MAGNET: Making Genomics Accessible For Newborns In Texas
Baylor College of Medicine
Summary
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering feedback from healthcare providers. Researchers will provide rapid whole genome sequencing (WGS) to 200 infants over a period of 5 years. Data will be collected via Consultagene, surveys, and qualitative interviews.
Description
The study will use advanced testing such as WGS and RNA sequencing to look for possible diagnoses in infants. Only newborns with an unknown genetic diagnosis and admitted to a NICU in select Texas hospitals will be included. The researchers have executed broad reliance agreements with the participating NICUs in the study. Baylor IRB will serve as the IRB of record for all participating sites. All referrals will be received through Consultagene (www.consultagene.org). Baylor College of Medicine (BCM) will conduct virtual genetic evaluations using video visits, with help from the local hospital…
Eligibility
- Age range
- 0–0 years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * Undiagnosed infants from 0-90 days of age, with a diverse group of phenotypes and strongly suspected to have genetic disorders. Exclusion Criteria: * (1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating an inborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence of other congenital anomalies; (7) isolated birth defects such as myelomeningocele, cleft lip/palat…
Interventions
- GeneticRapid whole genome sequencing
All consented patients will receive a virtual genetic evaluation and rapid whole genome sequencing
Location
- Baylor College of MedicineHouston, Texas