Genomic Medicine for Ill Neonates and Infants – The GEMINI Study

Protocol Description

The purpose of this multi-center study is to evaluate two genetic tests to see which one is better for diagnosing sick babies whose illness may be caused by a genetic problem. Researchers will compare information provided by whole genome sequencing and a more streamlined, faster test called NewbornDx that evaluates a smaller number of genes that are known to cause problems in babies. Researchers will assess clinical utility of genomic sequencing as well as health outcomes and economic impacts on patients’ families. Results of the genetic tests may be used by doctors to make decisions about the baby’s medical care.

Eligibility Criteria

Subject to certain exclusion criteria, the study is accepting babies up to 1 year of age who have signs or symptoms consistent with a possible genetic disorder and have been admitted to the hospital.
Males and Females: Up to 1 year of age


Blood samples will be collected from babies and parents for genetic testing. For about a year after the baby is sent home, researchers will contact parents monthly for updates on the baby’s health and medical care, including expense information associated with the baby’s medical care.
Visits: Monthly contacts
Duration: 1 year

Status: Open to Enrollment

Source(s) of Support

National Institutes of Health

Primary Investigator

Gerard Vockley, MD, PhD
Thomas Diacovo, MD

Contact Information

For more information about the study or enrollment, please contact:
Jessica Cagle, CRN
Mark Tumblin, CRC