Genetics Guidance

Evidence-based clinical guidance on genetic testing and services for health care professionals.

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Cardiogenetics
Neurogenetics
Rare and inherited conditions
Dyslipidemia
Familial hypercholesterolemia
Neurodevelopmental disorders
Cancer
Pharmacogenomics

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Patients and care partners
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Cancer Genetic Assessment Referral Guidance

Clinical Indication:
Cancer
Audience:
Health care professionals
Description:
Referral guidance to help identify patients that may benefit from genetic counselling due to a family history of cancer

Enhancing Clinical Cancer Genetic Service Delivery

Clinical Indication:
Cancer
Audience:
Health system administrators
Description:
Recommendations for a new model of care to support access to high-quality cancer genetics services
Publication Date:
2024-November-30

Exome Sequencing in Cardiogenetics

Clinical Indication:
Cardiogenetics
Audience:
Health care professionals
Description:
Quick reference sheet for ordering clinicians that describes who is eligible and where to get additional support.
Publication Date:
2025-July-18

Exome Sequencing in Neurodevelopmental Disorders

Clinical Indication:
Neurodevelopmental disorders
Audience:
Health care professionals
Description:
Quick reference sheet for ordering clinicians that describes who is eligible and where to get additional support.
Publication Date:
2025-July-24

Exome Sequencing in Neurogenetics

Clinical Indication:
Neurogenetics
Audience:
Health care professionals
Description:
Quick reference sheet for ordering clinicians that describes who is eligible and where to get additional support.
Publication Date:
2025-July-23

Exome Sequencing – Information for Patients

Clinical Indication:
Rare and inherited conditions
Audience:
Patients and care partners
Description:
Quick reference sheet for patients that describes the test, possible results, and where to find more information.

Familial Hypercholesterolemia Implementation Guidance

Clinical Indication:
Familial hypercholesterolemia
Audience:
Health care professionals , Health system administrators
Description:
Recommendations for comprehensive, coordinated, evidence-based genetic testing for familial hypercholesterolemia
Publication Date:
2022-October-01

Hereditary Cancer Testing Eligibility Criteria

Clinical Indication:
Cancer
Audience:
Health care professionals
Description:
Genetic testing eligibility guidance for patients with personal and family history of cancer
Publication Date:
2024-September-30

Neurodevelopmental Disorders Genetic Testing Recommendations

Clinical Indication:
Neurodevelopmental disorders
Audience:
Health care professionals , Health system administrators
Description:
Eligibility guidance for evidence‐based genetic testing for people with neurodevelopmental disorders
Publication Date:
2024-November-01

Neuromuscular Disease Genetic Testing Recommendations

Clinical Indication:
Neurogenetics
Audience:
Health care professionals , Health system administrators
Description:
Recommendations for comprehensive, coordinated, evidence-based genetic testing
Publication Date:
2025-January-01

Pharmacogenomics Recommendations for Ontario

Clinical Indication:
Pharmacogenomics
Audience:
Health system administrators
Description:
Recommendations for the organization and implementation of pharmacogenomic services
Publication Date:
2024-October-01
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Last Updated: July 23, 2025

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