Millions of women in the US will have access to affordable genetic screening for cancer after the US Supreme Court ruled that a commercial company cannot patent human genes.
The screening tests for mutations in the BRCA1 and BRCA2 genes that increase someone’s risk of developing breast cancer. Actress Angelina Jolie recently revealed that she had undergone a double mastectomy after the test revealed she had an 87% chance of getting breast cancer.
But since the 1990s, the BRCA1 and BRCA2 genes have been patented by Myriad, a Utah-based company, which charged at least US$3000 (£1,900) a time for the test. It argued that removing the patents would stifle innovation.
But after a successful legal challenge to the company’s monopoly - unanimously upheld by judges - US labs will now be able to carry out the tests for less than US$200 (£127) a time.
The court upheld patents for synthetic cDNA “because it is not naturally occurring”.
What does the ruling mean for women who may be at risk of cancer? And will it stifle research leading to less? A panel of experts responds below
Professor Anneke Lucassen, Clinical Geneticist, University of Southampton:
Looking at the reaction to the news and on Twitter the decision is seen as a victory. The reason health professionals and patients are happy is because you can’t do genetic tests on those genes without paying a fee to Myriad.
But companies can still patent synthetic DNA, and I wonder what this will mean in practice. In order to do DNA tests you have to copy it first. Because you can’t sequence it directly, you have to copy the naturally occurring [DNA] compound to analyse it. Those copies aren’t covered by the ruling as far as I can see. If that’s the case then they can still patent those and this isn’t as big a victory as the headlines are making out. There’s still a loophole.
In the UK and Europe the decision wasn’t so eagerly awaited as we weren’t strangled by Myriad. In the US they had to pay around $3000, whereas here it costs some £500 a go because the European Patent Office doesn’t observe US rules. In practice we haven’t had to pay Myriad for testing. But the principle of not being able to patent people’s genetic code is of course as welcome here as in the US.
Professor Marcus Pembrey, Emeritus Professor of Paediatric Genetics, University of Bristol
It’s good news. I’m a clinical geneticist in paediatrics and I’ve dealt with families with inherited disorders. We were involved in early work on haemophilia and other types of monogenic conditions, which are genetically determined and only involved only one altered gene, to help families who had this problem running through them. It was a great surprise at the time that companies were able to patent.
I’m not against patents. But it might be in the clever way someone comes up with for analysing it - as happened with polymerase chain reaction which was a clever idea of taking a bit of DNA and amplifying it so you could look at lots of DNA at the same time. That was a good example of a patent and a clever idea that pushed the research field forward very quickly.
Trying to patent gene sequences and the fault in them - it’s a naturally occurring thing and not patentable. You might argue that it’s a legal issue not an ethical one but there’s an element of ethics. It’s trying to extract additional profit from what to some extent is a human right.
Professor Alan Ashworth, head of the Institute of Cancer Research and part of the team who discovered BRCA2:
The argument that innovation will be stifled if there are no rewards for “invention” is particularly pernicious. Commercial organisations can be exceptionally innovative and it is only right that this is rewarded. But patenting is not the only way to ensure innovation.
Tests for potentially fatal BRCA mutations are already saving lives by diagnosing women at highest risk of developing breast and ovarian cancer. By identifying women who carry high-risk BRCA mutations, doctors can help them make decisions on their future treatment, for example by offering a preventative mastectomy.
When we found the BRCA2 gene our aim was that our discovery was used to help cancer patients.
Professor Julian Savulescu, Uehiro Chair in Practical Ethics and Director, Institute for Science and Ethics, Oxford University:
I don’t think it is clear at the moment whether this decision is good or bad. Patents are there for a period of time and the misunderstanding people have is that these genes are owned by the company. The patents are held for seven years to enable companies to recoup investment. So during that seven years you could say research is restricted.
Create mechanisms to make it worthwhile. It may be that patenting isn’t the best way but it’s an empirical issue. The legal system might be irrational but it is very important to know what the consequences are. It’s very easy to say it should be free.
Patents are all of limited timespan. It could be that in the longer term this is the best way to maximise investment. I do think you need to provide a mechanism. We don’t live in a Communist state and I’m concerned you have very long term consequences on research.
On the other hand we want as many people as possible to access these tests and make decisions on the basis of them. Angelina Jolie did a good thing in raising public awareness of these possibilities. But it’s hard to know at this point whether this ruling will have an impact.