Demographics
A total of 1,658 participants started the questionnaire. After exclusion of those that did respond after demographic questions (n = 161), incomplete responses (n = 261) 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). The majority of participants were university educated (63%, n = 772) and almost one-third have worked in healthcare (32%, n = 390) (Table 1). Each of these variables deviated from the Australian population, based on the 2016 Census (Table 1) (24). Over half of participants were Queensland-based (55%, n = 677) as this was the target audience.
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 (25)). There is no data to indicate how representative these figures are.
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).
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).
Preferences for genomic data sharing
There were substantial variations in participant preferences for the organisations with which they would share their genomic data, ranging from 13% to 92% for anonymous and from 0.7% to 73% for identifiable data (Table 4). Overall, participants were between 12% and 32% less likely to share their identifiable than anonymous 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), other diseases or conditions (91%, n = 1,118) or general public health research (87%, n = 1,072) with no statistically significant difference in sharing preferences between demographic participant groups (Additional File 2, Table S6). About half of all participants would 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).
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.
Comparing data sharing preferences across groups
Analyses based on demographic participant groups revealed some differences across the groups (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).