Think before you spit ... and share : protecting consumers in Australia’s direct-to-consumer health-related genetic testing (DTCGT) space

Traditionally health-related genetic testing was only available within the jurisdictional bounds of a country’s healthcare system, subject to strict requirements for access, funding and actioning. Direct-to-consumer health-related genetic testing (DTCGT) represents a paradigm shift from medical to consumer, as private companies now provide health-related genetic tests and results directly to consumers in commercial transactions, typically conducted online. Since 2007, when US company 23andMe invited the world to spit in a tube, pay a comparatively small fee, and discover its genetic roots and destiny, DTCGT has offered a future of hope, according to its proponents, and fear, according to its critics. DTCGT’s key promise is consumer empowerment – that individuals armed with personal genetic information about their current and future health status will use it to make autonomous, informed decisions about their healthcare and lifestyles. Its critics, however, focus on the potential for consumer harm, especially psychological, in situations where individuals are required to self-interpret complex genetic information provided for bundles of different tests, and then determine for themselves how they feel and what they might do. This research reports on modelling of Australia’s DTCGT and clinical genetic testing (CGT) spaces and the results of an online panel survey. While the research focus is Australia, the online panel was conducted with 2000 respondents, 1000 each from Australia and the United States, with the United States results used to provide context and comparison. Modelling revealed what was initially believed to be a bifurcated system – consumer in the marketplace or patient in the clinic – had the potential for individuals to be both consumer and patient through consumer or company-initiated engagement with healthcare. Given current industry focus on monetisation of genetic data, DTCGT consumers can also assume the role of research participant by allowing use of their data in company research. As such, three distinct regulatory regimes are involved in the DTCGT space – medico-legal, consumer and human research – each affording different regulatory protections enlivened by DTCGT consumers’ roles as consumer, patient and research participant. In the survey component of this research, respondents were presented with sample DTCGT results for two disease predisposition tests and one pharmacogenomics test, randomly allocated into different risk and metabolisation rate treatments, and then asked to both interpret and contextualise results. The construct of ‘match/mismatch’ was developed based on consistency of personal interpretation with DTCGT disease predisposition results presented, and then applied to DTCGT engagement. Analysis demonstrated those who ‘mismatched’ experienced disproportionate emotional distress and engagement, and intended to engage in behaviours unwarranted by actual results when compared to those who ‘matched’, providing evidence of potential consumer harm, especially psychological harm. The potential for harm to overall health was found relative to the pharmacogenomics test, with over one in ten respondents intending to independently alter their medication dosage based on results, and the potential for strain on healthcare resources as almost eight out ten intended to seek expert advice. Most notable overall was the similarity in response patterns between Australian and US respondents, suggesting at least a certain amount of 'universality' or response consistency in how individuals engage with DTCGT results. The outcome of this research resulted in two key recommendations. First, given the pivotal role played by interpretation in engagement with DTCGT, the need for genetics education both for the general public and the medical profession was strongly recommended, not just to prepare both for DTCGT but for whatever the accelerating development of genetic tests, treatments and technologies brings. Secondly, with regard to regulatory reform, the recommendation was to do nothing UNTIL key players in the three regulatory spheres are brought together to consider DTCGT and future genetic offerings both in the clinic and the marketplace – from a holistic perspective. Australia’s DTCGT space demonstrates regulatory congestion – too many laws, areas of both overlap and gaps ripe for regulatory avoidance or commercial exploitation, with none totally fit for purpose. The traditional ‘siloed’ approach where each of these spheres regulates within its silo is no longer ‘fit for purpose’. The siloes need to be broken down and regulation developed from a holistic perspective as the window of opportunity to at least stay abreast of the commercialisation of genetics is rapidly closing