Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.

Background: Genetic disorders account for a large percentage of admissions and outpatient visits to children's hospitals around the world. Clinical exome sequencing (CES) is a valuable diagnostic tool in the workup of these disorders; however, it is not routinely requested by general pediatricians. This may represent a missed opportunity to increase patient access to this powerful diagnostic tool. In our institution, general pediatricians can directly order CES. In this context, this study aims to evaluate the appropriateness of CES and its clinical utility when ordered by general pediatricians. Methods: We retrospectively reviewed all CES tests ordered by general pediatricians in our institution between 2019 and 2023 and recorded their indications and results. General pediatricians were interviewed to evaluate how CES impacted the domains of clinical utility by assessing changes in management, communication, subsequent testing, and counseling. In addition, feedback was obtained, and barriers faced by general pediatricians to order CES were assessed. Results: The study cohort (n = 30) included children from the inpatient (60%) and outpatient (40%) departments. A positive finding (a pathogenic or likely pathogenic variant that explains the phenotype) was observed in 11 of 30 cases (37%), while 3 (10%) and 16 (53%) received ambiguous (variant of uncertain significance) and negative results, respectively. The indication was deemed appropriate in all 30 cases (100%). Clinical utility was reported in all 11 positive cases (100%). Reproductive counseling is a notable utility in this highly consanguineous population, as all variants identified, in the 11 positive cases, were autosomal recessive. Conclusion: We show that CES ordered by general pediatricians is appropriately indicated and provides a diagnostic yield comparable to that requested by specialists. In addition, we note the high clinical utility of positive results as judged by the ordering pediatricians. The findings of this study can empower general pediatricians to advocate for expanded CES adoption to improve patient access and shorten their diagnostic odyssey.

Corrigendum to "Fever of unknown origin and liver mass in a Saudi child" [Int J Pediatr Adolesc Med 2 (2) (2015) 79-83].

[This corrects the article DOI: 10.1016/j.ijpam.2015.06.002.].

Fever of unknown origin and liver mass in a Saudi child.

Inflammatory pseudo tumor (IPT) is a rare benign lesion that can occur in any organ in the body. IPT is histologically characterized by the presence of inflammatory cells, especially, plasma cells, spindle-shaped cells, and myofibroblasts. Many cases of IPTs affecting multiple organs in both adults and children have been documented in the literature. Fifty-five cases of hepatic IPTs have been reported in children, and all of them were managed by surgical resection. Limited data are available on IPTs in Arabs. Our aim was to report the case of an 8-year-old Saudi boy who was referred to our hospital with fever of unknown origin since 3 months with associated weight loss and a hepatic mass, and was found to have an IPT of the liver, which was confirmed after surgical resection. 8 years old Saudi boy who presented with fever and liver mass. Ultrasound and MRI abdomen showed heterogeneous liver mass. After surgical resection, his mass histology going with inflammatory pseudo tumor. Following surgical resection his fever subsided. The findings of the present case report show that fever and liver mass in children can be manifestations of a rare disease such as IPT, which should be considered in the differential diagnosis when all investigations are inconclusive. Based on the literature review, surgical excision seems to be the best treatment strategy for this condition. However, the imaging findings, especially the size and location of the mass, must be carefully discussed with the surgical team before the operation.