Social media – including Facebook, Twitter and other social networking platforms – are widely credited with fundamentally altering the nature of political discourse and, in some instances, credited as catalysts of political revolution. But social media’s ability to affect change need not be limited to politics, as recent developments in the arena of personalized medicine and consumer genomics continue to demonstrate.
Social Media as a Research Tool. Last month, PatientsLikeMe, an online patient community, made headlines with a study published in Nature Biotechnology in which the company analyzed self-reported data from nearly 600 patients to demonstrate that the use of lithium had no effect on the progression of amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease).
The study’s findings are valuable for ALS patients, who frequently experiment with unproven treatments in an attempt to slow progression of the degenerative disease for which there is not yet an effective therapy. But the long-term impact of the study’s methodological approach, which suggests “that data reported by patients over the internet may be useful for accelerating clinical discovery and evaluating the effectiveness of drugs already in use,” should be felt far beyond the ALS community.
Yesterday brought the long-anticipated oral argument in the Myriad gene patent litigation. After much speculation, the final panel consisted of Judges Lourie, Bryson and Moore. Following the Myriad argument, Judge Lourie was replaced on the panel for the remainder of the day’s cases by Judge O’Malley, lending support to speculation that Judge O’Malley recused herself from the Myriad argument because her lawyer-spouse filed an amicus brief in the case.
What We Learned from the Myriad Oral Argument. For all of the attention focused on the Myriad oral argument, most spectators have only one very practical question: did Monday’s argument provided any meaningful clues with respect to how the Federal Circuit might rule on appeal of the lower court’s startling ruling?
In a word: no. In a few more: we learned nothing from the Myriad argument that leaves us better able to predict how the Federal Circuit will rule in this case.
Beginning this week, we are unveiling a new format for the Genomics Law Report’s regular Twitter Roundup. In addition to cataloging Dan’s @genomicslawyer tweets, we will also be offering short summaries of several key developments pulled from those tweets which, for one reason or another, did not find their way into a full-length post. Think of this as a combination between the always informative Friday Links posts at Genomes Unzipped and The Cross-Border Biotech Blog’s semi-regular feature “This Week in the Twitterverse,” which was the original inspiration for the GLR’s Twitter Roundup.
The movement to confer greater legal protection to individuals’ genetic information has added another participant. Last month, we examined newly introduced legislation in Massachusetts which, if passed, would create a “Genetic Bill of Rights,” significantly expanding Massachusetts residents’ personal property and privacy rights in their genetic information. Since then, in what the Council for Responsible Genetics has termed a “groundswell for genetic privacy building in states,” state legislators in both California and Vermont have introduced new legislation that would confer greater protection upon individuals’ genetic information.
What should we make of this three state “groundswell?” Although not identical in scope or substance to the Massachusetts Genetic Bill of Rights (“MA GBR”), both the Vermont and California proposals appear to reflect a concern (shared by the MA GBR) that, at least when it comes to the use and misuse of genetic information, the current system of federal oversight is inadequate. Then again, as the legislative findings section of the California proposal (pdf) puts it, perhaps “the current explosion in the science of genetics” simply “compels legislative action in this area.”
As regular readers know, in addition to my work as an attorney, in my personal time I am also actively involved with several personal genomics projects. Two of those, Genomes Unzipped and the Personal Genome Project, had major announcements this week.
On Monday, the twelve founders and co-collaborators at Genomes Unzipped (including me) published our genetic data for the world to see. We released both raw data and a custom genome browser. This morning we began the process of talking about the experience of joining the public genomics movement, something that has already affected each of us in different ways. My first post discusses why my decision to join Genomes Unzipped was not a purely personal decision.
On Tuesday, the Personal Genome Project unveiled its latest phase, announcing the enrollment of its next 1,000 participants (the “PGP-1K”), integration with Google Health for phenotype collection and sharing, the upcoming release of a number of new, public whole-genome sequences and several other exciting developments.
Over the weekend, Steven L. Salzberg and Mihaela Pertea published a short but significant article in the journal Genome Biology. In “Do-it-yourself genetic testing,” Salzberg and Pertea describe the creation of “a computational screen that tests an individual’s genome for mutations in the BRCA genes, despite the fact that both are currently protected by patents.”
The software-based test can be downloaded from the website of the University of Maryland’s Center for Bioinformatics & Computational Biology, where Salzberg is the director and Pertea is on the faculty. The test purports to test genomic sequence data against a set of known mutations in the BRCA genes. In addition to representing a conceptual alternative for those seeking to evaluate their risk of hereditary breast cancer, the so-called “Salzberg Screen” is also a direct challenge to Myriad Genetics, the FDA and the existing legal, regulatory and policy regimes that continue to struggle to keep pace with the science and technology of genomics and personalized medicine.
Below, we examine how the Salzberg Screen fits—or does not—within the current legal and regulatory landscape, as well as what it signals for the future of do-it-yourself genomics, whole-genome sequencing and the law.
