Health Technology Review

Health-Related Direct-Access Genetic Testing: An Environmental Scan of the Current Landscape in Canada

What Is Health-Related Direct-Access Genetic Testing?

• Health-related direct-access genetic testing refers to privately paid genetic testing intended to provide health-related information. It is accessed outside publicly funded testing pathways with or without the involvement of a health care professional.

• These tests may provide information regarding medication response, cancer risk, carrier status, risk for certain health conditions, or broader genomic findings. Concerns may arise when results are difficult to interpret or when they require clinical confirmation, counselling, or follow-up care.

What Did We Do?

• We conducted an environmental scan to identify health-related direct-access genetic testing products available in Canada. We also identified and summarized information on consumer motivations, experiences, and clinician readiness.

• We searched key resources, including journal citation databases, and conducted a focused internet search for relevant evidence published since 2016. One reviewer screened articles based on the scope of the review and narratively summarized the findings.

What Did We Find?

• We identified 33 unique health-related direct-access genetic testing products from 13 service providers. Of these, 16 products required clinician approval or ordering, 10 were direct-to-consumer (DTC) tests that could be accessed without clinician involvement, and 7 products used a hybrid-access model that allowed either consumer initiation or clinician requisition.

• Test products varied by types and intended use. DTC genetic testing mainly focused on pharmacogenomic testing, which provides information on how genetic variants may affect medication response. Clinician-required and hybrid-access services also included hereditary cancer testing, tumour genomic profiling, targeted gene panels, whole-exome sequencing (i.e., analysis of the protein-coding regions of the genome), and whole-genome sequencing.

• Seventeen of the 33 products reported some form of consultation or posttest support, such as genetic counselling, pharmacist consultation, or clinician-facing consultation.

• Individuals may seek these tests for various reasons, such as curiosity, medication guidance, disease risk information, or to address perceived gaps in the health care system. Consumers also reported concerns about unexpected findings and the related emotional distress, privacy, data security, and uncertainty about the clinical validity of results. Some people found results difficult to interpret and preferred professional support.

• Genetic specialists generally reported being confident in interpreting test results but may have limited resources or time to provide routine counselling. Primary care clinicians reported being less equipped to interpret results, even though patients frequently turn to them first for help after testing.

What Does This Mean?

• Test products varied in access pathway, intended use, consultation support, and cost. This may affect consumer experiences and support needs, particularly when information is unclear, interpretation is limited, or follow-up care is difficult to access.

• Primary care clinicians and other specialists without specialized training in genetics may need additional guidance or resources to assess test results and support patients who present these results during clinical care.

• Although these tests are privately paid, results may lead consumers to seek confirmatory testing, counselling, referral, or follow-up care within the public health care system. This may raise questions about resource planning, including how responsibilities are shared among commercial service providers, clinicians, and publicly funded services.

• Most evidence was identified from studies conducted outside Canada and focused on DTC genetic testing. Therefore, findings may not be fully applicable to clinician-required and hybrid-access testing models or to the Canadian context.

Context

Health-related direct-access genetic testing refers to privately paid genetic testing intended to provide health-related information to consumers. These tests are not covered by publicly funded health plans and are paid for directly by individuals (out of pocket or via private insurance). They allow individuals to obtain genomic information outside traditional clinical settings, with or without the involvement of a health care professional. They may provide information about medication response, inherited disease risk, carrier status, or tumour characteristics.

A growing range of health-related direct-access genetic testing services is available in Canada. For example, a 2023 report by CADTH identified multiple direct-access pharmacogenomic testing services for psychiatric disorders.¹ Pharmacogenomic testing provides information on how genetic variants may affect an individual’s response to medications (e.g., treatment effectiveness, risk of adverse effects).^2,3 However, the broader landscape of health-related direct-access genetic testing extends beyond pharmacogenomic testing. Services in this space vary widely in their intended uses, testing methods, access pathways, and costs.

Some aspects of health-related direct-access genetic testing may be subject to federal or provincial oversight, including privacy legislation, consumer protection laws, professional regulation, laboratory accreditation. The Genetic Non-Discrimination Act also protects against disclosure of genetic testing results in certain circumstances.⁴ However, Health Canada does not assess the clinical validity of tests or how test results are interpreted and used in clinical practice.^5,6 A clearer understanding of available services and consumers’ and clinicians’ perspectives may support health system planning as direct-access genetic testing continues to evolve. This Environmental Scan describes examples of health-related direct-access genetic testing available in Canada, including their intended uses, access pathways, consultation support, and costs. It also summarizes evidence regarding consumer motivations and experiences and clinician readiness to interpret and use test results to inform care.

