PI: Dr. Kristin Kernohan
Co-investigators: Dr. Erika Bariciak, Dr. Pranesh Chakraborty, Dr. Matthew Henderson, Dr. Melanie Lacaria, Dr. Neal Sondheimer
Study contact: [email protected]
Study contact full name: Brittany French/Trisia Balalio
Summary:

In Ontario, newborn screening (also called the “heel-prick test”) is offered to all newborn babies. It can identify ~30 treatable health conditions and helps at-risk babies receive the care and treatment they need early in life, often before symptoms even appear. However, the technology currently used for newborn screening is limited, meaning many other treatable conditions cannot be identified.

The INFANT study is testing a new approach to newborn screening called genomic newborn screening (gNBS) to identify a much larger number of treatable conditions by looking at a baby’s DNA. The goal is to improve the newborn screening process so that all at-risk babies in Ontario can receive the treatment and care they need, allowing them to live healthier lives.

Why participate?

Participation is optional. There is no cost to participate. No additional blood samples or visits are needed. With your permission, we would use the heel-prick sample already collected for standard newborn screening.

Babies who participate in this study will receive genomic newborn screening for over 200 treatable genetic conditions. In the rare event your baby is identified to be at risk for a genetic condition, we will ensure you receive the medical care needed. We are very thankful to families who choose to participate as they will be helping us make newborn screening better for all babies in Ontario.

Who can sign up and how?

Any baby born in Ontario who is 6 months of age or younger is eligible. Parents may sign up online by visiting our study information platform.

If you are a parent expecting a baby, you may register your interest in the study by contacting the study team or by visiting our study information platform. This allows you to review information about the study ahead of time and receive an email reminder after the expected due date. Parents can only make the decision to have their baby participate in this study after their birth.

What happens next?

If your baby is enrolled in the study, you can expect to receive their screening results in approximately 90 days. The study’s clinical team, made up of physicians and genetic counsellors, is available at any time to answer any questions you may have.

The list of diseases screened for can be found here. These conditions are generally very rare, and most babies enrolled in this study will screen negative results, meaning no increased risk was identified. For the babies who receive screen positive results, meaning an increased risk was identified, a genetic counsellor will contact you to explain the results and arrange for your baby to receive the medical care they need as soon as possible.