Rapid diagnosis in the neonatal and cardiac intensive care units (NICU, CICU) is essential to provide care and treatment to critically ill infants. Rapid genomic testing can provide answers in a high percentage of our patients, and ideally should be available to most babies in the neonatal and cardiac intensive care units (NICU, CICU).
However, there are several challenges that interfere with genomic testing in acute care settings. These include cost, understanding of the necessity by insurance companies, access to genetic counseling, knowledge of non-genetics clinicians, awareness of test options by families, and turnaround time.
For these reasons, CHOP and its Research Institute, with additional support from philanthropic funding, launched Baby Eagle, a program of the Omics and Big Data Initiative that couples quality improvement and research. Baby Eagle strives to fundamentally change the delivery of genomic diagnostics to provide equitable access to efficient, personalized care and treatment as early as possible. The program’s name is inspired by other rapid genome testing efforts across the country, including Project Baby Bear in California and Project Baby Manatee in Florida.
For the Baby Eagle program, the Genomic Diagnostic Laboratory (GDL) and clinical genetic champions from across the institution developed the Rapid Targeted Analysis of the Genome-Infant (rTAG-I), a novel test that sequences the entire genome and then analyzes ~3,000 genes associated with clinical diagnoses in early childhood. The rTAG-I test is offered to infants under 1 year of age hospitalized in the NICU or CICU who have a genetics consult.
As of May 2024, the Baby Eagle initiative has exceeded its goal to implement a rapid genomic test that decreases the turnaround time to less than two weeks and increases accessibility of testing. The rTAG-I test has been performed on more than 200 infants and has improved the average turnaround time from three months (for routine exome/genome) to an average of 9 days. Among all infants tested, 31% had a positive rTAG-I test result, and among infants suspected to have a “likely” genetic diagnosis, the diagnostic yield was 61%. This initiative also successfully expanded access to rapid genome sequencing from 1% to 18% of critically ill infants.
This increase in timely diagnostics has revolutionized care for critically ill infants. rTAG-I has facilitated necessary testing and subspecialty care, individualized therapeutics, and avoided invasive procedures. Early genomic diagnosis ensures that the clinical team and family can make informed decisions about care as quickly as possible and understand recurrence risks.
We believe this is just the beginning of improving the process of genomic testing for our sickest patients. Ultimately we hope to expand access to rTAG-I to all infants throughout the hospital and develop additional rTAG tests for different patient populations, such as children in our pediatric intensive care unit.
Families whose children have the rTAG-I test are also invited to participate in a research study that will allow for further refinement of the test, investigation of the underlying mechanisms of genetic disorders, and improved understanding of which patients and families will benefit most from this technology. The samples and data from the Baby Eagle research participants also are available to other researchers at CHOP.
We want to recognize and thank the Baby Eagle program leaders who are driving discovery that facilitates the availability of cutting-edge, omics-enabled care to patients from all backgrounds, including complex and vulnerable populations: Taylor Wild, MD, (Neonatology and Genetics), Nancy Spinner, PhD, and Matt Dulik, PhD, (Genomic Diagnostics), and Ian Krantz, MD, (formerly of Genetics), and a multidisciplinary team representing the GDL, Neonatology, Genetics, Cardiology, the Omics Initiative, and the Center for Healthcare Quality and Analytics.
The Baby Eagle and Omics Initiative teams highlighted the program at the American College of Medical Genetics & Genomics Annual Clinical Genetics Meeting in Toronto in March 2024. Contact them for more information about these efforts and plans to grow the program in 2025 to ensure omics-enabled care is accessible to ALL critically ill infants across the hospital.
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Rapid diagnosis in the neonatal and cardiac intensive care units (NICU, CICU) is essential to provide care and treatment to critically ill infants. Rapid genomic testing can provide answers in a high percentage of our patients, and ideally should be available to most babies in the neonatal and cardiac intensive care units (NICU, CICU).
However, there are several challenges that interfere with genomic testing in acute care settings. These include cost, understanding of the necessity by insurance companies, access to genetic counseling, knowledge of non-genetics clinicians, awareness of test options by families, and turnaround time.
For these reasons, CHOP and its Research Institute, with additional support from philanthropic funding, launched Baby Eagle, a program of the Omics and Big Data Initiative that couples quality improvement and research. Baby Eagle strives to fundamentally change the delivery of genomic diagnostics to provide equitable access to efficient, personalized care and treatment as early as possible. The program’s name is inspired by other rapid genome testing efforts across the country, including Project Baby Bear in California and Project Baby Manatee in Florida.
For the Baby Eagle program, the Genomic Diagnostic Laboratory (GDL) and clinical genetic champions from across the institution developed the Rapid Targeted Analysis of the Genome-Infant (rTAG-I), a novel test that sequences the entire genome and then analyzes ~3,000 genes associated with clinical diagnoses in early childhood. The rTAG-I test is offered to infants under 1 year of age hospitalized in the NICU or CICU who have a genetics consult.
As of May 2024, the Baby Eagle initiative has exceeded its goal to implement a rapid genomic test that decreases the turnaround time to less than two weeks and increases accessibility of testing. The rTAG-I test has been performed on more than 200 infants and has improved the average turnaround time from three months (for routine exome/genome) to an average of 9 days. Among all infants tested, 31% had a positive rTAG-I test result, and among infants suspected to have a “likely” genetic diagnosis, the diagnostic yield was 61%. This initiative also successfully expanded access to rapid genome sequencing from 1% to 18% of critically ill infants.
This increase in timely diagnostics has revolutionized care for critically ill infants. rTAG-I has facilitated necessary testing and subspecialty care, individualized therapeutics, and avoided invasive procedures. Early genomic diagnosis ensures that the clinical team and family can make informed decisions about care as quickly as possible and understand recurrence risks.
We believe this is just the beginning of improving the process of genomic testing for our sickest patients. Ultimately we hope to expand access to rTAG-I to all infants throughout the hospital and develop additional rTAG tests for different patient populations, such as children in our pediatric intensive care unit.
Families whose children have the rTAG-I test are also invited to participate in a research study that will allow for further refinement of the test, investigation of the underlying mechanisms of genetic disorders, and improved understanding of which patients and families will benefit most from this technology. The samples and data from the Baby Eagle research participants also are available to other researchers at CHOP.
We want to recognize and thank the Baby Eagle program leaders who are driving discovery that facilitates the availability of cutting-edge, omics-enabled care to patients from all backgrounds, including complex and vulnerable populations: Taylor Wild, MD, (Neonatology and Genetics), Nancy Spinner, PhD, and Matt Dulik, PhD, (Genomic Diagnostics), and Ian Krantz, MD, (formerly of Genetics), and a multidisciplinary team representing the GDL, Neonatology, Genetics, Cardiology, the Omics Initiative, and the Center for Healthcare Quality and Analytics.
The Baby Eagle and Omics Initiative teams highlighted the program at the American College of Medical Genetics & Genomics Annual Clinical Genetics Meeting in Toronto in March 2024. Contact them for more information about these efforts and plans to grow the program in 2025 to ensure omics-enabled care is accessible to ALL critically ill infants across the hospital.
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CHOP Omics Initiative