Demographics
A total of 1,658 participants responded to the questionnaire. After exclusion of incomplete responses (n = 422) and those either with international postcodes or without an identifiable Australian postcode (n = 3), there were 1,233 complete responses that qualified for the analysis.
Participants ranged from 18 to over 75 years of age (Table 1). The majority of them were aged 55 years or more (69%, n = 856), female (67%, n = 832), while participants aged 18 to 35 years being under represented (4%, n = 52). Participants were disproportionally from higher socioeconomic status areas (combined ISRAD 3 to 5: 78%, n = 959). While participants from every Australian state were represented in the survey, over half of them were Queensland-based (55%, n = 677).
Table 1
Socio-demographic characteristics of questionnaire participant
Demographic variables (n = 1233) | All participants N (%) |
Gender | |
Male | 394 (31.95) |
Female | 832 (67.48) |
Other | 7 (0.57) |
Age (years) | |
18–24 | 18 (1.46) |
25–34 | 34 (2.76) |
35–44 | 85 (6.89) |
45–54 | 240 (19.46) |
55–64 | 388 (31.47) |
65–74 | 368 (29.85) |
75+ | 100 (8.11) |
Education | |
University | 772 (62.61) |
Non-university | 461 (37.39) |
Didn't complete year 10 | 13 (1.05) |
Year 10 or equivalent | 86 (6.97) |
Year 12 or equivalent | 124 (10.06) |
TAFE/Apprenticeship or equivalent | 238 (19.30) |
State of residence | |
Queensland | 677 (54.91) |
Non-Queensland | 556 (47.09) |
New South Wales | 206 (16.71) |
Victoria | 144 (11.68) |
South Australia | 55 (4.46) |
Western Australia | 69 (5.60) |
Tasmania | 31 (2.51) |
Australia Capital Territory | 44 (3.57) |
Northern Territory | 7 (0.57) |
Worked in life science | |
No | 1,149 (93.19) |
Yes | 84 (6.81) |
Worked in healthcare | |
No | 843 (68.37) |
Yes | 390 (31.63) |
Had genetic or genomic testing | |
No | 747 (60.58) |
Yes | 421 (34.14) |
Unsure | 65 (5.27) |
SEIFA (ISRAD) | |
1 (most disadvantages) | 110 (8.92) |
2 | 163 (13.22) |
3 | 194 (15.73) |
4 | 342 (27.74) |
5 (most advantaged) | 423 (34.31) |
Location | |
Metropolitan | 755 (61.23) |
Regional | 478 (38.77) |
The majority of participants were university educated (63%, n = 772) and almost one-third have worked in healthcare (32%, n = 390) (Table 1). One-third of participants reported that they have had a genetic or genomics test in the past (34%, n = 421), which could have been clinical diagnostic test, participation in genomic research, or direct-to-consumer testing (health or recreational testing (24)).
Permission For Genomic Data Sharing
Overall, most agreed (86%, n = 1,063) that QH should ask individual permission before sharing identifiable genomic data with researchers, but only one-third (36%, n = 440) considered individual permission necessary when sharing anonymous genomic data (Table 2).
Table 2
Participant preferences for when permission is sought for sharing genomics data and biological samples with researchers (N = 1233).
| Identifiable genomic data N (%) | Anonymous genomic data N (%) | Identifiable biological samples N (%) | Anonymous biological samples N (%) |
Should Queensland Health ask your permission before allowing researchers to access the following from your medical record? | | | | |
Strongly agree | 727 (58.96) | 217 (17.60) | 705 (57.18) | 213 (17.27) |
Agree | 336 (27.25) | 223 (18.09) | 340 (27.58) | 219 (17.76) |
Undecided | 52 (4.22) | 132 (10.71) | 58 (4.71) | 135 (10.95) |
Disagree | 82 (6.65) | 416 (33.74) | 87 (7.06) | 413 (33.50) |
Strongly disagree | 36 (2.92) | 245 (19.87) | 43 (3.49) | 253 (20.52) |
Overall agreement for asking permission a | 1,063 (86.21) | 440 (35.69) | 1045 (84.76) | 432 (35.03) |
Overall disagreement for asking permission b | 118 (9.57) | 661 (53.61) | 130 (10.55) | 666 (54.02) |
How often should Queensland Health ask for permission to give researchers access to the following from your medical record? | | | | |
Every time | 807 (65.45) | 235 (19.06) | 808 (65.53) | 239 (19.38) |
Sometimes | 50 (4.06) | 78 (6.33) | 46 (3.73) | 79 (6.41) |
Only once | 313 (25.38) | 455 (36.90) | 310 (25.14) | 444 (36.01) |
Never | 63 (5.11) | 465 (37.71) | 69 (5.60) | 471 (38.20) |
a: Overall agreement is calculated as the sum of ‘agree’ and ‘strongly agree’. |
b: Overall agreement is calculated as the sum of ‘disagree’ and ‘strongly disagree’. |
Two-thirds nominated that QH should ask their permission either every time or sometime before their identifiable genomics data (69%, n = 808) would be shared with researchers, with a further quarter preferring to be asked only the first time (25%, n = 313) (Table 2). For anonymous genomics data, preferences for being asked only once was higher(37%, n = 455) than the need to ask at least sometimes (25%, n = 313). There was little difference in the observed preferences for seeking permission for biological samples when compared with genomic data (Table 2).
