Genetic testing at birth could become a reality as researchers launch a groundbreaking study in Ontario. The INFANT study will offer whole genome screening to 10,000 newborns, using the dried blood spot already collected for standard newborn screening. This research, the first of its kind in North America, aims to determine whether genomic screening can be integrated into Ontario's routine newborn screening program.
Personal Story: A Life Saved by Screening
Robyn Miller was awakened by frantic knocking at her door just days after her daughter's birth. Her midwife delivered an urgent message to contact SickKids Hospital. Specialists were concerned about results from a routine blood screening test. Miller, her husband Briam, and their baby drove from Huntsville to Toronto, where testing confirmed their daughter had phenylketonuria (PKU), a rare metabolic disorder that prevents the breakdown of an amino acid found in protein-rich foods. Without early treatment, PKU can cause irreversible brain damage, severe intellectual disability, and seizures.
Initially, Briam hesitated about the screening, thinking it only provided a risk assessment. After further education, they consented. "I turned down doing that testing for our daughter," he said. "Luckily, they continued to educate me on what it actually was and the importance of it." The couple requested their daughter remain unnamed to protect her privacy.
Expanding Newborn Screening
The program that saved the Miller's daughter could soon expand dramatically. Newborn Screening Ontario, based at CHEO, currently tests for over 25 treatable conditions, including metabolic diseases, endocrine disorders, sickle cell disease, and cystic fibrosis. Each year, about 145,000 Ontario babies are screened using blood from a heel prick 24 to 48 hours after birth, identifying roughly 350 infants with treatable diseases. The INFANT study will use non-commercial sequencing to look for pathogenic variants in 223 genes linked to serious but treatable early-onset childhood diseases.
"This is the biggest potential expansion in newborn screening in Ontario's history," said Dr. Neal Sondheimer, medical director of Newborn Screening Ontario at CHEO. The study will offer whole genome screening with parental consent, using the same dried blood spot already collected.
The Miller family's experience highlights the life-saving potential of such testing. "Our world completely turned over when we got the diagnosis," Robyn recalled. But early detection allowed for immediate treatment, preventing severe outcomes.
