Rapid genetic testing and virtual genetic consults for newborns with unexplained birth defects in Texas
MAGNET: Making Genomics Accessible For Newborns In Texas
This project will test rapid whole genome sequencing and virtual genetic consultations for seriously ill newborns in Texas to find genetic causes of birth defects.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 410 (estimated) |
| Ages | 1 Day to 90 Days |
| Sex | All |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 1 site (Houston, Texas) |
| Trial ID | NCT07102966 on ClinicalTrials.gov |
What this trial studies
Baylor College of Medicine will provide rapid whole genome sequencing, with optional RNA sequencing, for up to 200 undiagnosed infants admitted to participating Texas NICUs over five years. Virtual genetic evaluations will be conducted via the Consultagene platform with support from the local hospital teams, and blood or buccal swabs will be collected from infants and parents for testing. Results are returned in about a week and families receive genetic counseling through a virtual visit, with additional testing as needed. The study will also collect provider feedback, surveys, and interviews and will store deidentified DNA and clinical data for future research.
Who should consider this trial
Good fit: Undiagnosed infants aged 0–90 days admitted to participating Texas NICUs with features suggesting a genetic disorder and who do not meet exclusion criteria are ideal.
Not a fit: Infants with known chromosomal diagnoses, isolated birth defects without other anomalies, abnormalities explained by prenatal testing or teratogens, or those who are hemodynamically unstable are unlikely to benefit.
Why it matters
Potential benefit: Faster genetic diagnoses could guide medical care sooner, connect families to appropriate treatments or trials, and reduce diagnostic uncertainty.
How similar studies have performed: Similar rapid whole genome sequencing programs in neonatal intensive care units have shown higher diagnostic yields and meaningful impacts on clinical management.
Eligibility criteria
Show full inclusion / exclusion criteria
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/palate, cardiac septal defects, isolated congenital diaphragmatic hernia, etc.; (8) birth defects due to known teratogens i.e., alcohol, Isotretinoin, etc.; (9) multiple congenital anomalies associated with maternal diabetes; (10) VACTERL association; and (11) hemodynamically unstable newborns needing transport for higher level of care.
Where this trial is running
Houston, Texas
- Baylor College of Medicine — Houston, Texas, United States (Recruiting)
Study contacts
- Principal investigator: Brendan Lee, MD, PhD — Baylor College of Medicine
- Study coordinator: Seema R Lalani, MD
- Email: seemal@bcm.edu
- Phone: 281-224-0600
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.