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.
In Ontario, our standard newborn screening uses a few drops of blood from a baby’s heel to check for about 30 treatable health conditions. It looks for signs of disease by measuring things like hormones and enzymes in the blood. Almost all babies born in Ontario get this test as part of their regular newborn care.
gNBS uses the same blood sample to screen for many more treatable health conditions by checking a baby’s DNA for changes that could cause disease.
The INFANT study is currently using gNBS to screen for more than 200 conditions. Some of these conditions can be treated early to prevent serious illness. For others, finding out early allows doctors and families to watch for symptoms, make diet changes, or take other steps to keep the baby healthy. gNBS can help babies get the right care sooner and gives families information to support their baby's health.
INFANT stands for Identifying At-risk Newborns from the Analysis of NGS Testing.
It is a research study led by Newborn Screening Ontario (NSO) and the CHEO Research Institute. The INFANT Study use the DNA in in baby's blood sample to identify health conditions early. The goal is to catch conditions as soon as possible, so babies can get care, monitoring, or preventive action in a timely manner.
What is genomic newborn screening (gNBS)?
Genomic newborn screening (gNBS) uses a baby’s DNA to look for a wider range of health conditions than standard newborn screening. Some conditions can be treated right away. For others, early monitoring or preventive care can help keep your baby as healthy as possible.
What is "Next-Generation Sequencing” (NGS)?
Next-Generation Sequencing (NGS) is the technology used in the INFANT study to read a baby’s DNA. DNA is like a set of instructions that tells our bodies how to grow and work. By using NGS, we can:
Find changes in DNA that might cause health problems.
Help babies by identifying conditions before symptoms appear.
Initiate care, monitoring, or preventive action for babies who are at risk for health conditions.
Your baby’s DNA is like an instruction manual that contains all the instructions their body needs to grow and function. In the INFANT study, scientists, doctors and genetic counsellors use NGS to look at specific chapters of that manual (which are called genes). The genes we look at are important for certain health conditions in newborns and children. It’s like scanning only the chapters that are known to cause health problems in early childhood if there are spelling changes, rather than reading the entire book. This helps our team find changes that matter most for your baby’s early health, quickly and accurately.
What kinds of conditions does INFANT look for?
The study looks for rare genetic conditions that can be treated, watched closely, 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.
Will the study tell me everything about my baby’s DNA?
No. The study only looks at genes linked to health conditions that could start in a child under the age of 5. It does not provide complete genome analysis or information about adult-onset conditions.
Can I request my baby’s genetic data file?
Because this is a research study, we cannot share your child’s full genomic sequence (raw data file). Screening results will be returned to you through the process described in the consent form.
What kinds of results can you expect from participating in this study?
There are two main types of results from gNBS:
Positive screen: This means that a genetic change was found that may put your baby at risk for a specific condition.
Negative screen: This means no disease-causing genetic changes were found for the conditions included in the study.
Will the study report all changes found in my baby’s DNA?
No. The INFANT study only reports on genetic changes that are disease-causing. This approach helps families get useful and actionable information without confusion from results that are not yet well understood.
We will not be reporting carrier status.
How is my baby’s privacy protected?
Your baby’s genetic information is kept confidential and stored securely. Only authorized research staff can access it. Results are shared with families and relevant health care providers according to study guidelines.
There are no physical risks to participating in this study. INFANT uses the same blood sample already collected for standard newborn screening. Therefore, no new sample is needed from your baby. However, learning about potential health conditions in your baby can be stressful. Genetic counsellors are available to support families throughout the process.
Is participation in this study mandatory?
No. Participation in this study is completely voluntary. You can choose if you want to enroll your baby. You can also withdraw from the study at any time without affecting your baby’s regular care.
Yes. Almost all babies in Ontario receive standard newborn screening. Choosing not to take part in the INFANT study, or deciding to withdraw later, will not affect your baby’s regular care or standard newborn screening. We will always complete standard newborn screening before using your baby’s sample in the INFANT study. If you decline the standard newborn screen, you will not be eligible for the INFANT study.
How do I enroll my baby in the INFANT study?
Stay tuned for details on how to enroll in 2026.
How will I get results for my baby?
You will receive results for conditions included in the study that are relevant to your baby’s health. If a significant health-related finding is identified, a genetic counsellor will contact you to explain the results and next steps.
Who can I contact for more information?
You can contact the NSO INFANT Study Team by email at researchNSO@cheo.on.ca.
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