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Rare disease diagnoses could get faster as ontario tests wider access to genomic sequencing

NCT ID NCT07799792

Diagnosis Sponsor: The Hospital for Sick Children Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Sep 02, 2026 · Last updated Sep 03, 2026 · Updated 1 time

Summary

This trial tests whether non-geneticist doctors in Ontario can order genome-wide sequencing for patients with suspected rare genetic diseases. The goal is to see if this approach speeds up diagnoses and reduces the burden on genetic specialists. Researchers will track how often the test finds a cause, how acceptable the process is to doctors and families, and how well it works in practice.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
Genome-wide sequencing ordering by non-geneticist clinicians
What this could lead to
If it works, this could make genomic testing faster and more accessible for families with rare diseases, reducing wait times and easing the burden on genetic specialists.
What could go wrong
This is an early implementation study with 100 participants, so results may not apply broadly. There are also risks around consent, privacy, and managing unexpected genetic findings.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 100 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Sep 2026

An estimate. Start dates often move.

Expected to finish

Aug 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

All patients who have received genome-wide sequencing in Ontario

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

For intervention outcomes, \- All patients who have received genome-wide sequencing in Ontario are eligible For implementation outcomes, * All non-geneticist clinicians practicing in Ontario who have ordered genome-wide sequencing for their patients are eligible * Caregivers of patients who have had genome-wide sequencing through a non-geneticist clinician in Ontario are eligible, caregivers must be over 18 years of age

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Conditions

The condition(s) this trial relates to.

hereditary disease neurodevelopmental disorder Rare Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Evaluation of mainstreamed models of genetic service delivery Genetic disease Neurodevelomental disorders

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  2. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

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