Readiness to Consider and Adopt Genetic and Genomic Tests in Canada—An Update to the State of Readiness Report

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

In this article, the authors reported an updated assessment of health system readiness for the adoption of genetic and genomic testing across Canadian provinces, building on the authors’ previous 2023 report. Using a mixed-methods approach that combined a narrative literature review with semi-structured interviews (n=36), the authors evaluated readiness based on a predefined framework of conditions spanning infrastructure, operations, and healthcare environment domains. They concluded that Canada remains only partially prepared for the widespread implementation of genomic medicine, although incremental progress has been made. Key strengths include the establishment of service delivery models and the integration of innovation into healthcare systems, whereas major gaps persist in information integration, health technology assessment (HTA) processes, funding mechanisms, and stakeholder engagement. This is a timely and policy-relevant manuscript addressing an important issue in the implementation of genomic medicine. The nationwide scope and comparison across provinces are notable strengths. However, several methodological and interpretative aspects require clarification and further development to support the validity and impact of the conclusions.

 

Major Comments

1. While the study was based on a predefined framework of readiness conditions, the process used to classify each province into “established”, “partially established”, or “needs improvement” was not sufficiently described. It is unclear whether the classification was based on qualitative judgment, predefined scoring thresholds, or a structured evaluation rubric. No information was provided regarding whether different conditions were weighted equally.
2. The manuscript relied heavily on semi-structured interviews; however, the reporting of qualitative methods was limited. The justification for purposive sampling was not sufficiently elaborated. Data saturation was not discussed. Coding and analytical procedures are not clearly described. All interviews were conducted and analyzed by a single investigator, which may introduce bias.
3. The manuscript provided a system-level evaluation but does not clearly connect readiness to downstream outcomes. There was no discussion of how readiness impacts clinical outcomes (e.g., diagnostic yield, access to testing). Operational metrics such as turnaround time or implementation efficiency were not addressed.
4. The comparison across provinces is a key contribution; however, the basis for comparison (qualitative vs. quantitative inputs) is not clearly defined. It is unclear how variability in data sources across provinces may influence conclusions. Potential reporting bias (e.g., differences in interview representation) is not addressed.
5. The manuscript identified limitations in HTA processes across provinces, but the discussion lacks depth. The implications of non-transparent or slow HTA processes were not fully explored. Comparisons with established systems (e.g., NHS or other international frameworks) are limited.

 

Minor Comments

1. Terms such as “genomic testing”, “genetic testing”, and “advanced testing” are used interchangeably. These should be clearly defined and used consistently.
2. The manuscript would benefit from a clearer explanation of how the listed conditions were operationalized in this study.
3. Figure 1 summarizing readiness across provinces should be more explicitly described in the main text to aid interpretation.
4. The limitations section should more explicitly address reliance on qualitative data, potential selection bias in interviews, cross-sectional nature of the assessment.

Author Response

COMMENTS 1: While the study was based on a predefined framework of readiness conditions, the process used to classify each province into “established”, “partially established”, or “needs improvement” was not sufficiently described. It is unclear whether the classification was based on qualitative judgment, predefined scoring thresholds, or a structured evaluation rubric. No information was provided regarding whether different conditions were weighted equally.

REPLY 1:  The classification was based on a qualitative judgment of components and these components are further described in the larger report in the Supplementary Appendix. Further description has been added to the methods sectio.

COMMENTS 2: The manuscript relied heavily on semi-structured interviews; however, the reporting of qualitative methods was limited. The justification for purposive sampling was not sufficiently elaborated. Data saturation was not discussed. Coding and analytical procedures are not clearly described. All interviews were conducted and analyzed by a single investigator, which may introduce bias.

REPLY 2: Semi-structured interviews were conducted as a means to obtain information from the point of view of interviewee organizations, rather than personal opinions. While we recognize that semi-structured interview forms the basis of qualitative research intended to help us understand how people interpret, experience, and give meaning to the world, this was not the purpose of semi-structured interview in this case.

