Since the mid-2000s, companies have been marketing various forms of personal genomic (DNA) testing to the public, typically online [1]. Termed by experts as direct-to-consumer genetic tests, they are marketed for a variety of purposes, offering a spectrum of information to consumers. This can include information about predisposition to conditions, carrier status, response to medications (pharmacogenomics), diet (nutrigenomics), fitness and sporting abilities, physical characteristics, ancestral connections and relationships, and for personality and behavior traits. Companies also market DNA testing for ageing, including skin ageing [2]; some even offer DNA dating tests, suggesting this could guide choice of partners [3]. Many ethical and social concerns have been raised and debated regarding personal genomic testing, primarily those tests available through the direct-to-consumer model [4]. The reliability and clinical validity of these tests vary considerably between companies, especially in terms of predicted risks for common complex diseases [5], while the scientific evidence for many of the more “recreational” tests, such as tests for sporting ability, are questionable [6]. Regulatory constraints in some jurisdictions have been imposed on the direct-to-consumer model, limiting some types of tests with health-associated results or requiring a health professional to request the online test on behalf of the consumer [7]. Current testing options are a combination of the health professional mediated and the direct-to-consumer model.

The healthcare system in Australia operates through a mix of publically funded (Federal and State) and private (user pays, but publicly subsidised) services. Traditionally, clinical genetics has been provided through publically funded services, while funding for clinical genetic testing has varied and, depending on the test and context, the patient may pay nothing or be required to partially or fully pay for the test themselves [8]. As healthcare costs rise and greater emphasis is placed on consumer choice and autonomy, genetic testing through the private sector is increasing,

Opportunities for Australian consumers to have direct access to personal genomic testing for health and non-health related purposes have been available, predominantly through online testing companies not located within Australia. The number and type of companies selling personal genomics tests (PGT) online (either directly or via a health professional) seem to fluctuate rapidly [1910]. Direct-to-consumer genetic tests and in vitro diagnostic medical devices for health disorders were excluded from registration with the Australian Register of Therapeutic Goods in 2011 [11], thus apparently restricting access. This exclusion, however, does not extend to genetic tests for recreational purposes, such as ancestry, kinship, and parentage, and it is questionable whether this exclusion also applies to genetic tests around lifestyle and wellness, such as nutritional genomics.

As the field originated in the United States, most research examining experiences with personal genomics has been specific to that context. In Australia, there has been limited empirical research examining public [12,13,14] or health professional [15] views of, or experiences with, PGT. Findings from this earlier research reported minimal interest in pursuing such tests [13]. Within this increasing market, however, there has been little public engagement with Australians that details the expectations, benefits and drawbacks of undertaking these tests.

We are conducting a large multi-disciplinary and mixed methods study to understand the Australian public’s experiences and expectations of personal genomics. Genioz (Genomics: National Insights of Australians) commenced in 2015 and comprises five research components (Fig. 1). We are identifying important gaps in critical thinking that may undermine informed uses of personal genomics in Australia, to generate recommendations about educational and public engagement strategies to both support the public to make well-considered and meaningful decisions, and to advise policy makers regarding how the public might be supported accordingly. The first exploratory stage of the study is reported here. It used qualitative focus group methodology to collect baseline data around Australians’ awareness, knowledge, attitudes, and views on PGT