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What you think about the benefits and risks of whole genome sequencing

1 June 2015
Appeared in BioNews 804

Following on from last week's article (see BioNews 803), we now turn to the final questions of our 100,000 Genomes Project poll, in which we asked for your views on the benefits and risks of participating in the project.

First off, we asked 'What do you think might be the benefits of participating in the 100,000 Genomes Project?'. We gave respondents 14 options to choose from, plus an 'Other' option where they could submit alternative responses. These options were not mutually exclusive, so people could select as many as they liked.

Of those who responded to this question, the percentage that selected each of the options was as follows:

Benefits of participating %
Enabling new scientific discovery and medical insights 79
Improving health of future generations 69
Making medicine more tailored and personalised 68
Improving NHS genetics services 58
Helping UK to become world leader in genomics 52
Helping development of the UK genomics industry 52
Giving me a diagnosis 44
Getting my genome sequenced 42
Improving my family's health 42
Helping me make reproductive/family planning decisions 34
Giving me access to better care 30
Improving my health in next 12 months 20
Helping the NHS financially 19
I don't think there are any benefits 5
Other 2

It is striking that altruistic perceptions of the benefits of participating were the most popular. 'Enabling new scientific discovery and medical insights' topped the list (opted for by around four-fifths of respondents), followed by 'improving the health of future generations'. The next most popular options involved benefits that are likely to accrue to oneself and others, and were opted for by more than two-thirds of respondents - 'making medicine more tailored and personalised' and 'improving NHS genetics services'.

Benefits that accrue principally to oneself - 'giving me a diagnosis', 'getting my genome sequenced', 'improving my family's health' - came lower in the list, opted for by slightly less than half of respondents. One-third of respondents thought that 'helping me make reproductive/family planning decisions' might be a benefit of participating.

This last figure is interesting in light of speculation (well rehearsed in academia and science fiction) that people will in future make greater use of genetic data in deciding whether and with whom they have children. At the very least, people will be interested in the risk of transmitting heritable conditions to their children. Genetic counsellors, who already advise patients on this subject, will undoubtedly continue to play an important role (indeed, may play an even more an important role) in an era of whole genome sequencing.

The 'other' benefits that people thought they might derive from participating in the project included 'helping people in my disease area/patient group'; 'keeping an eye on early symptoms if diagnosed with a treatable condition'; 'giving me a copy of the data'; 'genealogy'; 'learning about human evolution and biology'. There were also respondents with specific interests in 'Gilbert's syndrome and research ending other rare diseases' and 'prediction of toxic effects of certain drugs on particular tumours'.

Not everyone was enthusiastic - 5 percent said 'I don't think there are any benefits of participating'. There was also a minority who submitted sardonic views via the 'other' option, saying that the benefits of participation might be 'increasing profits of pharmaceutical companies' and 'helping private companies profiteer by exploiting what should be a not-for-profit resource'.

Having asked about perceived benefits, we then asked about perceived risks, with the question, 'Do you think participating in the 100,000 Genomes Project could affect any of the following?'. We then gave four options: 'ability to get health insurance', 'ability to get life insurance' and 'ability to get a mortgage' (these three options were not mutually exclusive), or alternatively 'none of the above'.

Of those who responded to this question, 49 percent thought that participation could affect one's 'ability to get health insurance', 49 percent thought that participation could affect one's 'ability to get life insurance', 30 percent thought that participation could affect one's 'ability to get a mortgage' and 46 percent opted for 'none of the above'.

These figures are interesting when one considers that a UK moratorium currently exists to prevent the results of predictive genetic tests from affecting people's insurance premiums. Nonetheless, around half of respondents thought that participation in the project might affect their ability to get insurance. This suggests that the existence of the moratorium is either a) not known, b) not understood or c) not sufficient to assuage people's concerns.

In order to find out more, we concluded the poll by asking respondents 'Why?' - that is, why they believed participation in the project could (or alternatively, could not) affect their ability to get health insurance, life insurance or a mortgage.

Some respondents who had concerns about insurance and mortgages gave no indication that they were aware of the UK moratorium: 'one could well be asked if one had participated in genetic sequencing and what the results were'; 'companies will want access to this information'; 'health insurers will naturally want to know about risks for the person they are insuring'; 'the data will undoubtedly be sold to insurance companies and third parties at some point'. There were particular concerns that the insurance industry would not only use the data, but also misinterpret the data: 'insurance companies will potentially misinterpret the meaning of the findings'; 'genetics isn't destiny anyway, but I don't expect insurance companies to actually be reasonable about that'.

Other respondents who did not share such concerns indicated that they were aware of the moratorium and that they considered it to be a reliable safeguard: 'there is a moratorium preventing insurance companies asking about genetic information'; 'current moratorium on use of genetic test results'; 'moratorium on use of genetic testing for determining premiums'; 'as long as the moratorium continues, that prevents such companies from requesting this information'.

Interestingly, there were a number of respondents who knew about the moratorium but did not consider it to be a reliable safeguard. A common concern was uncertainty over the future renewal of the moratorium: 'moratorium is not indefinite'; 'current moratorium is voluntary and time-limited'; 'the moratorium on insurer's access to genetic information may not be renewed'; 'although there is a moratorium currently, I don't know what will happen in future'; 'at some point in the future the insurance companies may get access to the results'.

Some concerns were prompted by other examples of the (mis)use of data. There were respondents who mentioned, a separate government initiative which is currently in its preliminary stages: 'I don't trust them after'; 'the project will mean commercial insurance interests eventually obtain personal confidential data'. Other respondents mentioned examples of the contentious use and leaking of data in the USA: 'the Edward Snowden leak has shown that data isn't used responsibly by authorities and is passed irresponsibly to other parties'; 'I do not trust that any data anywhere can be 100 percent secure - ask the US military'.

However, contrasting and equally forthright views were offered by those - almost half of respondents - who did not think that participation could have consequences for insurance or mortgages. Some were sceptical about whether genomic data generated by the project would be of any use to the relevant companies: 'very little of the information in the genome is predictive after accounting for environmental factors and other covariates'; 'in the absence of clinical and genetic (family history) data, the results are currently uninterpretable'.

And, finally, many respondents were reassured that the data would not fall into the hands of insurers or mortgage lenders in any case: 'access to the data will not be permitted for these groups of companies'; 'I am aware of the data security measures and the anonymisation of the genetic data'; 'genomics data is secure and anonymised for research use'; 'I'm confident of steps taken to ensure data privacy'; 'I trust Genomics England's promise to prevent the use of the genetic data for financial gain'.

In conclusion, these poll results suggest that large numbers of people believe there are significant benefits to participating in the 100,000 Genomes Project and believe that these benefits outweigh any risks. At the same time, however, there is a constituency of people who - to a greater or lesser extent, and for a variety of reasons - are not persuaded of this view. Further public discussion is therefore warranted, to improve public understanding of the project and to gain greater insight into any outstanding public concerns.

Once again, we would like to thank everyone who took the time to respond to the poll, everyone who attended our 2014 events and suggested questions for the poll, and our partners at Genomics England - the company established by the Government to carry out the 100,000 Genomes Project, with whom PET organised last year's events and this year's poll.

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