Overview of Health-Related Direct-Access Genetic Testing

Delivery Models for Health-Related Direct-Access Genetic Testing

Health-related direct-access genetic testing services vary in the extent of health care professional involvement. In this report, services are grouped into 3 models:

• DTC model — An individual orders a test directly from a commercial company (typically online) without any involvement from health care professionals. The consumer receives results directly via an online portal.^2,3,6-8

• Clinician-required model — An individual initiates testing through a patient-facing facility, and the test requires ordering or approval by a clinician (i.e., physician or other health care professional).^2,5,9,10 The clinician may be the consumer’s treating clinician or a clinician affiliated with the testing company. Their role may range from administrative authorization to comprehensive clinical assessment, counselling, or follow-up. Because professional obligations are governed by provincial regulatory requirements, the nature and scope of clinician responsibilities may vary across jurisdictions.

• Hybrid-access model — An individual initiates testing either by ordering the test directly or through a requisition from a clinician, typically their treating clinician.

Although direct-access genetic testing is privately paid, consumers may seek public health care services for confirmatory testing, genetic counselling, specialist referral, or follow-up care after receiving results. This raises questions about responsibility for downstream care and the potential impact on public health care system resources.

Table 1 highlights the key differences between direct-access models and traditional clinical genetic testing. Hybrid-access services are grouped under the model matching their ordering pathway, as their level of clinician involvement depends on it. Some commercial services may also involve regulated health care professionals, accredited laboratories, or optional counselling, which can blur the distinction between direct-access and traditional clinical testing.

Table 1: Comparison of Direct-Access and Traditional Clinic-Based Genetic Testing

Note: These categories describe the main access pathway for genetic testing. Hybrid-access services are not presented separately because their level of clinician involvement depends on the ordering pathway (i.e., they function as direct-to-consumer or clinician-required testing depending on who initiates the test).

Test Categories and Interpretation Considerations

This report focuses on health-related direct-access genetic testing, including pharmacogenomic tests, cancer-related genetic tests (e.g., cancer predisposition tests and tumour genomic profiling), carrier screening, genetic health risk tests, and other tests using broad genomic sequencing technologies. These test categories vary in their intended purposes, limitations, and clinical considerations. Further details are provided in Appendix 1.

Several factors affect how test results should be interpreted. Testing methods vary from targeted assessment of selected known variants to broader genomic sequencing approaches.^3,13 These methods differ in analytical validity (accuracy of variant detection), clinical validity (ability to predict health outcomes), and clinical utility (whether results can inform health care decisions).¹⁴ Therefore, broader genomic coverage does not necessarily indicate greater clinical value. Potentially actionable results may require confirmation in a certified clinical laboratory before being used to guide care.^3,13 Interpretation of results may be limited by the variants included, the evidence supporting the reported risk estimate, differences in company-specific interpretation criteria, and the representativeness of reference datasets.^15,16 These limitations may be particularly important for people from populations underrepresented in genomic research.^15,16 Variable test performance, interpretability, and clinical utility across populations may affect who benefits from testing and who experiences uncertainty, unnecessary follow-up, or potential harms, which can lead to equity concerns. Additional context on testing methods and interpretation considerations is provided in Appendix 1.

Objectives

The purpose of this Environmental Scan is to provide an overview of the current landscape regarding health-related direct-access genetic testing services in Canada. It also summarizes available evidence on consumer motivations and experiences and clinician readiness. The report addresses the following questions:

1. What health-related direct-access genetic testing products and services are available in Canada?

   • What tests are available?

   • How are these tests accessed?

   • What are the costs of these tests (out of pocket or private insurance coverage)?

2. What evidence exists regarding individuals’ reasons for seeking these tests and their experiences?

3. What evidence exists regarding the perceived readiness of health care professionals, including clinicians and genetic counsellors, to interpret test results and integrate them into patient care?

Approach

We conducted a literature-based Environmental Scan to summarize information regarding health-related direct-access genetic testing. Information was identified through targeted searches of company websites and other online sources, as well as a customized search of published and grey literature. A detailed summary of methods is available in Appendix 2.

This report is not a systematic review and does not involve critical appraisal or include a detailed summary of study findings. It is not intended to provide recommendations for or against the use of health-related direct-access genetic tests.

A draft version of this Environmental Scan was reviewed by 1 clinical expert with expertise in genetic testing and precision medicine.

