By Kevin E. Noonan --
One of the effective arguments made by the ACLU in the AMP v. Myriad case was that somehow permitting patents on genes implicated a patient's privacy right in her genetic material. This was also the theme of their public relations campaign to raise money and gain members, and when the Supreme Court handed down its decision, the group hailed it as a victory on that basis (among others).
But an interesting aspect of this debate is that genetic bases for disease (and for methods for detecting or diagnosing diseases with a genetic basis) is not an individual phenomenon. A particular person's genetics is of course very important to them, but developing a genetic diagnostic test depends on a population of individuals who share a particular genetic variant and are at risk for or actually have a disease with a genetic basis. This is one reason why the University of Utah was successful in isolating the BRCA genes (and earlier, before the widespread application of genomic sequencing), due to the genealogical (population) information amongst the relatively homogeneous Mormon population. Records of births, deaths and causes of death extended in some cases into the 19th century, and a similar population demographic was behind Decode Genetics' attempt to sequence the population of Iceland. This reality is not readily appreciated; indeed, President Obama, in extoling the virtues and promise of the administration's "Precision Medicine Initiative," stated that the goal was to pool a great deal of data (for up to a million patients) so we can discern the underlying similarities. And yet, in his very next breath Mr. Obama said that genetic data should belong to the individual. Which misses the point, that no matter who owns the individual data, the value is in the database, not in the individual data points that make it up.
It is helpful to have these factors in mind when considering the announcement last week by Ambry Genetics that the company was going to put online its database of genetic variants complied from the results of their genetic diagnostic tests (from among other things its BRCA testing, which was the subject of a lawsuit it won against Myriad in In re Utah Research Foundation (Myriad III) (see "Myriad Throws in the Towel"). According to this announcement, data from 10,000 Ambry customers would be released into a publicly accessible database, as reported in the New York Times and Genomeweb (see "Putting It Out There"). Predictably, interested parties like the President of the Personalized Medicine Coalition, Edward Abrahams, reacted by saying Ambry "should be applauded" according to the report. But as noted by Professor David Goldstein of Columbia University, data from 10,000 patients doesn't "change the game much." However, Ambry promises to add data from 200,000 patients per year going forward, which if accomplished should achieve one of the President's goals of removing the siloing of genetic data that occurs when these tests are limited to an academic environment. Similar efforts have been announced by others, for example by requesting Myriad's customers to voluntarily submit their genetic data in an effort to replicate the much larger Myriad database of BRCA gene mutations (see "Consortium Launches Public Database of BRCA Data" and "Myriad Genetic Database Under Siege").
Of course, Ambry it still far behind Myriad in the size of its database, which is one consequence of not being the first mover in what used to be a new technology of genetic diagnostics. But these circumstances raise the question of whether the changing paradigm instituted by the Supreme Court's Myriad and Mayo decisions will in fact ultimately promote or inhibit the goal of discovering genetic correlates to disease for the most people and the most diseases. Fortunately, the Court had not put its judicial thumb on the diagnostic scale in 1997, and as a consequence Myriad was able to use its patent exclusivity to justify the costs of developing the support infrastructure of genetic counselors and gynecologists to get the test to patients effectively, and convince payors that the results were reliable enough that paying for tests would reduce the costs of paying for treatment. The effectiveness of these tests being established (by Myriad and others in the ensuing decades), the issue now is whether altruism (purported or actual) will be sufficient to motivate the type of cooperation that is at the base of the President's vision for a public database. Perhaps, but there is just as good a chance that the data will be kept in proprietary databases and thus fail to promote the progress in understanding the genetic basis of disease that the President seeks. For now, policymakers seem to think betting on this view of how technology develops is worth trying. It will take time to determine whether they are right, but if they are not, it will be reasonable to ask at what cost we have decided to take this particular path.