Genomics professionals in Australia have generally been in favor of ownership of patient data
A total of 184 participants completed the survey, although only 117 participants from the four groups of professionals completed the questions relevant to this analysis. Among them were 50 genetic counselors, 30 researchers, 20 bioinformaticians, and 17 clinical geneticists. Participants were distributed across six states and two territories in Australia. Most of the participants were from New South Wales (43), followed by Victoria (29), Queensland (20), Western Australia (11), South Australia (9), Australian Capital Territory (3), Northern Territory (1), and Tasmania. (1).
Respondents rated their perceptions of ownership of patient data on a scale of 1 to 8. We combined ‘disagree or disagree’ and ‘don’t know’ to create a new scale item of 4 = ‘neutral and don’t know’ to maximize sample size for analysis and to calculate means. We investigated whether perceptions of each component of patient data ownership differed among the four occupational groups. The results showed that most respondents (>50%) across all occupational groups had a positive perception towards ownership of patient data (Fig. 1). More than 90% of bioinformatics scientists and researchers agree with all three. However, responses from geneticists and genetic counselors were more varied across the three components, particularly with regard to patients’ rights to own the data. Almost a third of clinical geneticists answered that patients should not have a right to own their data, and more than a quarter of genetic counselors (26%) remained neutral on this question. These findings indicated that respondents’ professional roles, experiences, and responsibilities may influence how they view the benefits and drawbacks of ownership of patient data.
Support for ownership of patient data is declining among professionals with higher degrees of direct patient interaction
Means of perceptions toward ownership of patient data across the three scale items were calculated. The average of the three items of patient data ownership created an internally inconsistent individual measure of perceptions toward patient data ownership (alpha = 0.79). We then identified any outliers present in the data that might affect the analysis . After removing three outliers (one researcher, one bioinformatician, and one genetic counselor) to satisfy assumptions of normal distribution for hypothesis testing, a total of 114 observations were used for this analysis. Mean values across the four professionals are presented in Figure 2 (also in Supplementary Table 2). Since 4 was the midpoint of the scale (the neutrals, I don’t know), any average values over 4 represent agreement and values less than 4 disagree, on average. All professional groups were supportive of patient data ownership, with the median being above 4. Median values were lowest among clinical geneticists followed by genetic counselors and highest among bioinformatics and researchers. This finding also indicated the possible influence of professional roles, experience, and responsibilities on their perceptions.
To test whether professional groups’ perceptions of ownership of patient data differed according to their professional roles and responsibilities, we conducted a hypothesis test:
ANOVA test results confirmed that perceptions of patient data ownership were statistically different between occupational groups at a 95% confidence level (s = 0.000014) (Supplementary Table 3); Hence, Ha It was accepted. Additional Tukey’s significance tests were used for post-hoc comparison of means. The difference between means and sThe values (level of significance) are shown in Figure 2; Tukey test results are provided in the Supplementary Information (Supplementary Table 4). The results showed that the difference in perceptions towards ownership of patient data between clinical geneticists and genetic counselors was not statistically significant (s= 0.32). A similar result was found among bioinformatics scientists and researchers (s= 0.67). While significant differences were found in the perceptions towards ownership of patient data between (1) clinical geneticists and bioinformatics scientists (s= 0.0001) (2), geneticists and researchers (s= 0.0001) (3), genetic counselors and bioinformatics (s= 0.002) and (4) genetic counselors and researchers (s= 0.02). This finding suggests that professionals who do not have a direct interface with patients (eg, work ‘behind the scenes’) have more positive perceptions towards ownership of patient data than do ‘patient-facing’ professionals.
Explore the nature of the dispute with ownership of patient data
Fifteen respondents expressed disagreements about patients having rights to either own or control their data or decide who uses their data, of which 14 participants provided written comments about their reasons for disagreement. We identified one major theme that explains the reasons for their disagreement, and that is “control but not possess”.
The “control, not have” theme captured the views that patients have a right to control who uses their data, but this does not automatically translate into ownership of that data. This was expressed by a genetic counselor as follows: “I don’t think they are [patients] need to own the data, just have the right to make decisions about what is done with it” (G14). These respondents also identified three challenges they saw as relating to patients “owning” their data: “copyright”; “collective ownership”; and “misuse potential use”.
