Test Addition Process

How is a disease nominated for newborn screening?

• There is a formal process in Ontario to nominate a condition for newborn screening. The process begins with the completion of a simple Disease Nomination Form.
• Individuals or organizations can nominate a condition. You do not need to have medical or laboratory training to complete the nomination.
• The nomination form does not need to be completely filled to be considered. The form is intended to be used by anyone. We recognize that the information available to those submitting the nomination may be limited.
• Submit completed nomination forms to the Newborn Screening Ontario Advisory Council (NSO-AC) by e-mail to nsoac@cheo.on.ca

What happens when a disease is nominated? 

• Once NSO receives a Disease Nomination Form, it is sent to the Chair and the Medical Director for review. They can take one of two actions:
  • Administrative rejection: This will occur when key criteria are not met
    • Publicly available therapy in Ontario – There must be a treatment, and the treatment must be covered by Ontario drug benefit, or there must be a plan of surveillance which prevents complications of disease
    • Early onset disorder – NSO only considers disorders presenting in early childhood
    • Availability of a screening method – We cannot consider disorders where there is no technical possibility for screening. First tier screening by genetics does not meet this requirement although these disorders can be nominated to the INFANT study.
  • Consideration at the next NSO-AC meeting. The NSO-AC will consider the nomination as described below 
• The NSO-AC uses the Disease Discussion Framework to determine whether a) the condition is a potential candidate for newborn screening and warrants further detailed review, or b) the condition is not an appropriate target for newborn screening at the time. A formal response is communicated back to the nominator following this meeting.
• If the NSO-AC decides that further review is needed, a task force is struck. The task force will review the evidence for screening for that disease using published literature and experience from other newborn screening programs. Once the disease full review form is complete (which can take several months), the task force presents their findings to the NSO-AC.
• Based on the findings of the task force, the NSO-AC: 

1. 1. recommends screening for the disease,
   2. does not recommend screening for the disease, or
   3. requests more information to make their decision.

• The NSO-AC may engage with other provincial partners during or after the above process to further inform or refine recommendation(s).
• If the NSO-AC makes a recommendation to begin screening for a disease, a formal request is sent to the Government of Ontario, which makes the ultimate decision whether to approve and fund screening for the disease.

For more information on other activities of the NSO-AC, please visit our NSO Governance page or contact the NSO-AC by e-mailing nsoac@cheo.on.ca.