Worldwide, at least US$3 billion is spent every year on genetics research, with half coming from governments. Yet less than 3% of this is spent on research addressing how to incorporate genetics into medical practice, and even less is spent applying genetics to the prevention of disease.
Right now, optimism about the potential of genetics is high. “Breakthroughs” in genetics are reported with enthusiasm, and genetics research continues to comprise a large proportion of all funded research. Funding is often awarded because researchers claim once we understand the genetic components of a disease like cancer, we will be able to better predict, prevent, and even cure disease. Future cures are often reported long before they’re available.
However, some scientists and medical specialists are starting to question whether the money invested in genetic research is well spent. Are we getting the promised benefits from this investment?
Do people want genetic testing?
Here’s an example in which genetic testing applies. Once a person is found to have a hereditary colorectal cancer syndrome, usually after a diagnosis of colorectal cancer, all members of the family can be offered genetic testing for the particular genetic mutation found in the person with cancer.
Family members found positive can then be screened more intensively to prevent future colorectal cancers. Those found not to carry the mutation will not need intensive screening, despite the family history. Research on how this works in practice has found that only about half (56%) of nearly 2,000 eligible family members underwent testing. Those untested were also less likely (compared to those tested) to undergo other forms of screening for colorectal cancer.
We know that for most people who have predictive genetic testing, the process is psychologically beneficial and improves their risk perception. But we know less about the attitudes of people in the community, outside of academic institutions and specialist clinics, who are not having testing. Along with colleagues at the University of Melbourne, I study how genetic testing is received in Australia.
We have previously found only 56% of 862 people offered predictive genetic testing for hereditary colorectal cancer as part of their participation in a research study actually went ahead with a test, and received their results. Earlier, we found similarly low rates of uptake for hereditary breast cancer.
Why don’t people want genetic testing?
We recently published the results of a study that explored the reasons these people declined genetic testing.
We interviewed 33 men and women who declined the offer of genetic testing and found they were at one of four stages in the process of declining genetic testing:
2) weak intention
3) conditionally declining
4) unconditionally declining.
Four were considered “uninformed” because they had not understood the offer, so were not in a position to make a decision. Nine described a weak intention to have genetic testing. They knew there was a test available, and they understood some aspects of it, but they were putting off going ahead with the test because they were not convinced the benefits would outweigh the risks.
Another nine participants were “conditionally declining” testing, as they had decided not to pursue testing now, but felt they may change their minds in the future. Their reasons for not wanting testing were either that it wouldn’t make much difference, or there would be negative side effects of testing. The latter includes increased worry from a positive result, or concerns it would impact access to life insurance products (premiums could rise or they could be declined cover).
The largest group of 11 participants were “unconditional decliners” who, unlike the other groups, could not imagine going ahead with genetic testing either now or in the future. While the reasons were similar to the previous groups, they were not open to changing their mind.
So what does this mean for genetic testing?
This research reveals several things – first, that community understanding of predictive genetic testing is poor in some groups, and second, the value assigned to this testing is far lower than the hype around genetic discoveries would suggest.
Third, it reveals that significant structural barriers stand in the way of genetic testing, particularly the concern life insurance companies can use genetic test information to refuse cover or adjust premiums.
If genetic tests are going to fulfil their promise of contributing to cancer prevention, they need to be seen as something of value, and they need to reach everybody in the community, not just a select few. There needs to be more effort spent engaging with the intended recipients of new technology, and potential barriers, earlier in the process.
It’s foolish to ignore the perceptions, assumptions, and concerns of the very people who are meant to use the technology. Predictive genetic testing for hereditary colorectal cancer is in some ways a straightforward test, with clear consequences for medical management. Yet this testing is far from mainstream or acceptable for the people we spoke to.
It’s time to devote more than 3% of funding to translation, to ensure scientific advances in genetics result in improved human health and we get value for the whole society from the money spent on research.