Summary of Findings

Health-Related Direct-Access Genetic Testing Products Available in Canada

A total of 33 unique health-related direct-access genetic testing products available in Canada were identified across 13 service providers.^17-43 Of the 13 service providers, 10 were based in Canada^{17-37,39,40,42} and 3 were based in US.^38,41,44 Table 2 presents characteristics of these tests. The list was not intended to be a comprehensive inventory of all available products or services in Canada.

Delivery Models

Of the 33 products identified:

• 16 required clinician approval or ordering^{19,29,33,36-41,43}

• 10 were DTC^{17,18,20,21,27,28,31,32,34,35}

• 7 were hybrid access accepting both consumer initiation and clinician requisition.^22-26,30,42

Access pathways varied even among the 16 clinician-required products:

• 10 required ordering by a physician^19,36,39,40

• 5 required ordering by a health care professional, without specifying that this professional must be a physician^{29,33,37,38,41}

• 1 used a research-mediated pathway, in which a clinician in the study team placed the test order.⁴³

Scope of Tests

The intended use and test scopes varied widely. Pharmacogenomic testing was the most common test type; of the 33 unique test products, 17 were pharmacogenomic tests.^{17,18,20,21,26,27,29-35,38,39,41,42} They were marketed for medication management across therapeutic areas such as psychiatry, pain, cardiovascular disease, oncology, and gastroenterology.

The types of test products differed by delivery model. DTC services primarily offered pharmacogenomic testing,^{17,18,20,21,27,31,32,34,35} with the remaining DTC product being a genetic health risk test focused on brain health and mental wellness.³¹ Products requiring clinician approval included pharmacogenomic testing, hereditary cancer predisposition testing, and tumour genomic profiling.^{19,29,33,36-41,43} Hybrid-access services more commonly included broad genomic testing, such as whole-exome sequencing (i.e., analysis of protein-coding regions of the genome), whole-genome sequencing, mitochondrial genome sequencing, and targeted gene panels, in addition to pharmacogenomic testing.^22-26,30,42

Integration of Counselling and Support Services

Consultation support varied across delivery models and included genetic counselling, clinician consultation, pharmacist consultation, clinician-facing consultation, or general customer support. These forms of support involve different professional competencies, regulatory obligations, and standards of care and should not be considered equivalent. Of the 33 products, 17 reported some form of consultation or posttest support: ^{17-26,28,29,37,38,41-43}

• Clinician-required model — Six of 16 products^{29,36-38,41,43} included support (e.g., posttest genetic counselling, clinician-facing consultation, pretest education, or optional paid counselling).

• DTC model — Five of 10 products^{17,18,20,21,28} included posttest consultation at no additional cost, most commonly pharmacist counselling for pharmacogenomic testing.

• Hybrid model — Six of 7 products^22-26,42 included pretest or posttest counselling support.

When commercial testing services provide limited result interpretation or follow-up support, consumers may seek confirmatory testing, genetic counselling, specialist referral, or ongoing management through the public health care system. These downstream services are not reflected in the initial out-of-pocket cost of testing and may have resource implications for public health care systems. This may be particularly relevant for DTC testing, in which consumers initiate the test without clinician involvement. People with limited access to primary care, genetics services, or other follow-up support may face greater challenges obtaining timely and reliable interpretation.

Cost

Costs were reported for 25 of the 33 unique test products.^17-38,41-43 Reported prices ranged from $199 for APOE genotyping to $4,825 for comprehensive tumour profiling. Costs ranged from $349 to $599 for most DTC pharmacogenomic tests;^{17,18,20,21,27,31,32,34,35} broad sequencing services and tumour profiling were generally more expensive.^{22,24,25,36,37}

Most services required out-of-pocket payment, although 1 service provider noted that its pharmacogenomic test may be covered by some commercial insurance plans.⁴²

Among the 17 products offering consultation support:

• 13 products included at least 1 support service at no additional cost^{17,18,20-26,42,45,46,54}

• 1 product offered optional support for an additional fee¹⁹

• 3 products did not report the cost of consultation support.^29,38,41

Because most genetic testing services are privately paid, affordability may influence who can access testing and related support. This may create differential access to genomic information and subsequent follow-up care based on a person’s ability to pay. This, in turn, may raise equity concerns within the public health care system.

Table 2: Examples of Health-Related Direct-Access Genetic Testing Products Available in Canada

ADHD = attention-deficit/hyperactivity disorder; ctDNA = circulating tumour DNA; DTC = direct to consumer; MALDI-TOF = matrix-assisted laser desorption – ionization time of flight; NGS = next-generation sequencing; OCD = obsessive-compulsive disorder; PTSD = posttraumatic stress disorder.