Under half of all participants stated they would allow another person to give permission on their behalf, once they are no longer able to (44%, n = 538) (Table 3), with family members being the most preferred option (62%, n = 335), followed by nominated legal representative (e.g. power of attorney) (48%, n = 258).
Table 3
Participant preferences for when permission is sought for sharing genomics data when patient is no longer able.
| Total N (%) | Family member N (%) | Nominated legal representative N (%) | Doctor N (%) | HREC N (%) | Data governance N (%) |
Do you think someone else should be able to give permission for researchers to access your anonymous genomic data from medical records if you are no longer able? (N = 1233) | | | | | | |
No, only I can give permission | 289 (23.44) | - | - | - | - | - |
No, data freely available | 406 (32.93) | - | - | - | - | - |
Yes | 538 (43.63) | - | - | - | - | - |
If Yes, who would you prefer to give permission for your anonymous genomic data to be used in research on your behalf? (you can select multiple answers) (N = 538) | | | | | | |
Total N = 538 (100.00) | - | 335 (62.27) | 258 (47.96) | 109 (20.26) | 104 (19.33) | 49 (9.11) |
Preferences For Genomic Data Sharing
There was substantial variations in participant preferences for the organisations with which they would share their genomic data, ranging from 13–92% for anonymous and from 0.7–73% for identifiable data (Table 4). Overall, participants were between 12% and 32% less likely to share their identifiable than anonymous genomic data.
Table 4
Participant preferences for organisation that they would choose to share their genomics data (N = 1,233).
| Yes n (%) | Yes n (%) | Difference a (%) |
What organisations would you share your … | Anonymous genomic data | Identifiable genomic data | |
Australian not-for-profit research organisations | 1,136 (92.13) | 894 (72.51) | 19.62 |
Australian universities and research institutes | 1,140 (92.46) | 881 (71.45) | 21.01 |
Australian government | 615 (49.88) | 220 (17.84) | 32.04 |
Overseas not-for-profit research organisations | 679 (55.07) | 285 (23.11) | 31.96 |
Overseas universities and research institutes | 716 (58.07) | 337 (27.33) | 30.74 |
Overseas governments | 214 (17.50) | 30 (2.43) | 15.07 |
Commercial company | 209 (15.41) | 32 (2.60) | 12.81 |
Publically available | 158 (12.81) | 9 (0.73) | 12.08 |
What types of research would you share your anonymous genomic data with? | | | |
Research specific to a condition I have | 1,177 (95.46) | - | - |
Research into other diseases and conditions | 1,118 (90.67) | - | - |
General population health research | 1,072 (86.94) | - | - |
Ancestry research | 807 (65.45) | - | - |
Unspecified future research | 590 (47.85) | - | - |
a: Difference between participants that would share their anonymous and their identifiable genomic data. |
The majority of participants would share their genomic data with Australian universities and research institutes (Anonymous: 92%, n = 1,140; Identifiable: 71%, n = 881), or not-for-profit organisations (Anonymous: 92%, n = 1,136; Identifiable: 73%, n = 894) (Table 4).
Overseas governments (Anonymous: 18%, n = 214; Identifiable: 2%, n = 30), commercial companies (Anonymous: 15%, n = 209; Identifiable: 3%, n = 32) and data being made publically available (Anonymous: 13%, n = 158; Identifiable: 1%, n = 9) rated the lowest for sharing both anonymous and identifiable genomic data.
Nearly all participants would agree to share anonymous genomic data for research of a disease they have (95%, n = 1,177) or other diseases or conditions (91%, n = 1,118), while slightly fewer would for general public health research (87%, n = 1,072). About half of all participants would be happy to share their anonymous genomic data for unspecified future research (48%, n = 590) (Table 4).
Concerns About Genomic Data Sharing
The majority of participants expressed high concerns about potential insurance discrimination (87%, n = 1,031), marketing companies (82%, n = 1,016), employment based discrimination (80%, n = 992), genomic data being made publically available (70%, n = 869), stigmatisation (63%, n = 774), and ethnic/racial discrimination (62%, n = 774) (Table 5). In comparision, under one-fifth of participants felt the same high concern about family finding out about their health results (20%, n = 242), upsetting genetic relatives (20%, n = 241), or data being used for quality improvement in QH diagnostics (18%, n = 216).
