15 May 2013
This past year I’ve intently followed developments in personalized medicine, especially cancer, as technological advances in information gathering (DNA sequencing) grossly outpaces our ability to interpret such information. Also outpaced is the rate at which our ethical considerations can evolve and adapt to scenarios yielded by this rapidly changing intersection of information, genetics, and medicine.
This morning something really hit me: roughly 20% of the genome is patented. This is a cursory fact to many, but I did not really appreciate the hurdles that will rise in the path to personalized medicine.
Image: An ACLU banner for the current Supreme Court case
A recent popular NY Times op-ed by the actress Angelina Jolie has lit up social media and the blogsphere on topics surrounding breast cancer, body image and modern feminism, to name a few. Another conversation piece brought to the forefront is the fact that Ms. Jolie opted for her prophylactic surgery largely because a genetic test revealed that she had a (likely inactive) mutant version of one of her BRCA1 alleles, putting her at a much heightened risk of developing breast cancer. The BRCA1 and BRCA2 gene sequences are patented by Myriad, a Salt Lake City based biotech company. They reserve the right for anyone to work with the gene sequence of the BRCA1/2 genes, and have developed a medical genetic test marketed for the hefty price tag of $3000. They can do so because they own a monopoly on these genes.
There’s a long ethical debate on the matter that I cannot summarize here, but I’ll suffice to add that most products of nature cannot be patented. One can’t go out and patent oxygen and charge royalties each time someone takes a breath, so why can the sequence of genes be patented? It’s a roaring ethical debate, but the fact of the matter is that the genetic sequence of one in five of our genes is patented, and anyone looking to gain knowledge about diseases or anything else that might result from the particular sequence, or variation thereof, of these genes under patent could be subject to hefty fees at the user’s expense.
And, because one cannot go out and, say, re-invent a better BRCA1 gene and patent it, the owner of such a patent technically has a monopoly over any service looking to gain information about the genes of a population, or an individual. For those living under the uncertainty of a familial risk for breast or ovarian cancer it is possible to find out if such pathological gene variants run in a family, for about $3000 per person, payable to Myriad. There is heterogeneous, often conflicting information on how much a test like Myriad’s BRCAnalysis is covered by common insurance plans, but it is clear that it remains a financial hurdle for many.
The (antiquated) rationale for gene patents in the 1990’s borrowed logic from the pharmaceutical industry: without protection it’s nearly impossible to market, and without marketing (because we have for-profit healthcare in the U.S.) it’s very hard to develop new medicine or diagnostics for the clinic. That rationale was also influenced by the comparably stone-age vision of genetics in the late 20th century; it turns out that the most common chronic conditions are influenced by many, many genes, and 20 years ago it was almost unimaginable how far our sequencing technology could have come in this time. It would be like in 1950 going from German World War II rockets to putting humans on the moon two decades later, but we did it!
Very soon it might be possible to gain the sequence of all of an individual’s genes (roughly 25,000) for about $1000. (Note: that does not include any annotation, so unless one is a skilled medical geneticist with appropriate software, the language of this book is all but illegible) Still, one could imagine a scenario where it is the interface and algorithms used to asses risk on many genetic factors that are patented, not the genes themselves, and market competition bringing down the cost of these diagnostics to be made affordable and widely available.
A few months back, PBS Nova released a brilliant summary of some of these ethical dilemmas: Are Gene Patents Blocking Personalized Medicine?
‘At the moment,’ says [Francis] Collins, the NIH director, ‘there is a good deal of uncertainty about whether individuals who wish to have their whole genome or exome sequenced are in legal jeopardy without paying a licensing fee to people who own patents on various pieces of the genome. If we end up with a $1,000 genome that comes with a $5,000 fee for royalties, that is not okay.’
It’s tantalizingly difficult to match the law to proper ethics here, because the scientific and technological ground upon which these laws and ethics are built is rapidly changing. Ironically, gene patents are actually hindering personalized medicine at this point. There is a lot of gray area surrounding gene patents, their use, and future applications for the knowledge patented. For the time being, clinical oncologists and medical geneticists are doing their best to dance around these obstacles for better treatment. But, we can do better.