INFANT is a research study run by Newborn Screening Ontario and the CHEO Research Institute. The study is looking at a new kind of newborn screening called genomic newborn screening (gNBS). This screening test looks at a baby’s DNA to find rare genetic conditions early in life. Finding these conditions early can help babies get the care and treatment they need sooner. This research will help us learn how to make newborn screening better for all babies in the future.
INFANT Study: Identifying At-risk Newborns from the Analysis of NGS Testing
Interested in receiving printed patient materials for your clinic?
The INFANT study team is looking for clinics and healthcare providers who see expecting parents or babies under 6 months of age who would agree to have these materials displayed or made available to patients and families to help us raise awareness about the study.
Our study team would be happy to provide additional details and instructions if you feel this opportunity is relevant to your patient population.
Thanks for considering helping us spread the message about this important study!
Frequently Asked Questions
Why might this study be relevant to my patients?
By participating in the INFANT study, families with newborns can access free screening for over 200 treatable rare but serious disorders that present in infancy and early childhood, versus around 30 conditions currently screened for with standard newborn screening.
What are the study's eligibility criteria?
Babies born in Ontario who have undergone standard newborn screening through Newborn Screening Ontario (NSO) and are under 6 months of age can be signed up to participate now.
Expecting parents are invited to review our online platform before their baby is born. They may register their interest in participating ahead of time, and by entering their expected date of delivery, can sign up to receive a reminder email after their baby is born. They can then decide if they wish to enroll their newborn for this additional screening after the birth of their child.
Does participation require additional blood samples?
No additional bloodwork is necessary. The INFANT screening is conducted using the baby's residual dried blood spot sample already received at NSO.
How can participants join the study?
We are recruiting using passive distribution of recruitment materials in medical clinics and hospitals, which direct parents to an online educational and consenting portal: INFANT study. On this website, parents can learn more about the study, review the informed consent form, and decide if participation is right for them.
What kinds of conditions does INFANT look for?
The study looks for rare genetic conditions that can be monitored, treated, or managed in ways that help a baby or child stay healthy. Finding these conditions early gives the best chance for successful care. For a full list of conditions, please click on the gene list above.
Can I request my patient's genetic data file?
Because this is a research study, we cannot share a child’s full genomic sequence (raw data file). Screening results will be returned to participants directly through the process described in the informed consent form.
For more information, please contact the NSO INFANT Study Team by email at infant@cheo.on.ca or call 613-738-3222 ext. 7826.