Note: Information presented in this table was based on published literature and a review of service providers’ websites and may not reflect the most recent versions of these genetic tests. Service providers were not contacted directly to verify this information. A product was classified as hybrid access if the providers’ materials indicated it could be purchased directly by consumers or ordered through a clinician requisition form. Costs were reported in the original currency.

^aFull gene, biomarker, or medication lists, when reported, are available in the cited providers’ materials.

^bLaboratory-developed test not approved by Health Canada.

^cInvitae services are available in Canada through an individual’s health care clinician or by enrolling in the Screen Project in which the ordering clinician serves as a research investigator.

^dOncoHelix cancer genomic profiling panels were grouped together because they shared the same provider, delivery model, broad clinical purpose, and service characteristics.

Consumer Perspectives on DTC Genetic Testing

Reasons for Seeking DTC Genetic Testing

Across the identified studies, reasons reported for seeking DTC genetic testing included:^15,54,67-70

• identifying predispositions for asymptomatic conditions

• seeking explanations for current health conditions

• determining treatment response to specific medications

• informing reproductive decision-making (carrier status for genetic diseases)

• satisfying curiosity regarding personal genomics.

These motivations suggest that some consumers view DTC genetic testing as a way to access personal health information more directly and exercise greater health autonomy. For these consumers, testing was not a substitute for clinical care.

Some people also used DTC genetic testing because of perceived gaps in the health care system. Qualitative studies conducted outside Canada indicated that individuals sometimes used DTC tests when they felt their health concerns had not been fully addressed by health care professionals.^15,71-73 For these people, DTC testing may be perceived as a way to obtain additional information, identify a possible explanation for symptoms, or inform next steps in care.⁷⁴

Access barriers to publicly funded genetic testing services may also lead some individuals to seek DTC genetic testing. In 1 European study, genetic counsellors suggested that individuals may seek these private tests to avoid long wait times, bypass restrictive eligibility criteria in public health care systems, or access a more convenient testing pathway.⁶⁹ These issues may also be relevant in Canada, where access to publicly funded genetic testing may be affected by wait times, genetics workforce capacity, variation in testing availability across jurisdictions, and eligibility criteria.⁵⁴ A Canadian study of DTC BRCA1/2 testing indicated that some individuals turned to DTC testing after being unable to access publicly funded BRCA1/2 testing because they did not meet local eligibility criteria.⁵⁴

Consumer Experiences and Perceived Utility

Evidence from these studies suggested that consumers often anticipated DTC genetic testing results to be personally meaningful and actionable. Before testing, they generally hoped to gain insights that would inform health behaviour changes, such as dietary adjustments, tailored exercise plans, or sharing information with family members about potential inherited risks.⁷³

The perceived posttest utility may depend on the clinical relevance of the findings. Qualitative studies suggested that some users reported feelings of empowerment, validation, and “relief” when results aligned with or explained their health status.⁷⁴ This perceived utility may lead to behavioural change (e.g., diet change).⁶⁸ In contrast, perceived utility may be limited when results did not provide clear next steps, lacked actionable implications, or did not align with the consumer’s personal health goals, which may lead to disappointment.⁷⁴

Consumer Concerns

Unexpected High-Risk Findings and Related Psychological Effects

Some consumers experienced worry, confusion, distress, or regret after receiving unexpected results or results that were difficult to interpret.^68,73 This often occurred when results suggested high risk for certain conditions, were not confirmed by clinical testing, or were received without counselling to help consumers understand their potential impact on themselves and their families.^68,73 A report on community perspectives on genetic testing in Canada also found that genetic information may have psychological, familial, and social implications, highlighting the importance of adequate counselling and support.⁷⁵

Privacy and Data Security

Consumers reported concerns about data breaches and the unauthorized sharing or sale of genetic information to third parties. Privacy concerns may also include secondary uses of genomic data, commercial partnerships, cross-border data transfers, and future uses that may not have been anticipated at the time of testing.^68,73 Legal protections for privacy vary depending on where the testing provider operates and where genomic data are stored.⁷⁶ Although the Genetic Non-Discrimination Act provides some protections against requiring genetic testing or disclosure of results, discrimination concerns may continue to influence consumer decision-making.⁷⁷ Perspectives from communities in Canada on genetic and genomic biomarker tests are also reported to include concerns about privacy, data governance, and trust.⁷⁵ These considerations highlight the need for transparent communication about how testing results and related data are used, stored, and protected.

