2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Implementation of Genetic Inpatient Consultation Services in Pediatrics: DNA (Discover New Answers) Consult Team

Pdf Summary

This study describes the implementation and value of inpatient genetic consultation services in a pediatric setting. The study evaluated the partnership between geneticists and genetic counselors in providing consultations and quantified the demand, complexity of evaluations, utility of testing modalities, challenges, and outcomes within this patient population.<br /><br />The study took place at Ann & Robert H. Lurie Children's Hospital of Chicago from December 2021 to September 2022. The DNA consult team consisted of three clinical geneticists, one physician assistant, and three genetic counselors.<br /><br />A total of 171 new genetic consultations were requested during the study period. The majority of consultations were requested by the intensive care units (63.7%), followed by the general floor (34.5%). Most cases (54.4%) did not have genetic testing prior to the consultation request.<br /><br />The DNA consult team recommended genetic testing in 142 cases, with an overall diagnostic yield of 38.7%. The most common indications for consultation were multiple congenital anomalies, multiple systems, and suspected metabolic conditions. The timing of consult requests also influenced the diagnostic yield, with the highest yield observed when consulted within the first three days of admission.<br /><br />Microarray testing had a low yield in this cohort (0.3% of total cases), suggesting reduced clinical utility in the setting of inpatient testing at a pediatric hospital. Whole genome sequencing/whole exome sequencing (WGS/WES) was performed in 78 cases, with a diagnostic yield of 47.4%. Trio testing had a higher diagnostic yield compared to singleton/duo testing.<br /><br />The study also identified eleven cases (7.7%) with incidental diagnoses, including atypical presentations of recognizable genetic syndromes, cancer predisposition syndromes, and previously unreported non-paternity. This emphasizes the importance of appropriate pretest counseling and collaboration with genetics providers to ensure accurate phenotyping.<br /><br />The findings of this study support the need for dedicated inpatient genetics services to guide diagnostic approaches and maximize diagnostic yield in the pediatric population. Further research is needed to determine the needs and sustainability of similar genetic consultation models in other institutions.

Asset Subtitle

Presenting Author - Merlene Peter, MMSc, CGC; Co-Author - Rachel E. Hickey, MS, CGC; Co-Author - Miguel A. Moran, MS, CGC; Co-Author - Anne M. McRae, MSGC, CGC, MS; Co-Author - Joel Charrow, MD; Co-Author - Joshua Baker, DO, FAAP, FACMG; Co-Author - Carlos Prada, MD;

Meta Tag

Genetic Testing

Genome sequencing

Co-Author Rachel E. Hickey, MS, CGC

Co-Author Miguel A. Moran, MS, CGC

Co-Author Anne M. McRae, MSGC, CGC, MS

Co-Author Joel Charrow, MD

Co-Author Joshua Baker, DO, FAAP, FACMG

Co-Author Carlos Prada, MD

Presenting Author Merlene Peter, MMSc, CGC

Keywords

inpatient genetic consultation services

pediatric setting

geneticists

genetic counselors

consultations

diagnostic yield

genetic testing

timing of consult requests

WGS/WES

incidental diagnoses