Table 5
Participants levels of concern associated with sharing genomic data for health records with researchers.
| Very concerned N (%) | Moderately concerned N (%) | Somewhat concerned N (%) | Slightly concerned N (%) | Not concerned N (%) |
Insurance companies using my genomic data to discriminate against me | 1,031 (83.62) | 76 (6.16) | 51 (4.14) | 33 (2.68) | 42 (3.41) |
Marketing companies targeting me to sell me products | 1,016 (82.40) | 102 (8.27) | 58 (4.70) | 29 (2.35) | 28 (2.27) |
Employers using my genomic data to discriminate against me | 992 (80.45) | 77 (6.25) | 57 (4.62) | 26 (2.11) | 81 (6.57) |
My genomic data being made publicly available | 869 (70.48) | 127 (10.30) | 104 (8.43) | 76 (6.16) | 57 (4.62) |
Being labelled or stigmatised in some way | 774 (62.77) | 123 (9.98) | 100 (8.11) | 72 (5.84) | 164 (13.30) |
Ethnic or racial discrimination | 769 (62.37) | 98 (7.95) | 81 (6.57) | 55 (4.46) | 230 (18.65) |
Privacy of my personal details (e.g. name, date of birth, address) | 727 (58.96) | 205 (17.36) | 136 (11.03) | 94 (7.62) | 71 (5.76) |
My genomic data being used for research without my permission | 588 (47.69) | 214 (17.36) | 149 (12.08) | 126 (10.22) | 156 (12.65) |
Police using genomic databases with my details to investigate crimes | 474 (38.44) | 141 (11.44) | 137 (11.11) | 142 (11.52) | 339 (27.49) |
Receiving information about my future health that has no treatment option | 431 (34.96) | 194 (15.73) | 191 (15.49) | 155 (12.57) | 262 (21.25) |
My family finding out about my health results | 242 (19.63) | 140 (11.35) | 140 (11.35) | 142 (11.52) | 569 (46.15) |
Upsetting my genetic relatives, because my genomic information is similar to theirs | 241 (19.55) | 138 (11.19) | 150 (12.17) | 191 (15.49) | 513 (41.61) |
My genomic data being used by Queensland Health to improve services or diagnostic tests | 216 (17.52) | 202 (16.38) | 185 (15.00) | 168 (13.63) | 462 (37.47) |
The most common themes in the open text responses to concerns (n = 209) related to data security (24%, n = 49), commercial use or gains (13%, n = 28), autonomy in choosing to participate (11%, n = 22), and the use of genomic data without consent (10%, n = 20) (Table 6). Although the open text question intended to identify any other concerns about sharing genomic data from medical records for research, about 14% of respondants conveyed their support for sharing data for research purposes.
Table 6
Summary of identified themes from open text box responses of participant concerns.
Themes of concerns (n = 209) | N (% of those responding) a |
Data security | 49 (23.56) |
Commercial use or gains | 28 (13.46) |
Autonomy of choice | 22 (10.58) |
Consent | 20 (9.62) |
Personal ethics on research type | 15 (7.21) |
Implications for self | 15 (7.21) |
Privacy | 15 (7.21) |
Access | 10 (4.81) |
Family implications | 6 (3.85) |
Trust | 8 (3.85) |
Misuse | 7 (3.37) |
Data management | 6 (2.88) |
Objection to sharing | 4 (1.92) |
Interest in area of research | 4 (1.92) |
Questionnaire comment | 3 (1.44) |
Positive response to sharing | 30 (14.42) |
a: 274 identified themes of concern identified from free-text comments of 209 respondents. Percentage calculated from number of participants that provided a text box response to Q14 (n = 209) |
Comparing Data Sharing Preferences Across Groups
Analyses based on demographic cohorts revealed some differences across the cohorts (Additional file 2). Preferences for when and how often permission was required varied across age, gender, education, expereince working in health care, or experience for genetic/genomic testing (p < 0.01) (Additional file 2, Tables S1 and S2). There was an observed difference in participants responses for those who were < 55 years old, had worked in health care, or were university-educated. A greater proportion of females than males indicated that permission should be required more than once for both identifiable genomic data and biological samples (p < 0.01). When participants had an experience of genetic/genomic testing, they disagreed that permission needed to be asked more than once (p = 0.008).
Participants who had previous experience with genetic testing, were ≥ 55 years or under 35 years old, or from Queensland more often agreed to sharing their anonymous genomic data for ancestry research (all p < 0.01). Conversely, participants who have worked in health care or have attained university education less often agreeed to sharing genomics data for ancestry research or unspecified future research (p < 0.01) (Additional file 2, Table S6). Age was also a factor in participants preference for third party permission, and organisations that they would choose to share identifiable and anonymous genomics data (Additional file 2, Table S3, S4 and S5).
Queensland residents expressed less high or moderate concern compared with non-Queensland residents about sharing their genomic data (Additional file 2, Table S7).