Bridging the Gap: How Patient Advocacy is Shaping Access to Medications in Canada

Provincial Implementation

Because healthcare is a provincial responsibility, access to and funding for genetic testing differs widely:

British Columbia: Offers publicly funded pharmacogenetic testing (e.g., Pillcheck) and supports integration into family practice.

Ontario: Ontario Health is exploring the provincewide implementation of pharmacogenomics (PGx) testing.

Quebec: A leader in genomic medicine, Quebec provides access through designated genetics clinics.

What Patients Should Know

Coverage and access vary—ask your provider what is available in your province. Some tests are only covered if you meet certain clinical criteria.

Patients may face long wait times or need to advocate for access.

Patient Perspective

Many patients are surprised to learn that they must travel outside their region or pay out-ofpocket for tests available in other provinces. This can cause significant inequity, especially for rural, Indigenous, and lower-income populations. Patients consistently advocate for a national genomics strategy to ensure standardized, equitable access.

The Patient Journey Deciding to Test

The decision to pursue genetic testing should never be taken lightly. Patients are encouraged to: Reflect on their goals (e.g., risk prevention, diagnosis, treatment selection).

Discuss the options thoroughly with a healthcare provider. Consider emotional readiness for potentially life-altering information.

For patients, informed decision-making is central. This means understanding the test, possible outcomes, implications, and alternatives. If you feel rushed or unclear, request additional time and information.

Informed Consent and Counseling

Pre-test counselling helps patients understand:

Scope of Testing: What the test can and cannot reveal. For example, a negative BRCA test doesn’t mean you are risk-free; it may simply mean a mutation wasn’t detected.

Secondary Findings: Some tests may uncover unexpected information, such as predisposition to diseases not initially under consideration.

Family Implications: Genetic information is shared with family. You may feel responsible for informing relatives who may also be at risk.

Bridging the Gap: How Patient Advocacy is Shaping Access to Medications in Canada

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Privacy & Security: Understand how your data is stored, who has access to it, and whether it will be used in research.

Emotional Preparation: Anticipate anxiety, relief, or grief. Genetic counsellors are trained to help you navigate this emotional terrain.

Receiving and Interpreting Results

Results can be complex, and interpretation must occur in a clinical context:

Positive Result: Indicates presence of a pathogenic variant. May prompt changes in treatment or screening.

Negative Result: Indicates no known variant, but not a guarantee of no risk. Surveillance may still be warranted.

Variants of Uncertain Significance (VUS): These are changes in DNA with unknown implications. May require periodic re-evaluation.

Post-Test Considerations

After testing, many patients are left wondering, "What's next?" Here are some considerations:

Specialist Referrals: Depending on the results, you may need to follow up with an oncologist, cardiologist, or other specialists.

Psychological Impact: It's normal to feel a range of emotions. Seek mental health support or join a patient group.

Family Communication: Decide how and when to share information with family members.

Genetic counselors can assist with this.

Lifestyle Adjustments: Based on risk, some patients choose preventive surgeries, early screening, or lifestyle changes.

Privacy and Ethical Considerations

Data Security

Patients should be informed about:

Storage Location: Is the data stored in Canada or internationally?

Third-Party Access: Will insurers, employers, or researchers access it?

Consent for Research Use: Are you comfortable with your anonymized data being used in research?

Bridging the Gap: How Patient Advocacy is Shaping Access to Medications in Canada

Legal Protections

The GNDA provides protection, but there are gaps:

Life & Disability Insurance: May still be affected by genetic information. Consider obtaining coverage before testing.

Workplace Policies: Some private employers may not be fully informed of the GNDA.

Ethical Dilemmas

Obligation to Inform Family: Should you notify relatives if you discover a hereditary risk?

Children and Genetic Testing: Should minors be tested for adult-onset diseases?

Health Equity: Many new tools are less effective for non-European ancestry groups, raising ethical concerns around fairness.

Patient Perspective

Costs and Coverage

Public and Private Funding

Public Programs: Diagnostic tests for cancer or rare diseases often covered.

PGx Testing: Covered in BC, limited in other provinces.

DTC Testing: Typically out-of-pocket, ranging from $200–$700.

Insurance Coverage

Extended Health Benefits: Some plans reimburse PGx or DTC testing.

Health Spending Accounts: May be used for test costs.

Patients often express frustration over the high cost of valuable tests not covered by provincial plans. There is a strong call for expanded coverage, especially when tests can prevent costly hospitalizations or improve treatment efficacy.

Emerging Trends in Canada

Point-of-Care Testing

Programs like the RAPID GENE study at the Ottawa Heart Institute allow for immediate genetic testing in clinical settings. For example, patients undergoing heart procedures are tested for genes that affect medication metabolism, allowing for instant adjustments.

Artificial Intelligence (AI)

AI is increasingly used to interpret genetic data, find patterns, and assist in clinical decisionmaking. While promising, patients should understand that algorithms are only as good as the data upon which they are built, which often excludes minority populations.

Polygenic Risk Scores

PRS aggregate small effects from many genes to provide risk estimates. Patients should ask about the accuracy of these scores in their ethnic group, as PRS are less accurate for nonEuropean populations.

National Strategy Development

There is momentum building for a National Genomics Strategy. Patient advocacy groups are pushing for standards, consistent access, and transparency. Your voice can influence policy.

Bridging the Gap: How Patient Advocacy is Shaping Access to Medications in Canada

Key Questions Patients Should Ask

Before, during, and after testing, ask:

What exactly is this test looking for?

How accurate and reliable are the results?

What will happen if something unexpected is found?

How will this affect my treatment or medications?

Who will have access to my genetic data?

Will this affect my insurance?

Should my family be tested as well?

Resources for Canadian Patients

Canadian Cancer Society: Offers tools and information about inherited cancer. Genetics Education Canada: Patient-friendly resources about genetic conditions.

Privacy Commissioner of Canada: Learn about your rights and how your data is protected.

Canadian College of Medical Geneticists: Lists certified genetics professionals.

Provincial Health Services: Each province has its own genetic services directory.

Genetic testing is no longer the domain of rare disease diagnostics or elite cancer centers. It is becoming a routine part of modern healthcare, opening doors to proactive, personalized, and precise interventions. But with this progress comes responsibility for clinicians, policymakers, and most importantly, patients.

As a patient in Canada, you are your own best advocate. Stay informed, ask questions, demand transparency, and ensure that your values guide your healthcare decisions. Genetic testing can empower you with knowledge, but only if you understand its possibilities, limitations, and implications.

In the spirit of patient-centred care, let us move forward not just with cutting-edge science but with compassion, equity, and informed consent at every step of the journey.