Newborn screening and pediatric genetics

Approximately 140,000 babies are born each year in Ontario.  The majority of these babies are very healthy but some may have a rare disorder that if left undetected or untreated can lead to serious health problems, intellectual disabilities, or even death.

All babies born in Ontario are screened for a panel of 28 disorders that can be treated if detected early in life. After the test, the Medical Genetics Unit at KGH will contact and support the parents of infants who screen positive. 

For more information, visit the Newborn Screening Ontario website and read the following newborn screening fact sheet available in English and French

Pediatric Genetics 

Many childhood disorders have an inherited or genetic cause.  Our Pediatric Genetics Clinic sees both outpatients and pediatric patients in the hospital who are referred for assessment for a known or suspected genetic condition. 

Some common reasons for referral include birth defects, developmental problems, autism, chromosome abnormalities or one of many inherited conditions.  Please feel free to contact us to discuss whether a referral would be beneficial. 
An assessment in our clinic will often include:

  • Review of medical, pregnancy and family history
  • Physical examination
  • Genetic testing, including a discussion of risks, benefits and limitations
  • Organization of appropriate referrals to other health specialists or resource groups in the community
  • Genetic counselling

Physicians can make a referral using the Medical Genetics Referral Form .

Click here to find out more about the Medical Genetics Unit at KGH.