2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genetic Test Stewardship for Clinical Exome Sequencing: Review of Critical Care Orders at Texas Children's Hospital

Pdf Summary

Genomic testing, specifically exome and genome sequencing (ES, GS), has shown its value in pediatric critical care settings. These tests can help in shortening the time it takes to diagnose a patient and lead to improved care and cost-savings. However, while technologies like GS are available, they are not accessible to everyone due to cost, logistics, and the need for professional interpretation. Therefore, ES is more commonly used. This study aims to explore how the use of ES can be further refined and how laboratory genetic test stewardship can enhance best-practice ordering, reporting efficacy, patient safety, and financial liability for hospitals and patients.<br /><br />The results of the study show that the diagnostic yield of ES is consistent with previous reports in pediatric populations at around 24%. However, it is noted that some diagnoses made by ES could have been achieved through targeted testing. Delays in test results were often attributed to a failure to provide parent samples in a timely manner. The use of buccal swabs for parent samples may increase compliance but could have higher failure rates than peripheral blood samples. The study also found that some ES tests could have been replaced with panels or non-ES tests for a faster diagnosis.<br /><br />The study emphasizes the importance of genetic test stewardship in the inpatient setting. Genetic testing should be relevant to a patient's reason for admission and should be able to provide results during or shortly after the admission. Criteria should be established to determine the appropriateness of ES and recommendations for alternative tests should be made when applicable. Genetic test stewardship can ultimately improve patient care by providing faster diagnoses and reducing the financial burden of testing.<br /><br />In conclusion, while ES has proven to be a valuable diagnostic tool in pediatric critical care, its use can be further refined through genetic test stewardship. This can allow for more appropriate test selection, faster diagnoses, and cost-savings for hospitals and patients.

Asset Subtitle

Presenting Author - Haley Streff, MS; Co-Author - Lisa F. Saba, MS; Co-Author - Runjun D. Kumar, MD PhD, MD, PhD; Co-Author - Dolores Lopez-Terrada, MD, PhD; Co-Author - Jennifer C. Scull, PhD;

Meta Tag

Exome sequencing

Genetic Testing

Co-Author Lisa F. Saba, MS

Co-Author Runjun D. Kumar, MD PhD, MD, PhD

Co-Author Dolores Lopez-Terrada, MD, PhD

Co-Author Jennifer C. Scull, PhD

Presenting Author Haley Streff, MS

Keywords

genomic testing

exome sequencing

genome sequencing

pediatric critical care

diagnosis

cost-savings

test accessibility

laboratory genetic test stewardship

faster diagnoses

financial burden