john hawks weblog

paleoanthropology, genetics and evolution

Personal Genome Project

  • Finding the scary genes

    Wed, 2012-03-07 21:39 -- John Hawks

    John Lauerman reports in BusinessWeek on his experience participating in the Personal Genome Project:

    “This is probably the most serious variant that we’ve actually seen to date in the study,” Thakuria said. About two out of 1,000 people have the JAK2 variant, which encourages blood cells to grow and divide. The variant is used to diagnose three rare blood disorders, including primary myelofibrosis, which is potentially lethal. “I don’t want you to fret about this,” Thakuria said, before giving me fresh cause for worry: a study, published in 2010, in which 10,507 people in Copenhagen gave blood samples and were followed for as long as 18 years. The Copenhagen researchers went back and analyzed the blood samples: 18 had the JAK2 variant; 14 of those 18 with the variant developed cancer in their lifetimes, and all 18 died within the study period. How, exactly, was this helping?

    Finding that you carry a harmful genetic variant, and that there's nothing you can do about it, is probably the most frightening outcome when obtaining your personal genetic information. Some say they would rather not know about such genes.

    Several others have commented on Lauerman's piece, including Matthew Herper at Forbes, and the 23andMe blog. Naturally, they have different takes.

  • Genomes to the people

    Wed, 2011-02-02 18:29 -- John Hawks

    Misha Angrist has written a strong guest post at Daniel MacArthur's "Genetic Future", taking a clear stand in favor of disclosure of genetic information from research studies. In response to the argument that full access to genetic information might "disturb" people:

    If you told me I had an inoperable tumor, don’t you think that would mess with my head? In the old days, doctors wouldn’t tell their patients such things (I know, I know—you’re not my doctor). But anyway, who the hell are you to decide what might or might not mess with my head? How do you know I won’t be more upset if you DON’T tell me? And why would it jeopardize my ability to get insurance? Because I’m only asking you to disclose it to ME, not to append it to my medical record or my Facebook page. Your consent form says you will take all kinds of steps to keep my information confidential, but that it might be examined by the FDA, the NIH, etc. So…that means it would be okay for some bureaucrat to peruse it but not me?

    Well, of course. Bureaucrats mind your own business so you don't have to!

  • Genomes unzipped, ancestry revealed

    Mon, 2010-11-01 11:25 -- John Hawks

    Last week I linked to Genomes Unzipped participant Joe Pickrell ("Ancestry unzipped"), who was working through the ancestry calculations that made his genome appear to have been partially Ashkenazi Jewish in origin ("Am I partly Jewish?").

    Now, Pickrell updates the story ("Am I partly Jewish? An unexpected turn of events"):

    As I was mulling over these sorts of issues, I sent the link to my previous analysis to a family member. I didn’t really expect this person to find it that interesting, but hey, you never know. I then got a phone call. I’ll summarize a couple days worth of moderate confusion, second-hand reports of conversations with distant relatives, and family intrigue with this: as it turns out, one of my great-grandparents was indeed a Polish Ashkenazi Jew who immigrated to the United States around the turn of the century. I, obviously, was completely unaware of this.

    Before coming to this deeper genealogical discovery, Pickrell summarizes some additional comparisons that made it difficult to explain the genetic results by errors in assumptions of the methods. This is the kind of outcome many people are hoping they will get from their genetic information -- a prompt for distant relatives to uncover family histories that, in many cases, they didn't know would be interesting. Or that in the past some wanted to forget.

    Razib ponders the question "Do ancestors matter?" Obviously they matter deeply to some, to others not so much. Unexpected discoveries from genetic information are not new, they're at least as old as blood typing. There is already a large community of people who find meaning from genealogical research and comparisons with others -- research that ultimately can illuminate only a very small part of any individual's genealogical history. Genetics doesn't necessarily offer any more than this. Any one person's genes come from only a small fraction of her ancestors.

    But the DNA may inform about a different part of one's genealogy than oral and written history. And it may give rise to a deeper idea of ancestry than cultural reckoning -- which in a mere fifty years can drive people to forget some of their ancestors and promote fictive ones.

    Synopsis: 
    A researcher gets a genealogical surprise after making his genome public.
  • Genomes unzipped, unzipped

    Mon, 2010-10-11 14:49 -- John Hawks

    Genomes Unzipped, has finally unzipped:

    From today, we’ll be making all of our raw genetic data and the reports generated from these tests freely available online. As the project proceeds, we aim to obtain data from an ever larger array of tests – ultimately extending to whole-genome sequencing – and release it openly. Right now you can freely download the 23andMe data from everyone in the project from this website.