Last week saw the first annual Genomes, Environments, Traits (GET) Conference, in Cambridge, Massachusetts. Timed to coincide with DNA Day 2010, the conference marked one decade since the publication of the draft consensus human genome sequence. The GET Conference was billed as “the last chance in history to collect everyone with a personal genome sequence on the same stage to share their experiences and discuss the important ways in which personal genomes will affect all of our lives in the coming years.” Not quite everyone with a public personal genome sequence attended – Craig Venter, Desmond Tutu, Glenn Close were all unavailable – but a majority of the genomic pioneers were in attendance and the GET Conference was a one-of-a-kind event.
For those who missed the GET Conference, several high quality recaps are available. The most detailed is A Day Among Genomes, by Carl Zimmer of Discover’s blog The Loom. More targeted reflections on the conference and related events come from Emily Singer of Technology Review summarzing key trends highlighted by the genome pioneers (Singer also has a related piece on the difficulties of understanding human genomes), David Dobbs of Neuron Culture on genomes, cool conferences, and what the hell to tell people about behavioral genes, and Turna Ray of Pharmacogenomics Reporter on the recent Myriad Genetics decision, and its impact on the business of patenting genes. If you’d like even more detail, the Twitter community provided real-time play-by-play.
While there’s no need for a further summary, the GET Conference does provide an occasion to look at the evolving personal genomics landscape in a more holistic fashion.
The first annual Genomes, Environments, Traits (GET) Conference took place yesterday. The GET Conference was an incredible success, with panels, breakout sessions and presentations from all manner of genomic pioneers and futurists, as well as a tremendous audience, both in person and online. In the next few days I’ll share a few thoughts about what we learned at the 2010 GET Conference, as well as what we might expect by the time the 2011 event rolls around. There will also be video from portions of the GET Conference available soon.
In the meantime, if you missed the conference, there was plenty of live Twitter coverage. Everything I tweeted from @genomicslawyer can be found below, and there’s much more at the #GET2010 twitter notebook. Thank you to all those who helped cover the conference online, including GET Conference pioneers (Rosalynn Gill, Misha Angrist), moderators (Carl Zimmer, David Dobbs, Dana Waring Bateman), journalists (Edward Winstead, Emily Singer, Kevin Davies, Aaron Rowe), sponsors (Priscilla Oppenheimer), exome sequence winners (Jonathan Eisen) and many, many more.
Now for Genomes, Environments and Traits in 140 character snips:
Pulitzer Prize-winning journalist Amy Harmon, of The New York Times, reports that a long-running dispute between Arizona State University (ASU) and the Havasupai Indians over the allegedly improper research use of DNA from members of the tribe has been settled.
The research began two decades ago, ostensibly to search for a genetic variant that might be contributing to the increasing rate of diabetes in the tribe. The diabetes research proved unfruitful, but the blood donated by the Havasupai tribe members, and the DNA extracted from it, led to a number of follow-on research projects, grants and publications. It was that research – including searching tribe members’ DNA for variants linked to schizophrenia, and inferring the likely ancestral origins of the tribe’s founders – that led to lawsuits, millions in legal fees and, ultimately, the settlement.
Implications of the Havasupai Settlement. Harmon’s article provides a concise background to the dispute, and briefly describes the $700,000 settlement between ASU and the tribe to “remedy the wrong that was done.” Harmon and unnamed “legal experts” suggest that the settlement is significant because “it implied that the rights of research subjects can be violated when they are not fully informed about how their DNA might be used.”
In some respects, this is a trivial conclusion. One of the most important and well-known elements of the Common Rule – the regulatory regime that governs federally-funded human subjects research – is that researchers must seek, and participants provide, informed consent. Participants that are uninformed cannot provide valid consent and, thus, their rights as subjects are violated. In that respect, at least, the Havasupai case tells us nothing new. (I have not seen the settlement, but I doubt that it will (a) be made public or (b) contain an express admission of guilt from ASU, both factors that will limit its relevance to future similar scenarios.)
New research published this week in the Proceedings of the National Academy of Sciences from Loukides et al. offers up a new method for preserving individual privacy while linking genomic and healthcare data. (“Anonymization of electronic medical records for validating genome-wide association studies.”) Daniel Cressey of Nature News and Katharine Gammon of Technology Review have concise (and free) summaries.
As we’ve written earlier (“Back to the Future: NIH to Revisit Genomic Data-Sharing Policy”), the ability to link – and to share – genotype and phenotype data (including medical records, particularly treatment and outcome data) will be essential to the development of the next generation of genomic research. One of the most common ways to link genotype and phenotype data is to combine genomic data with electronic medical records (EMRs). A particular patient’s EMR may contain everything from basic biographical information to family medical history to current diagnoses, including ICD codes. When it comes to associating genes with medical conditions, researchers rely on International Classification of Disease (ICD) codes to categorize individual patients by disease type and search for shared genetic variations that might play a causal role.
Cracking the Codes. Obviously identifying information (e.g., biographical information) is generally required to be removed pursuant to HIPAA regulations. ICD codes, however, are sometimes retained for purposes of genetic association research and, in some circumstances, a set of otherwise anonymous ICD codes pulled from an EMR can be traced backwards to identify the specific individual supplying the codes.