Uncertainty About the Validity of Commercial Testing

Some consumers were concerned about the reliability of commercial test results. They were uncertain whether findings were accurate and comparable to those produced by clinical laboratories.^68,73

Need for Professional Support and Clear Information

Studies also identified unmet consumer needs for professional support. Consumers sometimes reported difficulty interpreting results, particularly uncertain findings, probabilistic risk estimates, or results generated through third-party interpretation of raw genetic data.⁷³ Studies from Europe and Australia suggested that many consumers preferred some level of health care professional involvement, even when they were interested in DTC testing.⁷⁰ A systematic review found that the proportion of consumers who shared DTC genetic testing results with a health care professional ranged widely, from 1% to 57% (median = 30%).^8,70 These consultations often focused on result interpretation, family history, and next steps in care.

The need for professional support may also be influenced by the quality of information provided by test providers. Studies of DTC genetic testing websites and test reports found that information may be incomplete, difficult to understand, or more focused on potential benefits than risks and limitations.^73,78 This may make it challenging for consumers to distinguish clinically significant findings from less actionable or uncertain results, such as risk estimates for multifactorial conditions.^73,78 Perspectives from communities in Canada on genetic testing are also reported to include limited public understanding of DNA and precision medicine. This highlights the importance of clear information about test purpose, potential benefits, and limitations.⁷⁵

Clinician Readiness

Clinician readiness is important because health care professionals may become involved after testing, when individuals seek help interpreting results. They may also be involved before testing, when clinician ordering or approval is required. However, the identified evidence mainly focused on posttest consultations following DTC genetic testing.

Experience Supporting Patients With DTC Genetic Testing Results

Experiences with DTC genetic tests and related follow-up varied across professional groups. Genetic specialists, including genetic counsellors and medical geneticists, commonly reported supporting patients who sought help with DTC genetic testing results:

• In Canada, 84% of surveyed genetic counsellors reported experience with patients who had pursued DTC genetic testing.⁴

• In the US, 76% of surveyed genetic counsellors had received questions about DTC genetic testing, and 40% had provided consultations specifically to review patients’ test results.¹⁵

Primary care clinicians may have limited experience with DTC genetic testing. A systematic review found that 17% of primary care clinicians in the US had experience with patients presenting DTC testing results compared to 58% of genetic specialists.⁷⁹ A 2016 study found that primary care providers in Alberta and Ontario had “infrequent” DTC genetic testing–related encounters, although the study did not report specific figures.⁸⁰ Nevertheless, primary care may serve as an initial point of contact for consumers seeking help with DTC genetic testing results. Studies from the US and Australia suggested that some patients brought DTC genetic test results to primary care clinicians, who then, in some cases, referred them to genetics services.¹⁵

Readiness to Support Patients With DTC Genetic Testing Results

Genetic Specialists

Genetic counsellors and clinical geneticists may be equipped to support patients with DTC genetic test results because of their training in genetics and psychosocial counselling.⁴ Studies in Canada and the US suggested that genetic counsellors reported high confidence in providing consultation for individuals who used DTC genetic testing. Such a consultation would include explaining the need for confirmatory clinical-grade testing, distinguishing clinical-grade from single-nucleotide polymorphism-based testing, and discussing the validity of third-party interpretation reports.^4,81

For genetic specialists, the main challenge may be limited service capacity rather than readiness to interpret results. In a survey conducted in Canada, approximately 56% of genetic counsellors believed patients who sought DTC genetic testing were within their professional scope.⁴ However, approximately 92% considered it infeasible to offer pretest and posttest counselling for individuals using DTC genetic testing due to limited capacity.⁴ Many of the surveyed genetic counsellors in Canada also believed that DTC genetic testing companies should be responsible for providing counselling rather than publicly funded services.⁴ A statement from the Canadian Association of Genetic Counsellors noted that genetic counsellors were equipped to provide pretest and posttest counselling for DTC genetic testing; however, access to provincially funded counselling for such tests may be unavailable or very limited.⁷ These findings raise questions about whether and how publicly funded genetics services should support interpretation of privately obtained genetic testing, particularly given existing workforce constraints.

Primary Care Clinicians and Other Specialists Without Specialized Genetics Training

Some primary care providers and other clinicians without specialized training in genetics have reported limited confidence and preparedness to support patients with DTC genetic testing results.^8,82,83 The identified barriers included the following:^8,84

• Lack of time — Clinicians may not have sufficient time during routine appointments to review complex genetic reports, assess family history, explain uncertainty, and discuss potential next steps with patients.

