Whose genes are they?

Published in Protocols & Methods

The first gene patent was granted in 1982 for the sequence encoding insulin. Today ~ 20% of the human genome is patented. And the controversy is as alive as ever as we discuss in this month’s editorial.

Gene patents have supporters who see them as essential for the development of diagnostic and therapeutic products and detractors who see them as hindering research directly and indirectly.

We think that Myriad Genetics’ patents on BRCA 1 and 2, and how these patents have been upheld in court challenges in the US, illustrate how gene patents can elicit cases of preemptive obedience which is problematic for patients and researchers alike.

While it is not clear that Myriad’s patents on BRCA 1 and 2 are infringed by technology that does not rely on isolated cDNA, such as next generation sequencing (NGS), no company in the US seems to be willing to take that risk. AmbryGenetics, for example, a company offering an NGS-based test for mutations in 14 breast cancer related genes, specifically excludes BRCA 1 and 2.

For patients in the US with a family history of breast cancer this is bad news, since it leaves them with Myriad as the only provider for mutation testing in BRCA. And there is no way to obtain a second opinion, particularly for negative results.

Not so in the UK. There Myriad holds fewer and more restricted patents and NewGene, a company owned by the Newcastle Hospitals NHS Foundation Trust and Newcastle University, offers full sequencing of the BRCA1 and 2 coding regions and some introns. We are not saying that NewGene’s test is superior to Myriad’s, though it is certainly cheaper. But it shows that the latest technology can quite rapidly be translated into the clinic, if there are no legal hurdles.

To understand the impact of the many different mutations in the BRCA genes researchers need to have access to a large patient population. For this purpose the NIH founded the Breast Cancer Information core (BIC) mutation database to gather such patient data.

Myriad as the sole provider of BRCA mutation tests acquires large amounts of patient data and until about 2006 the company contributed variants to BIC. Then they decided to keep them proprietary.  Researchers were not happy about losing access to such valuable information. In response Robert Nussbaum from UCSF started an initiative to gather mutations directly from physicians. He is asking them to black out a patients identity and forward the mutation report Myriad provides so it can be incorporated into BIC. This information, together with many international contributions, has led to over 14 000 variants in the database.

With personalized medicine on the rise and many people interested in having their genome sequenced restricting who can look at a particular gene makes little sense and the much coveted $1000 genome will hopefully not be rendered ineffective by patent laws.

As always we are keen to hear your views.

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