Blog Post June 07, 2013

The global alliance wants your genome data - why that's a good thing

We're barely halfway through June, and it's already been a huge month in the news for genetics and genomics. But the most visible news items, while important, eventually obscured an announcement that is, in my opinion, potentially the most important in the long run.

There was, of course, the Supreme Court ruling on BRCA1/2. It was the subject of intense anticipation, then intense coverage of its every nuance. Like just about every commentator, I was relieved to see the patent struck down for a naturally occurring gene sequence. But like many who have a genetics and genomics focus, I was perturbed by the ruling’s handling of cDNA, starting with the errors in its definition. If you don’t understand the science, the legal ruling is unlikely to provide clarity. And one justice’s participation in the ruling while admitting his lack of understanding underscores the problem. I highly doubt we’ve seen the end of legal battles in this arena.

Then there is the ongoing saga of genomic data privacy and security. Its durability as a news item is of increasing concern, especially after it was so thoroughly flogged early this year, including by me. Don’t get me wrong, it’s an important issue within the field, yet I have never thought of data management as a particularly sexy topic. But no, people apparently continue to be surprised and discomfited by the fact that genome data is not completely secure and never really has been. The vague sense of outsized threat this poses must be addressed if genome data is to become anywhere near as valuable as it can, and I would argue should, be.

The global alliance

Which brings us to the really big news, the formation of a new genomic data “global alliance.”* The initial announcement two weeks ago, including the release of a white paper entitled “Creating a Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data,” was not ignored by any means, garnering coverage in The New York Times as well as the scientific press. But it came and went quickly—thanks in large part to the BRCA ruling—and it’s likely that the gritty details will need to be ironed out and challenges overcome in relative obscurity. The ultimate success or failure of this or similar efforts will likely shape the path of genomic medicine for many years or even decades to come, however.

Why is it so important? Three reasons jump off the pages of the white paper. First, nearly 70 organizations with global reach have already signed on for the effort,. Second, the participating institutions and individuals are top-level, the sort that can get things done, and include large funders such as the NIH and NCI in the United States. Finally, what they write about is so fundamental and so sensible that it frankly took me by surprise. Reading white papers is seldom exciting, but this one was for me. There are many challenges ahead for clinical genomics, but here at long last was proof that many of the top minds are not only on it, they are beginning to work together in constructive ways.

A desperate need for genome research

The genesis of the global alliance effort is nicely summed up by the white paper authors: “In practice, however, we are not organized to seize this extraordinary opportunity [re: genomics]—nor are we on a path to do so. . . . If we remain on the current path, the likely outcome will be a hodge-podge of balkanized systems—as developed in the U.S. for electronic medical records—a system that inhibits learning and improving health care.” There is a desperate need in genomics, therefore, to develop international processes and standards that allow meaningful and secure data sharing. Without it, genome analysis may never accumulate a big enough N—the number of individual genomes in the research sample—to acquire the power needed to realize the potential of clinical genomics.

The authors go on to elaborate:

Today, with incumbents established, the US medical record system is nearly impossible to change.

In contrast, the Internet, WWW and Human Genome Project are open, despite efforts to create walled gardens. Secure systems make it possible to transmit private information on the Internet (e.g. financial transactions). The resulting explosion of innovation has transformed our world.

As we enter the era of widespread genome sequencing, we face another such fork in the road.

They propose that the alliance be composed of distinct units that address the subject areas vital to genomic progress: Regulation, Law and Ethics; Technology Standards and Platform[s]; Clinical and Phenotypic data; and Public Engagement. I find the latter item noteworthy, especially in light of the ongoing data security unease. Little effective genomic data sharing or clinical implementation will happen without pro-actively engaging and educating a number of constituencies, so it’s encouraging to see these considerations front and center in the early discussion.

The genome network effect

There are significant barriers. Unfortunately, the global alliance does not really exist yet. At this point an organizing committee is rallying support—and presumably doing a good job, given the list of supporters/participants already signed up. But there will need to be continued effort and, ultimately, people with resources to carry out the alliance’s mission. Setting up an effective international organization is no easy task, so the organizing committee will need to keep up its current momentum.

Success will also depend heavily on what the white paper terms the “network effect,” in which participation yields greater participation, significantly increasing the utility and value of the shared standards and data over time. In other words, as Michael Stratton, director of the Sanger Institute in the U.K., says in Nature News, “The project’s success will depend on the alliance convincing organizations that it is worth giving up some control to gain access to a broader universe of data.”

It makes sense, but it also poses a danger. If a critical mass isn’t established quickly enough, too much data will remain outside the fold. And while few will likely question the goals of the alliance, genomic data is still a valuable commodity, so there will be researchers and institutions who resist sharing.

All I can say in conclusion is that I very much hope the alliance succeeds. This is the time, these are the organizations, and these are the people to make it work. So as the spotlight fades and the hard work begins, it’s important to keep on eye on the alliance’s goals and the benefits we can realize from reaching them.

*Personally, I hope they eventually adopt a name that doesn't conjure thoughts of the “evil empire." With the current climate also exacerbated by the recent NSA leaks, a "global alliance" to take care of your most personal data carries understandably negative connotations.