• Limited genetics knowledge — Some clinicians reported limited training in genetics and genomics. This may affect their confidence in accurately interpreting DTC genetic testing results or explaining the differences between commercial and clinical genetic testing.

• Uncertainty about the clinical utility of DTC genetic testing — Some clinicians were uncertain whether DTC genetic testing results were clinically meaningful or actionable, particularly when tests assessed variants with limited evidence or reported probabilistic risk estimates.

• Limited practice guidance — Some clinicians reported the need for clearer guidance on when confirmatory testing was needed, when referral to genetics services was appropriate, and how results should be incorporated into care.

• Concern about patient anxiety — Some clinicians were concerned that discussing uncertain results could increase patient anxiety, particularly when the results did not clearly inform care.

According to the clinical expert consulted for this review, clinician readiness may depend not only on genetics knowledge and education, but also on clear professional roles and expectations. Health care clinicians may face uncertainty about their professional responsibilities, potential liability, and applicable standards of care. They may also be unsure about the extent to which they are expected to interpret or act on results generated outside established clinical pathways.

Clinical guidance for physicians and other health care professionals managing DTC genetic testing results has been published by Canadian and international professional organizations and health authorities, including Canadian Medical Association, British Columbia Ministry of Health, Canadian College of Medical Geneticists, and professional organizations in the US and UK.^2,5,13,85-89 However, a systematic review identified potential gaps in health care providers’ knowledge and preparedness to review and manage testing results, particularly among those without specialized genetics training.⁷⁹ The review included studies from multiple countries, including Canada. Additional education, resources, referral pathways, and clearer guidance on clinician roles and responsibilities may help clinicians better support patients with DTC genetic testing results.⁷³

Evidence Gaps

Several evidence gaps in the identified literature should be considered when interpreting these findings.

Current evidence on consumer perspectives and clinician readiness focused on DTC genetic testing. No studies relevant to clinician-required or hybrid-access pathways were identified. It remains unclear whether consumer experiences differ when testing involves clinician ordering, approval, or counselling. It is also uncertain whether clinicians who order or approve consumer-initiated genetic tests are prepared to assess their quality, validity, and utility before the test is performed or to provide posttest counselling.

Most studies described consumer perspectives or clinician readiness in broad terms rather than by test type. It is unclear how consumer motivations, interpretation needs, and clinician readiness may differ across test types — including pharmacogenomic testing, cancer risk testing, carrier screening, tumour genomic profiling, and broad genomic sequencing.

Most studies assessing consumer perspectives included participants who may represent early adopters of DTC genetic testing. They often had relatively high education, income, or health literacy.^15,73,90,91 Therefore, the findings may not reflect the experiences of people who face greater barriers to accessing these tests, understanding genetic test results, or obtaining follow-up support. This may include:

• people with lower health literacy

• people with limited access to primary care or genetics services

• people living in rural or remote communities

• people with lower incomes

• populations underrepresented in genomic research.

Existing evidence for some genetic and genomic tests is based largely on data from individuals of European ancestry;⁹² therefore, risk estimates and variant interpretation may be less accurate or less generalizable for other ancestry groups. However, no evidence was identified regarding how these factors may affect consumer experiences or follow-up needs in direct-access genetic testing.

Conclusions and Implications for Decision- or Policy-Making

This Environmental Scan aimed to provide an overview of health-related direct-access genetic testing products available in Canada. It also summarizes the evidence regarding consumer perspectives and clinician readiness. We identified 33 unique testing products from 13 service providers. These tests varied widely in access pathway (DTC, clinician required, or hybrid), intended use, and test scope (e.g., pharmacogenomic, hereditary cancer, whole-genome sequencing), consultation support, and cost ($199 to $4,825).

The available evidence regarding consumer perspectives focused mainly on DTC genetic testing conducted outside Canada. People sought these tests for reasons such as curiosity, medication guidance, and disease risk information. Some also sought testing when they felt their health concerns remained unresolved by their treating clinicians. Some found results useful, while others reported difficulty interpreting results, particularly when unexpected findings were identified. According to the literature, genetic specialists may be better prepared to interpret results but may have limited capacity to provide routine counselling for these commercial tests and primary care providers may be less prepared despite often being the first point of contact for patients seeking help after testing.