According to the Copyright Act 1968 in Australia, the rights to publish genomic data rest with the compiler who has invested resources (both human and financial) in collecting, verifying and storing the data. Along the same lines, one genetic counselor stressed, “The data is generated by the lab and is therefore theirs/managed, on responsible, pre-agreed terms that patients agree to in [the] test time” (G1).
Respondents also reflected the perception that a patient’s genomic data is under the collective ownership of the patient’s family. One researcher described why it is wrong for one person to have their own genome data, “I think my genome is not mine but my parents and their parents” so viewing my genome as genetic is not correct. I am merely the guardian of the DNA that has been passed on to me” (R12).
In addition, participants expressed concerns about potential misuse of genomic data arising from patient ownership that would not occur if patients were simply able to control and limit who uses their data through existing consent processes. One clinical geneticist stated, “This is a matter of protecting patients from agents who might misuse their data. I am concerned that if individuals are given their genome data, they will turn it over to organizations who will misuse it without their genome data.” [patients’] knowledge” (C5). This means that respondents who did not agree that a patient should own their genome data may also believe that it is safer for patients to store data in a centrally located server than to provide that data to patients directly.
Enabling factors and barriers in implementing patient data ownership
Four themes were identified in how respondents perceived the enablers and barriers to implementing patient data ownership in Australia. They were “Patient Readiness”, “Genomics Workforce”, “State of Health System Infrastructure”, and “Coordinated Policy Environment”.
Patient readiness refers to the state of patients’ knowledge and awareness about their own genomic data and the practice of clinical genomics in general. Respondents recognized that patients’ current understanding of their genomic data could be an impediment to their mechanisms for responsibly and securely owning their data. Specific concerns have been raised about the usefulness and interpretation of genomic data by patients. A genetic counselor and bioinformatics expert feared that patients did not currently have “the ability to interact with data in a meaningful way” (G15), which could lead to “a high degree of misunderstanding and misinformation unless handled carefully” (B6). As a result, respondents highlighted the need for educational pathways to enable ownership of patient data for both patients and professionals (as described in the following topic). One researcher wrote, “There should be a path to educate people about safe ways to manage their genomic data” (R35). In addition, clinical geneticists and genetic counselors emphasized that implementing patient data ownership should be coupled with professional support.
In the topic ‘Genomics Workforce’, respondents explained that because clinical genomics is a relatively new field, there were not enough health professionals with genomic skills and knowledge to support the implementation of patient data ownership. Because this must be enabled through appropriate professional education and support, the required genomic workforce must be expanded, particularly around ‘patient interface and further genetic counseling’ (G40). Respondents warned of potential drawbacks in establishing such a genetic workforce as this “would take several years of education to improve the general level of genetic and genomic literacy across non-genetic health professionals” (G23), which would require a long-term strategic investment.
The topic “State of Health System Infrastructure” includes the technology and infrastructure enablers and barriers required to support the implementation of Patient Data Ownership. Bioinformatics scientists and researchers have confirmed that the technology required to support patients who own their data is now available, and as one bioinformatics expert put it, “All the technology and data management tools are in place to make that happen” (B11). The researchers agreed that systems exist to support this in research settings and identified the need for piloting of these systems in clinical settings before they are rolled out for mass uptake. However, for the broader implementation of patient data ownership, respondents cited a major barrier as inadequate data storage and infrastructure. As one genetic consultant put it: “We don’t have enough storage capacity to store such large data right now so that people can ‘own’ their data” (G32). Similarly, one researcher commented, “Australia needs the right infrastructure to help people store and manage their data” (R9). Another barrier raised related to the challenges associated with embedding a user interface into the data warehousing system. As expressed by a genetic counselor, “The main barrier is that the infrastructure of the online health system is nowhere ready to allow for the dynamic and interactive sharing of people’s genetic data” (G22).
In the topic ‘harmonized policy environment’, respondents identified a lack of relevant legislation to support ownership of patient data. One genetic counselor commented that the barrier is “the time needed to develop appropriate protocols and legislation [and] Implement those at the federal and state levels” (G43). According to one researcher, there is no “legislation guiding data sovereignty” (R21). Importantly, the ambiguities around patient ownership discussed earlier need to be addressed, and as one researcher stated, “ The legal and regulatory implications of data ownership must be resolved as the intellectual property of the individual versus the laboratory producing the data” (R3). The model of laboratory ownership of genomic data is also discussed by respondents expressing disapproval towards patients whose data they own (under “copyright” concerns in the section Previous).