"24","author":[{"given":"Jeffrey W","family":"Pennington","sequence":"first","affiliation":[{"name":"Department of Biomedical and Health Informatics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}]},{"given":"Dean J","family":"Karavite","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Health Informatics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}]},{"given":"Edward M","family":"Krause","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Health Informatics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}]},{"given":"Jeffrey","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Health Informatics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}]},{"given":"Barbara A","family":"Bernhardt","sequence":"additional","affiliation":[{"name":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA"}]},{"given":"Robert W","family":"Grundmeier","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Health Informatics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA"}]}],"member":"286","published-online":{"date-parts":[[2017,2,19]]},"reference":[{"issue":"6","key":"2020110612383019600_ocw184-B1","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1016\/j.jpeds.2015.08.065","article-title":"Primary care providers\u2019 initial evaluation of children with global developmental delay: a clinical vignette study","volume":"167","author":"Tarini","year":"2015","journal-title":"J Pediatrics."},{"issue":"5","key":"2020110612383019600_ocw184-B2","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1038\/gim.2015.113","article-title":"What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative","volume":"18","author":"Schaefer","year":"2016","journal-title":"Genet Med."},{"key":"2020110612383019600_ocw184-B3","doi-asserted-by":"crossref","first-page":"S231","DOI":"10.1542\/peds.2013-1032H","article-title":"Primary care and genetics and genomics","volume":"132","author":"Scott","year":"2013","journal-title":"Pediatrics."},{"issue":"18","key":"2020110612383019600_ocw184-B4","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing","volume":"312","author":"Yang","year":"2014","journal-title":"JAMA."},{"issue":"6","key":"2020110612383019600_ocw184-B5","doi-asserted-by":"crossref","first-page":"e1605","DOI":"10.1542\/peds.2011-0080","article-title":"Incidental Medical Information in Whole-Exome Sequencing","volume":"129","author":"Solomon","year":"2012","journal-title":"Pediatrics."},{"issue":"7","key":"2020110612383019600_ocw184-B6","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/gim.2013.73","article-title":"ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing","volume":"15","author":"Green","year":"2013","journal-title":"Genet Med."},{"issue":"1","key":"2020110612383019600_ocw184-B7","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1542\/peds.110.1.184","article-title":"The Medical Home","volume":"110","author":"Medical Home Initiatives for Children With Special Needs Project Advisory Committee","year":"2002","journal-title":"Pediatrics."},{"key":"2020110612383019600_ocw184-B8","unstructured":"AAP Genetics in Primary Care Institute [Internet]. https:\/\/geneticsinprimarycare.aap.org\/. 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