These findings raise several considerations for decision-makers. Test scope, access pathways, consultation support, and cost varied widely across products. This variation may make it difficult for consumers and clinicians to assess test quality, clinical relevance, and follow-up needs. Additional guidance may be useful on how clinicians should respond when patients bring direct-access genetic test results into care, as well as on confirmatory testing, genetic counselling, and referral pathways. Although these tests are paid for privately, clinically actionable or uncertain findings may lead consumers to seek follow-up care within the public health care system. This may affect resource planning and highlights an opportunity to clarify roles and responsibilities among commercial providers, clinicians, and publicly funded services. These considerations are particularly relevant in Canada, where privacy, professional regulation, laboratory oversight, and health care delivery are governed through different federal and provincial frameworks.

Equity is also an important consideration. Because most services are paid out of pocket, a person’s ability to pay may affect access to testing, related support, and follow-up care. People with limited access to primary care, genetics services, or other follow-up care may face additional barriers to reliable result interpretation. In addition, test performance and result interpretation may be less accurate or generalizable for populations underrepresented in genomic research and reference datasets, many of which are based largely on people of European ancestry. Further evidence is needed on consumer experiences and clinician readiness in Canada, particularly for health care professionals in Canada without specialized training in genetics, clinician-required and hybrid-access delivery models, and populations underrepresented in genomic research.

Acknowledgement

Ma’n H. Zawati, LLB, LLM, PhD (DCL), Associate Professor, Research Director, Centre of Genomics and Policy, Department of Human Genetics, McGill University, Montreal, Canada

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Appendix 1: Direct-Access Genetic Testing Access Test Categories, Test Methods, and Result Interpretation Considerations

Please note that this appendix has not been copy edited.

Test Categories of Health-Related Direct-Access Genetic Testing

Table 3 summarizes the purposes, key limitations, and clinical considerations associated with main test categories of health-related direct-access genetic testing.

Table 3: Main Categories of Health-Related Direct-Access Genetic Testing

DTC = direct-to-consumer; SNP = single-nucleotide polymorphism

^aSome DTC tests for genes such as BRCA1/2 only assess a small number of variants (e.g., Ashkenazi Jewish founder mutations) and may miss other pathogenic variants.⁹²

Testing Methods Used in Health-Related Direct-Access Genetic Testing

Direct-access genetic testing uses a range of genomic testing methods to identify variants. The method used affects what variants can be detected and how results should be interpreted. Many DTC tests use single-nucleotide polymorphism microarrays, which assess selected known variants rather than comprehensively sequencing genes.³ Other tests, particularly those requiring clinician involvement, may use targeted next-generation sequencing, whole-exome sequencing, and whole-genome sequencing, which provide broader coverage but also generate more uncertain findings and require more complex interpretation.³

These methods vary across 3 distinct concepts: analytical validity, clinical validity, and clinical utility. Analytical validity refers to how accurately a test identifies a specific genetic variant.¹⁴ Clinical validity refers to how well a result predicts a health outcome.¹⁴ Clinical utility refers to whether using the result can improve health-related decisions or outcomes.¹⁴ A variant may be detected accurately, but its association with disease risk may not be well established in certain populations. Similarly, a finding may be clinically relevant but not actionable without confirmatory testing or counselling. For this reason, broader genomic coverage does not necessarily lead to greater clinical value. Potentially actionable commercial results may still require confirmation in a certified clinical laboratory before they are used to inform medical care.^13,88 Table 4 summarizes the main testing methods used in health-related direct-access genetic testing.

Table 4: Main Testing Methods Used in Health-Related Direct-Access Genetic Testing

SNP = single-nucleotide polymorphism; WES = whole-exome sequencing; WGS = whole-genome sequencing.

^aSNP arrays typically assess selected variants associated with disease risk at the population level rather than comprehensively identifying disease-causing variants. Without appropriate clinical context, these associations may not be clinically meaningful for an individual.⁹⁵

Key Considerations When Interpreting Results

Most direct-access genetic testing services typically provide consumers with a report interpreting the test results, with or without post-test counselling. Several factors may affect the interpretation and clinical utility of the results.

First, many direct-access tests assess only a limited set of relevant variants. As a result, a negative result generally means only that the tested variants are not identified. It does not rule out the condition or a genetic predisposition.³

In addition, results for the same disease or condition may vary across companies because different test products may analyze different variant sets, use different assay designs, and apply different interpretation criteria.^3,13 These criteria may also change as new scientific evidence emerges.

