Our INFANT study is a research study testing whether genomic newborn screening could be a useful addition to Ontario’s standard newborn screening program.
Genomic newborn screening (gNBS) uses whole genome sequencing to look at a set list of genes linked to conditions that:
Participation is voluntary, and there is no cost to families.
The study re-uses the same newborn heel-prick sample taken shortly after birth for Ontario’s standard newborn screening program.
This research study has been approved by the CHEO Research Ethics Board.
To join, families follow these steps:
Once you provide consent, we check whether there is enough suitable leftover newborn screening sample for your baby to participate. Some babies will not be eligible for reasons such as insufficient sample or sample quality.
If your baby is eligible, there is nothing else for you to do. We will let you know if there is an issue with your baby's sample.
If you have questions at any point, email infant@cheo.on.ca.
You will receive your baby’s results within approximately 90 days of consenting into the study.
A screen positive result does not confirm a diagnosis—additional tests are needed. If your baby’s result shows an increased chance of having one of the conditions included in the study, you will receive:
If your baby screens negative, your baby has a much lower chance of having any of the conditions included in the study.
Most babies will receive a screen-negative result.
This will occasionally happen when we are unable to sequence your infant’s sample. You will receive an ineligibility letter.
