Genomic decision support needs in pediatric primary care

Abstract

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.

Keywords: clinical genetic testing; decision support systems; electronic health records.

Figure 1.

EHR integrated intervention interactive mock-up, including a provider alert, direct linkage to results report, specialist note, education resources for clinicians, patients and families, note templates, problem list, and other documentation resources.

Figure 2.

Bar chart summarizing Likert responses to items regarding clinicians’ perspectives on their role in genomic testing. Each bar is centered on the response of “neutral.” Bars extending to the right indicate favorable responses (up to 100%) and those extending to the left indicate unfavorable responses (up to 100%). The percentages reported at the left and right of each bar indicate the exact percentages of unfavorable vs favorable responses, respectively (excluding neutral responses).

Figure 3.

Bar chart summarizing Likert responses to items on the TAM regarding perceived usefulness of the genomic care assistant. Each bar is centered on the response of “neutral.” Bars extending to the right indicate favorable responses (up to 100%) and those extending to the left indicate unfavorable responses (up to 100%). The percentages reported at the left and right of each bar indicate the exact percentages of unfavorable vs favorable responses, respectively (excluding neutral responses).