Instead, interview  was simply a vehicle for information gathering regarding the policies and procedures of organizations, and to understand what components of necessary conditions have been put in place or are in planning. We felt this was a better approach than a survey, since data loss or non-responsiveness would undermine the purpose of the report (i.e., a pan-Canadian environmental scan). Because we were searching for facts and not qualitative concepts like interpretation or meaning meaning,we believe concepts like coding and saturation are not applicable here.

COMMENTS 3: The manuscript provided a system-level evaluation but does not clearly connect readiness to downstream outcomes. There was no discussion of how readiness impacts clinical outcomes (e.g., diagnostic yield, access to testing). Operational metrics such as turnaround time or implementation efficiency were not addressed.

REPLY 3: The purpose of the report was to “to facilitate better understanding of Canada’s readiness to consider and adopt genomic and genetic testing” and this has been rewritten at the end of the introduction. It was not intended to assess the quality of implementation including measures such as turn around time and this is thoroughly addressed in paragraph 2 of the discussion. We pre-suppose that readiness might allow health systems to produce better health outcomes, but this needs to be addressed through further research

COMMENTS 4: The comparison across provinces is a key contribution; however, the basis for comparison (qualitative vs. quantitative inputs) is not clearly defined. It is unclear how variability in data sources across provinces may influence conclusions. Potential reporting bias (e.g., differences in interview representation) is not addressed.

REPLY 4: The basis for comparison is more thoroughly defined in the Supplementary Appendix report and this is now highlighted in the methods. To avoid potential error, “full descriptions of conditional readiness were shared back with provincial representatives for verification” and this is now described in the methods.

COMMENTS 5: The manuscript identified limitations in HTA processes across provinces, but the discussion lacks depth. The implications of non-transparent or slow HTA processes were not fully explored. Comparisons with established systems (e.g., NHS or other international frameworks) are limited.

REPLY 5: Evaluation is just one of many necessary conditions and most often we could only ascertain if a process existed and whether it follows key principles of transparency, impartiality, or inclusivity. In the vast majority of provinces, there is no HTA process or it is not transparent. Non-transparency, in turn, does not allow us to judge whether the HTA process is impartial or inclusive. Therefore it does not allow a meaningful discussion about strengths and weaknesses.

Minor Comments

COMMENTS 6: Terms such as “genomic testing”, “genetic testing”, and “advanced testing” are used interchangeably. These should be clearly defined and used consistently.

REPLY 6: We have clarified in the first paragraph of methods.

COMMENTS 7: The manuscript would benefit from a clearer explanation of how the listed conditions were operationalized in this study.

REPLY 7: We have clarified in the last paragraph of methods.

COMMENTS 8: Figure 1 summarizing readiness across provinces should be more explicitly described in the main text to aid interpretation.

REPLY 8: Line 259 states “A visual representation of the number of established conditions in each province is in Figure 1. Section 3.2 provides more detail, and a complete assessment of each province can be found in a larger report in Supplementary Appendix B.”

COMMENTS 9: The limitations section should more explicitly address reliance on qualitative data, potential selection bias in interviews, cross-sectional nature of the assessment.

REPLY 9: We spoke to heads of provincial organizations to minimize this problem. However the limitation is noted and we have added a small paragraph to the discussion: " A potential limitation of the findings is that it relied on interviews with organization representatives. While we did seek representatives working at the highest levels of each organization (e.g., directors and heads of laboratories), it is possible that some information was not accurately conveyed or understood by the single researchers conducting the interviews.”

Reviewer 2 Report

Comments and Suggestions for Authors

I have following comments for the authors-

1 “This updated analysis… reveals Canada is only partially ready… although some progress has been made since 2023.”  However, the manuscript never quantifies the magnitude of this “progress.” For example, Figure 1 shows condition counts, but the text does not specify how many conditions improved per province. Adding explicit numbers (e.g., “Ontario improved from X to Y established conditions”) would make the claim more defensible.

 

2 “The review included both commercially published and grey literature including health ministry and healthcare system websites.”  There is no description of search terms, inclusion criteria, or timeframe. Without this, reproducibility is limited. A short table summarizing search strategy, sources, and screening criteria would strengthen methodological transparency.

