1. Ontario Health Insurance Plan (OHIP) coverage
At this time, GSO is only accepting genome-wide sequencing (GWS) requests for Ontario patients insured under OHIP. Testing for non-Ontario patients is not available. For uninsured patients who meet the clinical eligibility criteria, please contact the catchment laboratory assigned to your institution to discuss options for testing. Ontario patients who have coverage under the Interim Federal Health Program (IFHP) and are pre-approved for whole exome sequencing (WES) may also be submitted to GSO for testing.
2. Routine vs. Expedited
GSO is currently funded to provide testing on routine turnaround times only. Applications for whole exome sequencing (WES) ordered for other indications should continue to be submitted to the Ministry of Health’s Out-of-Country/Out-of-Province (OOC/OOP) Prior Approval Program for Laboratory testing. Examples of such indications include:
- Fetal cases in an ongoing pregnancy
- Medically urgent cases for which expedited results (<4 weeks) are required and expected to immediately alter management.
3. Postnatal vs. Fetal cases
GSO is not currently funded to provide testing on fetal cases. Cases submitted on fetal samples (defined as <36 weeks of gestation) should be submitted to the Ministry of Health’s Out-of-Country/Out-of-Province (OOC/OOP) Prior Approval Program for Laboratory & Genetic testing. This includes fetal cases from an ongoing pregnancy, and fetal demise/stillbirths.
4. Clinical eligibility
Patients must meet the clinical GWS eligibility criteria as defined by the Ontario Health Provincial Genetic Program (PGP) . Note that the criteria may evolve as more data are generated and should be considered provisional at this time.
Genome-wide sequencing eligibility criteria (must meet ≥ 1 items)
1. Neurodevelopmental indications*
(to be ordered by geneticists or physician specialists as per PGP guidance)
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- Global developmental delay and age 0 to 5 years
- Intellectual disability (moderate, severe, or profound)
- Autism or mild intellectual disability and one or more clinical features suggestive of a genetic syndrome
2. Medical or congenital indications*
(to be ordered by geneticists or physician specialists as per PGP guidance)
-
- 2 or more congenital anomalies
- Suspected neuromuscular disease onset between 0 and 24 months
- Suspected ataxia onset between 0 and 5 years
- One or more cardiac conditions meeting eligibility as per Cardiogenetics Recommendations*
- One or more neurologic conditions meeting eligibility as per Neurogenetics Recommendations*
3. Indications to be ordered or recommended by geneticists
(recommended through consultation, assessment or e-consultation)
-
- Suspected genetic condition with multisystem involvement, progressive clinical course and/or severe developmental or functional impairment
- A broad genetic differential diagnosis that would otherwise require two or more separate targeted genetic investigations
- Uninformative targeted panel where a genetic syndrome is still highly suspected
- Clinical judgement, clinical rationale to be specified
* Recommendations can be found at on the Ontario Health Provincial Genetics Program website
Common reasons for ineligibility include:
- The patient has a molecular diagnosis which explains the phenotype
- The patient has had previous comprehensive panel testing completed in the last 3 years where the panel contained virtually all known genes for the patient’s clinical indication
- The patient has previously undergone clinical whole exome sequencing
- The patient has
- Isolated mild intellectual disability or learning disabilities; or
- Isolated non‐syndromic autism; or
- Isolated neurobehavioural disabilities (e.g., attention deficit disorder); or
- A phenotype highly specific to a known genetic condition for which an optimized genetic panel exists, or for which all known gene‐disease associations could be assessed. If so, then the targeted gene panel should be given priority assuming it is more sensitive (e.g., Noonan spectrum disorders)
- A clinical presentation which is explained by other causative circumstances (e.g., environmental exposures, injury, and infection) based on the most complete clinical history
For the eligibility criteria, please review page 2 of the test requisition.
Check our Frequently Asked Questions page.