2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Phenotypic Profiles of Rapid Whole Genome Sequencing in Pediatric Patients: a Single Center Study

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A study was conducted to evaluate the use of rapid whole genome sequencing (rWGS) in pediatric patients and determine the phenotypic profiles associated with positive diagnoses. The study included 200 pediatric patients who underwent rWGS at Primary Children's Hospital between July 2019 and January 2022. The majority of patients were white and about one-third identified as Hispanic. The study found that there was no association between diagnostic utility and sex, race, or ethnicity.<br /><br />The patients were divided into different units, with the highest percentage of positive results observed in the Pediatric Intensive Care Unit (PICU). The length of stay varied widely and did not have a statistical relationship with diagnostic utility.<br /><br />When analyzing the clinical characteristics and acuity of the patients, it was found that those with higher PRISM-III scores had a higher percentage of positive diagnoses. ECMO patients also had a higher percentage of positive diagnoses compared to expected averages. Patients with multiple congenital anomalies had a higher diagnostic rate as well.<br /><br />The phenotypic profiles of the patients were categorized by organ systems and problem-based categories. There was no statistically significant difference in diagnostic utility between the various organ systems. However, hepatomegaly and the presence of a hematologic condition were found to be associated with a higher likelihood of a positive diagnosis.<br /><br />Overall, the study highlighted the potential benefits of rWGS in diagnosing pediatric patients and showed that certain phenotypic characteristics may improve the selection of patients for genetic testing. Further studies with larger populations and the involvement of clinical geneticists are needed to establish an algorithm for identifying accurate rWGS candidates.

Asset Subtitle

Presenting Author - Andrew Fontes, DO; Co-Author - Rachel Palmquist, MS, CGC; Co-Author - Erin Gosekampm, DO; Co-Author - Sabrina Malone-Jenkins, MD; Co-Author - Brian J. Shayota, MD, MPH; Co-Author - Joshua L. Bonkowsky, MD;

Meta Tag

Genome sequencing

NextGen Sequencing

Sequencing

Co-Author Rachel Palmquist, MS, CGC

Co-Author Erin Gosekampm, DO

Co-Author Sabrina Malone-Jenkins, MD

Co-Author Brian J. Shayota, MD, MPH

Co-Author Joshua L. Bonkowsky, MD

Presenting Author Andrew Fontes, DO

Keywords

rapid whole genome sequencing

pediatric patients

phenotypic profiles

positive diagnoses

diagnostic utility

PRISM-III scores

ECMO patients

congenital anomalies

hepatomegaly

genetic testing