 

3 “fifteen (n=15) having previously collaborated with the author.”  This is a substantial proportion of the sample and could bias responses toward favorable interpretations of system readiness. The authors should explicitly acknowledge this limitation and describe how they mitigated potential bias (e.g., independent coding, blinded analysis).

 

4 “Many important gaps still remain: these include the need for linked information systems…” is nearly identical to the 2023 findings. The update would benefit from a clearer distinction between persistent gaps and newly emerging issues. A comparative table (2023 vs. 2026) would help readers see what has truly changed.

 

5 “The Canadian provinces that are in a better state of readiness… are Alberta and Newfoundland.”  However, the manuscript does not provide a scoring rubric or weighting scheme for the 12 conditions. Without a transparent scoring method, the ranking appears subjective. A supplementary scoring matrix would improve credibility.

 

6 “Broader formal engagement with industry… is almost non-existent.”  This is a strong claim, but the manuscript does not provide data- no counts of provinces, no examples of attempted engagement, no quotes from interviewees. Including anonymized excerpts from interviews would substantiate these assertions.

 

7 The text provides detailed examples for Alberta and Quebec (e.g., APL, OPTILAB, RQDM), but offers minimal detail for Manitoba, Saskatchewan, or New Brunswick. For instance, New Brunswick is described only as “still relies on its provincial Department of Health to provide an oversight function.”  A more balanced treatment would improve fairness and completeness.

 

8 “These organizations… are able to play more effective roles than Ministry-led programs.”  This is a normative claim. The authors should either provide evidence (e.g., faster turnaround times, more transparent processes) or rephrase to avoid implying superiority without data.

 

9 Table 1 lists 12 conditions, but the manuscript does not explain how these conditions interact or which are foundational. For example, information management likely underpins evaluation, navigation, and service models. A conceptual diagram showing dependencies would help readers understand the system-level logic.

 

10 The authors recommend actions such as “standardize laboratory equipment” and “publish clear criteria and timelines.”  These are reasonable but high-level. The paper would be stronger if it discussed feasibility- e.g., expected timelines, cost implications, or barriers such as provincial autonomy. Without this, recommendations risk sounding aspirational rather than actionable.

Author Response

COMMENT 1: “This updated analysis… reveals Canada is only partially ready… although some progress has been made since 2023.”  However, the manuscript never quantifies the magnitude of this “progress.” For example, Figure 1 shows condition counts, but the text does not specify how many conditions improved per province. Adding explicit numbers (e.g., “Ontario improved from X to Y established conditions”) would make the claim more defensible.

 REPLY 1: We have only made a claim about direction of progress, not magnitude. We would direct readers to the previous manuscript if they are interested in the number of conditions changed. However given that conditions are unlikely to have equal weighting, we believe that estimating magnitude of progress would be a specious exercise in quantitation and unlikely to valid or  meaningful.

COMMENT 2: “The review included both commercially published and grey literature including health ministry and healthcare system websites.”  There is no description of search terms, inclusion criteria, or timeframe. Without this, reproducibility is limited. A short table summarizing search strategy, sources, and screening criteria would strengthen methodological transparency.

REPLY 2: We did not record every website searched as this exercise was a scan and not intended to be a replicable review. We did ultimately verify findings (conditions) with high-level organizational representatives to minimize the introduction of error.

COMMENT 3: “fifteen (n=15) having previously collaborated with the author.”  This is a substantial proportion of the sample and could bias responses toward favorable interpretations of system readiness. The authors should explicitly acknowledge this limitation and describe how they mitigated potential bias (e.g., independent coding, blinded analysis).

REPLY 3: We did not perform interviews as a means of conducting research. However it is not qualitative research but simply a means of obtaining information that is less likely to be obtained through survey. We gathered facts about organizations, not the opinions or thoughts of interviewees, and therefore we don’t believe traditional approaches to mitigate bias when developing thematic findings applies in this instance.

