Friday, May 31, 2013

We the Genes!


We the Genes of the United Cells, in order to form a more perfect Union, establish equilibrium, insure homeostasis, provide for the common immunity, promote the general Welfare, and secure Liberty to ourselves and our Posterity, do ordain and establish this Constitution for the United Status of Life. 

In the coming month the United States Supreme Court will likely rule on whether a private company can hold a patent on a human gene.  The company in this case (Myriad  Genetics) has spent a substantial amount of money and time figuring out that mutations in the BRCA1 and BRCA2 genes are associated with an increased risk of developing early-onset breast and ovarian cancer.  Because of this investment the company feels entitled to hold a monopoly on testing and reporting this information to patients who ask their doctor to be screened.  Recall Angelina Jolie's double-mastectomy headlines in recent weeks.

The company feels it has the right to be the only one to read a particular page in a book handed down to a woman by her mother and father.  This book of genes is called the genome. The human genome like the genomes of all other living things has been copied, proof-read, edited, re-drafted and copied again and again countless times over earth's rich and chaotic history. The current edition of your genome is without question a product of nature.

PCR happens.
Using a routine process in basic scientific research called the polymerase chain reaction (PCR) the company can isolate the BRCA1 and BRCA2 genes.  Once the genes are isolated from a blood sample they can be read by any of the well established methods for DNA sequencing.  Neither the method for isolating the genes, nor the method for sequencing the genes are at issue in this case. The patents associated with these decades-old processes have long since run out.  No, The object in question in this case are the BRAC1 and BRCA2 genes themselves. 

Can a company own exclusive rights to read your genes?

I say no. We ought to have the right to pursue any path we like to uncover the information we were each born with. Whether that path be through Myriad genetics, the Harvard-based personal genome project, or sending your blood samples to whoever has access to a PCR machine. Trust me, they are pretty darn common. We should have access to the secrets inside our own cells.

I think there is a fundamental misunderstanding among the justices in this case. The misunderstanding is that in cases of genetic testing the "product" is not necessarily any physical thing but rather naturally occurring INFORMATION.

A technical work-around attorneys representing Myriad Genetics are trying to use is that coding, composite, complimentary DNA (cDNA) is not present in nature and can be patented because it is only produced by scientists. cDNA conveys the sequence information of messenger RNA produced by nature. Though the cDNA itself can be construed as product of human tinkering, the information cDNA holds is not. The information therein is an impression of nature, like a plaster-cast of a wolf-print in the mud, or the ink-blot of a small mouthed bass.  The key piece of information the attorneys for Myriad Genetics leave out is that the cDNA is not used directly but only to gather information from nature.

The patient dos not need or care to have the amplified DNA prepared from their blood sample, the patient wants to know some information so they can make an informed decision about how best to proceed with preventive health measures like a mastectomy or hysterectomy.  Genetic information is a product of nature and is therefore off-limits according to a century of court precedent.

What incentives will researchers have to make discoveries?

While listening to the Oral Arguments in the case between the Association for Molecular Pathology v. Myriad Genetics I am struck at what little credit is given to the motivation propelling scientific discovery.  It seemed to me that the Justices kept asking questions with a particular concern for maintaining a clear market incentive for big genetic discoveries.

It was almost as if the justices were under the impression that market forces are the main drivers of scientific discovery.  This may be a matter of opinion but I do not think Charles Darwin, Jonas Salk, or Carl Woese were in it for the money.

The tone of the Justices' questions regarding market-incentives and scientific discovery reminded me of a conversation on the recent Freakonomics podcast in which the hosts Stephen Dubner and Steve Levitt have the following exchange.
DUBNER: Since fighting cancer is big business, what’s the incentive to find a cure?  
LEVITT: So I would say the incentive for a cancer cure is not really a market incentive, it’s a being a hero kind of incentive. That there are so many doctors out there, researchers, medical researchers who if they could be the one who was forever remembered as the one who prevented cancer, who got rid of cancer, they would do anything to do that. So I think there are really strong incentives out there. And they aren’t exactly market incentives, although I think that person would be quite rich anyway...
I think the "being a hero kind of incentive" is the kind of incentive that pushes the world into a progressively safer more peaceful context. A context where human life-span lengthens and justice systems move away from a punitive to a rehabilitative mode. It is my opinion that knowing as much as we can about our bodies and specifically our genes will allow us to attain an unprecedented state of self-awareness, health and social responsibility.
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