Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services

Abstract

As genetic testing becomes increasingly utilized in health care, consumer awareness and understanding is critical. Both are reported to be low in Australia, though there are limited studies to date. A consumer survey assessed perceived knowledge, awareness and attitudes toward genetic medicine, prior to consumers' genomics forums in Queensland in 2018 and 2019. Data was analyzed using t-test and Mann-Whitney U tests analysis to detect any associations between sociodemographic factors and familiarity or attitudes. This highly educated and experienced health consumer cohort reported they were significantly more familiar with the healthcare system generally than genetic medicine specifically (p < 0.0001). Consumers perceived that genetic testing would be significantly more important in the future than it is currently (p < 0.00001). Consumers agreed that genetic testing should be promoted (91.4%), made available (100%), better funded (94.2%), and offered to all pregnant women (81.6%). The preferred learning modality about genetics was internet sites (62.7%) followed by talks/presentations (30.8%). Benefits of genetic testing, reported in qualitative responses, included the potential for additional information to promote personal control and improve healthcare. Perceived concerns included ethical implications (including privacy and discrimination), and current limitations of science, knowledge and/or practice. This study demonstrates that even knowledgeable consumers have little familiarity with genetic medicine but are optimistic about its potential benefits. Ethical concerns, particularly concerns regarding genetic discrimination should inform legislation and policy. Consumers are supportive of online resources in increasing genomic literacy.

Australian human research ethics committee members’ confidence in reviewing genomic research applications

“…Overall educational attainment [ 37 ] and genomic education specifically [ 18 ], have previously been shown to be positively associated with genomic literacy/knowledge. However, one study showed that even highly educated individuals may be less familiar with genomics as compared to healthcare in general [ 17 ]. Approximately, two thirds of participants indicated that they had undertaken some form of genomic education, which is an unexpectedly high proportion, considering findings within Australia have shown that when continuing genomic education sessions are offered to healthcare providers, attendance is limited [ 38 ].…”

“…Approximately, two thirds of participants indicated that they had undertaken some form of genomic education, which is an unexpectedly high proportion, considering findings within Australia have shown that when continuing genomic education sessions are offered to healthcare providers, attendance is limited [ 38 ]. Similarly, awareness and understanding of genetic services among health consumers is low [ 17 ]. Furthermore, the literature reports that, internationally, non-genetic physicians and members of the general public reported receiving limited genomic education [ 36 ].…”

“…With the growing integration of genomics into clinical AQ1 AQ2 AQ3 AQ4 AQ5 medicine [ 1 ], the scale, scope and complexity of genomic research is inevitably increasing [ 2 ]. There are many ethical considerations associated with genomic research, including the nature of consent [ 3,4,5,6 ], procedures around the disclosure/non-disclosure of results [ 7,8,9,10,11 ], sample ownership and data storage/sharing [ 12,13,14,15 ], the shared nature of genetic information [ 16 ], and genetic discrimination with insurance policies [ 17,18,19 ]. Genomic research, therefore, requires robust ethical review.…”

Genetic counselors, patients', and carers’ views on an Australian clinical genetics service information system

“…Therefore, more patients will have to balance individual privacy concerns about genetic information with health benefits for themselves or relatives. Privacy concerns may be more universal (e.g., insurance discrimination), or specific to an individual's context or country, and could deter some individuals from accessing genetic testing (Clayton et al, 2018;Tiller et al, 2020;Wallingford et al, 2020). Some genetic information may require greater privacy protections within electronic records than others, such as predictive results in children (Grebe et al, 2020).…”

Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system

“…Projects focused on (1) preparation of the health system for genomics, or (2) support or evaluation of Clinical projects [27][28][29][30][31][32][33][34][35] . In addition, seven projects designed by the CAG were funded in the Strategy and Legacy Rounds (Table 2) that focused on areas of need for the patient community and patient support mechanisms within the health system 36 .…”