COMMENT 4: “Many important gaps still remain: these include the need for linked information systems…” is nearly identical to the 2023 findings. The update would benefit from a clearer distinction between persistent gaps and newly emerging issues. A comparative table (2023 vs. 2026) would help readers see what has truly changed.

REPLY 4: We would direct readers to our previous manuscript and the Supplementary Appendix  to see what has changed across 5 provinces. This is also mentioned extensively in the Results and Discussion sections.

COMMENT 5: “The Canadian provinces that are in a better state of readiness… are Alberta and Newfoundland.”  However, the manuscript does not provide a scoring rubric or weighting scheme for the 12 conditions. Without a transparent scoring method, the ranking appears subjective. A supplementary scoring matrix would improve credibility.

 REPLY 5: Directionality in this instance is simply inferred by having more established or partially established conditions and fewer non-established conditions. Given that the conditions are considered necessary for being ready, we don’t believe it is a leap to say provinces who have more conditions are more ready, regardless of any weighting scheme applied.  However, a weighting scheme and an estimate of the magnitude of readiness is beyond the remit of this study.

COMMENT 6: “Broader formal engagement with industry… is almost non-existent.”  This is a strong claim, but the manuscript does not provide data- no counts of provinces, no examples of attempted engagement, no quotes from interviewees. Including anonymized excerpts from interviews would substantiate these assertions.

REPLY 6: The supplementary appendix describes engagement (or lack of) by province and this was verified by provincial representatives as well as industry representatives. In short, we are saying there are no formal processes that exist for engagement. We feel the lack of engagement cannot be proven, although the assertion is easily disproven if one can point to an engagement mechanism. We are confident that none exist when we say none exist as this has been peer reviewed by experts and validated by healthcare leaders..

COMMENT 7:  The text provides detailed examples for Alberta and Quebec (e.g., APL, OPTILAB, RQDM), but offers minimal detail for Manitoba, Saskatchewan, or New Brunswick. For instance, New Brunswick is described only as “still relies on its provincial Department of Health to provide an oversight function.”  A more balanced treatment would improve fairness and completeness.

REPLY 7: We wanted to offer highlights and examples of good or bad performance but feel a detailed description of each province would go beyond the allowable word limits of the manuscript. A province by province detailed description is available in the Supplementary Appendix.

COMMENT 8: “These organizations… are able to play more effective roles than Ministry-led programs.”  This is a normative claim. The authors should either provide evidence (e.g., faster turnaround times, more transparent processes) or rephrase to avoid implying superiority without data.

REPLY 8: We have changed the text as we only wanted to comment on the nimbleness of the organizations and used the word effectiveness, we acknowledge can imply a broader effect. We believe nimbleness is a logical assertion, organizations with more flexible budgets will be better prepared to act on new initiatives compared to Ministries which have pre-allocated ones.

COMMENT 9: Table 1 lists 12 conditions, but the manuscript does not explain how these conditions interact or which are foundational. For example, information management likely underpins evaluation, navigation, and service models. A conceptual diagram showing dependencies would help readers understand the system-level logic.

REPLY 9: We would refer the reviewer to our previous paper about conditions (Husereau D, Steuten L, Muthu V, Thomas DM, Spinner DS, Ivany C, et al. Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness? Healthcare (Basel). 2022;10:2086. https://doi.org/10.3390/healthcare10102086) Trying to map out interdependencies is really beyond the remit of this paper. We are not trying to understand how these conditions work toward readiness, only whether they have been developed and are functional across provinces.

COMMENT 10: The authors recommend actions such as “standardize laboratory equipment” and “publish clear criteria and timelines.”  These are reasonable but high-level. The paper would be stronger if it discussed feasibility- e.g., expected timelines, cost implications, or barriers such as provincial autonomy. Without this, recommendations risk sounding aspirational rather than actionable.

REPLY 10: These actions are deliberately high level and we would hope that individual provinces with local issues develop local solutions. This would involve deeper engagement and consideration of even more local information, and is beyond the remit of this paper.

 

Round 2

Reviewer 1 Report

Comments and Suggestions for Authors

The authors have adequately addressed the reviewer’s comments and substantially improved the manuscript.