Australasian Science: Australia's authority on science since 1938

Personal Genomics: What Do Consumers Want?

Credit: vege/adobe

Credit: vege/adobe

By Sylvia Metcalfe

Are Australian consumers excited or cynical about the promises of personal genome tests, and are they adequately prepared for the information they’ll receive?

Are you intrigued by what your genes can tell you? Do they contain information that piques your curiosity about your ancestors or whether you should undertake certain types of sport? Or which diet is best for you and which medications will or won’t work? And what about which illnesses you might develop in the future?

These are the marketing claims of the companies selling personal genomic tests online, but what do you, the reader, think about this as a potential consumer? What would you want to know and how much?

We are asking these very questions of all Australians in an exciting new research study called Genomics: National Insights of Australians (GeNIOz). Why? Because we believe that for society to gain the most benefit from new genetic technologies people should be able to draw on unbiased information so they can make informed decisions and understand their ethical implications. Right now, we don’t know much about what Australians think about the tests based on these advances in genetic science, or to what extent they are using these and where they are seeking information to decide about testing.

In the past 10 years or so there has been a paradigm shift from testing just one gene at a time – usually to diagnose a genetic condition when there are symptoms or because of a specific family history – to being able to test our entire genome. This has been possible because of developments in genetic technologies called “next generation sequencing”, which promises to read or sequence all of a person’s genetic information (the six billion nucleotides in their genome) for $1000 or less. This technology has been described as one of the top 10 ten “disruptive” technologies that have the potential to transform society, alongside social media and the mobile internet. While the majority of personal genomic tests to date have examined selected regions in a “genome scan”, companies are now starting to offer whole genome sequencing.

Personal genomic tests can already be accessed by Australians, who can source tests online either from companies based overseas or locally. How someone might use personal genomic information could vary considerably according to the individual, family and social context. The person who owns the information can explore, share and “play” with it, valuing the information as they see fit (“personal utility”).

Advocates for personal genomic tests claim several benefits of this technology, arguing that it empowers individuals about their lifestyle, relationships, health or personal identity. On the other hand, having more information gleaned from our genome can pose significant challenges because, while the tests may have a high degree of analytical accuracy in detecting sequence variations, there is still much uncertainty about how these variations are interpreted meaningfully. Such uncertainty has the potential to undermine how useful the information can be to individuals, families and society, and create mis­conceptions, anxiety and mistrust. Critics of personal genomic tests are concerned that consumers may not recognise their limitations, may overburden a health system that is not adequately prepared for requests for interpretation, and may take inappropriate actions based on their results.

Studies from a range of countries show that the public has a relatively high awareness of genetics and genetic testing, but has a limited understanding of specific genetic terminology and testing procedures. How much genetics knowledge a person should have to make informed decisions about testing is debated.

There is some research around consumers’ attitudes and experiences of direct-to-consumer services. This has mostly been done in the USA, which is not surprising given that the majority of companies were based there in the early days, with most offering health-related tests. In general, despite concerns for potential psychological harms from testing, these few studies showed that these effects were minimal and people who undertook these tests were generally very positive about them.

Of course, people involved in these studies represent the “early adopters” of personal genomics, and it could be argued that they are likely to be more proactive about their health or more curious about their genes. In one study published in the Journal of Medical Genetics, about one-third of consumers shared their information with their doctor and most believed the test was of high personal utility (http://tinyurl.com/ze5zj7z). On the other hand, there have been stories from individuals who had received information they were not prepared for, including finding unexpected relatives, which led to distressing events in the family.

There has only been a small amount of research in Australia about direct-to-consumer or personal genomic testing. A survey we conducted with clinical geneticists and genetic counsellors in Australia and New Zealand about 5 years ago found that only 11% of these health professionals reported that they had met with individuals to discuss their personal genomic test results (http://tinyurl.com/gr7s3c6). Disconcertingly, only 7% of these genetic specialists reported that they were confident about being able to accurately interpret and explain such results. This most probably reflects their low experience of these test results, but may also relate to the way in which those results were reported.

Around the same time Jacqueline Savard, as part of her PhD studies, conducted a small survey with members of the general public and found that there was limited knowledge of, and interest in, pursuing this type of testing in Australia. People did, however, recognise that genetic testing was available for health and ancestry, and felt that genetic information was as important as non-genetic information in these areas.

In 2012 researchers at Swinburne University and the University of Tasmania conducted a telephone survey of 1000 Australians and found that people were less likely to approve of, and order, a direct-to-consumer genetic test offered by a company compared with a medical practitioner (http://tinyurl.com/j7lxwxk). People were also less trusting of the ability of companies to protect their privacy.

In the past few years there has been increasing media awareness of personal genomic testing, and more companies are being established or marketing directly in Australia, with opportunities for greater exposure to the general public. Have attitudes of the Australian public changed, and what is their understanding and expectations of personal genomics?

In the GeNIOz study we want to understand the Australian public’s experiences and expectations in order to make recommendations about educational, communication and public engagement strategies. Our ultimate aim is to support the public to make informed decisions and to advise policy-makers.

The GeNIOz team comprises researchers with expertise in genetics education, genetic counselling, social science, public health, science communication, bioethics, e-health and social media. The research is funded by a grant from the Australian Research Council.

Last year the GeNIOz team held focus groups in Melbourne and Sydney with members of the general public, ranging from 18 to 80 years of age and grouped into three age categories. We explored people’s awareness of personal genomics, their understanding of genetics and their perceptions of the contribution that genes make to health, including reproductive decision-making, behaviour, fitness and ancestry. We also discussed the potential pros and cons of these types of tests and their own interest in testing for themselves.

Overall, our participants had minimal experience in personal genomic testing, and there were mixed views about the usefulness of these. This personal utility varied according to the purpose of the test and the relevance, especially for the different age groups.

The findings from these focus groups have helped us develop a survey that is now available online. Using social and traditional media, advertising to organisations including genealogical societies, fitness and leisure centres, community groups, professional bodies and other networks we hope to spread the word to inspire Australians to complete the survey.

It doesn’t matter whether people know nothing, a little or a lot about genetics, we still want to hear their views on personal genomic testing. We want to hear from the rest of the world as well so that we can see how Australians compare.

We encourage you, your family, friends, anyone, to complete the survey, which will be available for the remainder of the year to maximise how many people can respond. The survey can be found at www.genioz.net.au

The GeNIOz team is keen to use the power of social media to reach as widely as possible, so visit us at facebook.com/geniozstudy or follow us on Twitter at @genioz_study.


Sylvia Metcalfe is Professor of Medical Genetics at The University of Melbourne and Group Leader of Genetics Education and Health Research at the Murdoch Children’s Research Institute in Melbourne. She is the lead investigator of the GeNIOz study.