P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period
Year: 2024
Type: article
Abstract: Children’s Hospital of Philadelphia (CHOP) is committed to improving diagnostics and therapeutics for children by leveraging genomic data. One project, “Baby Eagle”, utilizes the CHOP-developed rapid Targeted Analysis of the Genome for Infants (rTAG-I) test, a rapid genomic test for infants in the neonatal intensive care units (NICU) to allow for early diagnosis, implementation of targeted management, recurrence risk counseling and reduced overall costs. A quality improvement framework was utilized to develop Baby Eagle’s primary aim: To decrease the time from genetic consult to disclosure of preliminary actionable genomic sequencing results to under 7 days, while expanding the cohort of NICU patients eligible for rapid genomic sequencing, regardless of race and ethnicity, by December 2023.
Source: Genetics in Medicine Open
Institution: Children's Hospital of Philadelphia
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392606792