Furthermore, some consumers use third-party interpretation services to analyze raw data files. These services may rely on public databases that contain outdated, incomplete, or inaccurate variant classifications, increasing the risk of misinterpretation.¹⁵ Confirmatory testing is often needed before these findings guide care, particularly when results are clinically actionable or affect treatment, screening, or family risk assessment. However, confirmation requirements vary depending on the nature of the finding, intended use, and laboratory standards. For example, the National Comprehensive Cancer Network recommends confirmatory germline testing through a certified clinical-grade laboratory when potentially pathogenic variants are identified by commercial entities.⁸⁸

The predictive performance of direct-access may be limited for individuals from populations underrepresented in the reference databases used to create risk models and interpret variants. Most genome-wide association studies and reference datasets have been developed largely from people of European ancestry.^15,16 This bias can reduce the generalizability of risk estimates for other ancestry groups.^15,16 As a result, population-specific pathogenic variants may be missed in testing panels, risk estimates may be less accurate, and uncertain findings may be more common in underrepresented groups. For example, some BRCA1/2 genetic health risk tests assess only selected variants, including founder mutations that are more common in specific populations (e.g., Ashkenazi Jewish).⁹² Because these reports are not comprehensive, they may miss other clinically relevant variants, particularly in individuals from different ancestral backgrounds.⁹²

Commercial genomic testing may also rely on proprietary algorithms or AI-supported tools for variant interpretation or risk prediction.⁹⁸ These approaches can create uncertainty when the model, input variants, validation populations, or risk thresholds are not clearly described or externally validated.⁹⁹ Because genomic knowledge and variant classifications evolve over time, it is also important to consider whether companies update interpretations and notify consumers or clinicians when results are updated.¹⁰⁰

Appendix 2: Detailed Methods

Please note that this appendix has not been copy edited.

Scope of the Environmental Scan

This Environmental Scan included health-related direct-access genetic testing available to individuals in Canada. Direct-access was defined as testing that could be accessed outside publicly funded clinical pathways. This included DTC testing that could be initiated without clinician involvement, private testing that required clinician ordering, approval, or involvement, and hybrid services that supported both access pathways. The report focused on tests intended to provide health-related information, including pharmacogenomic tests, disease risk gene panels, and other medical genetic tests.

Prenatal and preimplantation genetic testing are beyond the scope of this report. Although they are within the broader landscape of health-related genetic testing, they involve distinct clinical pathways and complex ethical and equity considerations that require separate assessments. The scope of the report also does not include tests used for ancestry, genealogy, personal traits, or general wellness purposes (e.g., genetically tailored diet or exercise plans). Some commercial providers combine ancestry and health-related testing or use the same genomic data for multiple purposes. Health-related direct-access genetic testing offered by providers that also offer ancestry testing was not included because the related governance, consent, privacy, and secondary-use issues were outside the scope of this report.

Search of Health-Related Direct-Access Genetic Testing Available in Canada

One reviewer searched the websites of candidate test providers identified from a 2023 CDA-AMC report on pharmacogenomic testing for psychiatric disorders.¹ For each provider, the reviewer searched the company website for both pharmacogenomic and other health-related genetic testing products available to consumers in Canada.

To identify additional pharmacogenomic testing not captured in the 2023 CDA-AMC report and other health-related genetic testing services, the reviewer also conducted targeted internet searches using Google and searched 1 online retailer, Amazon. Search terms included combinations of the following: direct-to-consumer DNA, home DNA, DNA test kit, pharmacogenomic test, gene panel, genetic test, and genome sequencing. The searches were completed on March 13, 2026. For each search, the first 5 pages of results were screened.

Literature Search

Search Strategy

An information specialist conducted a literature search on key resources including MEDLINE, Embase, the Cochrane Database of Systematic Reviews, the International HTA Database, the websites of health technology assessment agencies in Canada and major international HTA agencies, as well as a focused internet search. The search approach was customized to retrieve a limited set of results, balancing comprehensiveness with relevance. The search strategy comprised both controlled vocabulary, such as the US National Library of Medicine’s MeSH (Medical Subject Headings), and keywords. Search concepts were developed based on the elements of the research questions and selection criteria. The main search concepts were genetic tests and direct-to-consumer products. Conference reviews, conference abstracts, and ClinicalTrials.gov records were excluded from the first search. A second search was conducted in Embase for conference reviews and conference abstracts only. The searches were completed on March 13, 2026. The first search was limited to English-language documents published since January 1, 2016; the second search was limited to English-language documents published since January 1, 2021. Internet links were provided, where available. The search strategy is available on request.

Screening and Study Selection

One reviewer screened and selected potentially eligible studies from search results of the published and unpublished literature. The reviewers used Covidence software to screen. Results within the scope of this Environmental Scan were summarized. Grey literature publications were included when they provided additional information to that available in the published studies.

Peer Review

A draft version of this Environmental Scan was reviewed a clinical expert with expertise in genomics and precision medicine.