Genomics: Knowledge is a constraint on knowledge

On Monday, the Supreme Court spent approximately an hour hearing oral arguments in the Association of Molecular Pathology v. Myriad Genetics, Inc. case. This is a case with potentially landmark potential. At stake is the question of whether genes are patentable, and if so, within what conditions. As always, SCOTUSblog provides an essential, “plain english” recap of the argument proceedings.

Many observers of the case have pointed out that the advances in sequencing technology over the past decade have potentially minimized the impact of any ruling, and indeed, the importance of genetic patents within the field (see the NY Times coverage for more on this point).

What I would like to comment on here, however, is a point that is emphasized in both the plain english recap from SCOTUSblog and Lyle Denniston’s recap, “Analogies to the rescue.”

It is a natural human trait — of judges, too — when one doesn’t quite grasp a very complex idea, to reach for something commonplace for comparison. For the nine Justices of the Supreme Court, imperfectly versed in biochemistry, it was most useful on Monday to talk about how a baseball bat gets created, and how the sap of a plant in a forest in the Amazon might be analyzed for its powers to cure human disease. But those very analogies strongly suggested that an inventor probably cannot get a patent for taking something out of the human body, and manipulating it without changing its nature.

Understanding the complexity of the world around us often necessitates the use of comparative references. Exactitude is a privilege afforded by knowledge, not one that exists naturally. How tall is the tree outside of my office? Well….it is taller than the building, so it is about 3.5 stories tall. If I want to go through the time to figure out how to exactly measure it, maybe I could tell you it is 38 feet in height, measured perpendicularly from the ground at its trunk to its highest point. The latter explanation is certainly more exact, potentially more useful, but also requires more knowledge and effort on my part.

Genetics is complex. Gene function and the pathway between gene expression, gene product and phenotype is not only complex, but varied from genetic system to genetic system and potentially from environment to environment. The ability of the Supreme Court justices, none of them trained biochemists, geneticists, or scientists of any stripe, to understand in technical detail the issues surrounding isolation of a gene, depends in part on their individual knowledge and their ability to construct analogies or metaphors that allow them to bridge the gap between what they know and don’t know, and the issues presented in this case.

One of the topics I have been exploring in my personal genomics class this semester is the issue of what constrains our ability to produce genetic knowledge from genetic information (i.e. the raw data produced through genetic sequencing). One of the constraints is computational power, as the pace of genetic sequencing over the past decade has far exceeded Moore’s Law. But another important constraint is the knowledge we have. Much as evolution can only operate on the heritable variation available to it, the production of knowledge can only operate on the basis of existing knowledge.

The completion of the Human Genome Project a decade ago has led to a huge increase in what we know about the structure, diversity and function of the genome. And yet a lot of that increased knowledge has highlighted how much we still have to learn–from an evolutionary, molecular and developmental perspective–about how the genome operates and informs phenotypic variation. In the case of personal genomics, its utility is in many ways a function of your own knowledge of genomics. The more you know about genomics the more knowledge you can generate from the raw data that is your genetic sequence. That the justices are not terribly knowledgable about genetics is comforting to Amy Howe in her plain english recap.

Whatever the result, if (as they are for me) these concepts are difficult for you to understand, you can take some comfort that the Justices – although extraordinarily smart lawyers – seemed to have trouble understanding them too. And the good news for us is that they – not we – now have to write an opinion to resolve those issues.

I would instead suggest that their lack of specific knowledge in this case constrains their ability to produce a truly informed judgement. Knowledge constrains knowledge.

About Adam Van Arsdale

I am biological anthropologist with a specialization in paleoanthropology. My research focuses on the pattern of evolutionary change in humans over the past two million years, with an emphasis on the early evolution and dispersal of our genus, Homo. My work spans a number of areas including comparative anatomy, genetics and demography.
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