Research: parents say they want to know everything that turns up in newborn screening tests, but then don’t use the information or use it inappropriately

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Research: parents say they want to know everything that turns up in newborn screening tests, but then don’t use the information or use it inappropriately

Toronto, September 8, 2016

By Leslie Shepherd

Dr. Yvonne Bombard
Dr. Yvonne Bombard

Newborn screening is considered to be a “baby’s first test.” Within the first two days of birth, a baby’s heel is pricked to obtain a small amount of blood that is screened for up to dozens of genetic diseases, especially those where early detection and treatment can prevent irreversible damage.

However, technological advances have allowed newborn screening to test for hundreds of diseases, including those for which there may be no established treatment, and identify infants that are carriers of genes for certain diseases.

A new study published online today in the journal Genetics in Medicine found that parents said they wanted to be given all of that information – not just whether their babies had a treatable condition but whether they were also just the carrier of a gene that could be passed onto their own children.

But when they were given their babies' carrier information, many parents didn’t use it, or used the information inappropriately, said lead author Dr. Yvonne Bombard, a genomics and health services researcher in the Li Ka Shing Knowledge Institute of St. Michael’s Hospital.

Identifying infant carriers through newborn screening is controversial because it goes against international guidelines and it is done without consent – newborn screening is a universal, routine screen that does not typically require explicit consent from parents.

However, some say that the identification of infant carriers provides the opportunity to inform parents and infants of future reproductive risks, a position that has been used to justify screening for diseases that are not necessarily treatable.

Dr. Bombard’s study looked at the reproductive impact of carrier result disclosure through newborn screening, using Cystic Fibrosis as a case example. She found that 92 per cent of parents shared the news with other relatives. But 65 per cent said the news would not influence their family planning decisions. All the mothers said they valued learning their infants’ carrier results. Some had carrier testing and shared the results with family. Others did not use the results or used them in unintended ways – such as sharing the news with both sides of the family when only one parent was a carrier.

This paper is an example of how St. Michael's Hospital is making Ontario Healthier, Wealthier, Smarter.

About St. Michael's Hospital

St. Michael’s Hospital provides compassionate care to all who enter its doors. The hospital also provides outstanding medical education to future health care professionals in 27 academic disciplines. Critical care and trauma, heart disease, neurosurgery, diabetes, cancer care, care of the homeless and global health are among the hospital’s recognized areas of expertise. Through the Keenan Research Centre and the Li Ka Shing International Healthcare Education Centre, which make up the Li Ka Shing Knowledge Institute, research and education at St. Michael's Hospital are recognized and make an impact around the world. Founded in 1892, the hospital is fully affiliated with the University of Toronto.

Media contacts

For more information or to arrange an interview with Dr. Bombard, please contact:

Leslie Shepherd
Manager, Media Strategy, St. Michael's Hospital

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