    It's a great project, putting personal stories and reactions together with a scientific view on genotype data. It's also the perfect topic for a blog -- just the right amount of navel-gazing. It's worth doing just to make you figure out how to use the browser software.

    What I wonder is, how much will personal genomics be like nude beaches? I mean, it's been a long time since the first nude beaches, but most people don't take advantage of the opportunity. Clearly, there's variation in different countries! But most people neither feel compelled to see others' data nor feel comfortable sharing their own.

    Well, they used the word unzipped, not me!

  • Whole genome action

    Thu, 2010-04-29 21:26 -- John Hawks

    Daniel MacArthur writes a thoughtful summary of a new study of the DNA of Stephen Quake: "What can you learn from a whole genome sequence?"

    That means that the real benefit of whole-genome sequencing over other assays - the uncovering of truly novel or rare genetic variants - has much less of an impact than it should, because in most cases it's impossible to assign function to such variants. Indeed, it's striking in this study that the really compelling, actionable findings - the increased risk of myocardial infarction and metabolic diseases, and the drug metabolism effects - come largely from common variants, most of which would be captured by chip-based assays such as that used by 23andMe.

  • The Church of personal genomics

    Fri, 2009-12-18 17:59 -- John Hawks

    I complained mightily about the problems I had getting George Church's essay ("The Genome Generation"). Church is the major organizer of the Personal Genome Project, and advocates the idea that individuals should release their genetic information to the public.

    In his essay, Church begins by pointing to the coming benefits of genetic research, refers to the need to support the "altruists" who provide their information openly for research, and ends by making a generic call for genome sharing:

    As "the first genomic generation" we will set the rules that many future generations may follow. Will we treat our genomes like our faces, which we share publicly even though they reveal details about our health, ancestry, and personality? Or will we be forced to hide them from view?

    Talk about a leading question! Will you remain hidden behind your genetic burka?

    I'll ask a different leading question: Is it generally a good idea to release your personal information to the internet?

    Naturally, it depends on the information. And how other people will use it. We know that credit card numbers can be used by bad people for nefarious purposes. Book purchases can be used by Amazon to market more books to you. And your recently played iTunes list can be used by major movie studios to determine whether you would be a good unpaid crowd marketer.

    Church's argument relies on two assumptions:

    1. Someone with your genetic information can't hurt you.

    2. You will benefit along with the rest of humanity from open genome sharing.

    Of course, assumption 2 is subject to the classic free rider problem -- why share when the collective benefits will come to you anyway? So that brings us back to assumption 1.

    Presently, there are few practical ways to hurt a person using her genome. Of course, that depends on the meaning of "hurt". Some people would be extremely embarrassed to reveal aspects of their ancestry, which is easily exposed with genome information. In fact, the second public genome (Watson's) was almost immediately subjected to ancestry testing. These testing results were publicized in an apparent attempt to discredit Watson's public statements on race.

    In the United States, it sadly quite common to investigate the ancestry of political candidates, and to use ancestry to discredit candidates' public statements. Without question, the world would be a better place if total openness would make people value diversity, as Church hopes. But I doubt that unilateral genomic openness will inspire such a sunny outcome.

  • Is your genome worth guarding?

    Wed, 2009-09-16 13:47 -- John Hawks

    Katrina Voss wrote in New Scientist a couple of weeks ago: "Your genome isn't that precious -- give it away". After discussing legislative efforts to provide remedies for genetic data security breaches, she writes:

    Yet much of our concern about the abuse of personal genetic data seems overblown. It betrays a fundamental delusion of self-importance: we assume that someone will find our individual genome interesting enough to hack into it and exploit it. In most cases, this would be a waste of time: our genetic secrets are rarely worth the cost of obtaining them clandestinely.

    The article touches on the Personal Genome Project's aim to release data unconditionally. In that context, complete openness can be cast as a selfless sacrifice:

    The PGP's open approach is pragmatic: society has much to gain from unrestricted access to genome sequences, medical histories and phenotypic data. For example, only by knowing how traits, experience and genes interact can we discover how both environmental factors and DNA affect disease. The prospect of such progress was a major factor in my family's decision to get involved. Whatever our fears about privacy, we have chosen to cast them aside for the greater cause. But no one who chooses to have their DNA tested should expect perfect anonymity - especially since DNA is the ultimate identifier.

    Hmmm....the ultimate identifier.

    I don't have anything against people choosing to make their data totally open -- I could imagine choosing to do so myself. I do think we should consider the rights of siblings, children, and parents, who after all share half each others' genomes.

    But I read another article that I think makes an interesting juxtaposition: "How much are you worth on the black market?"

    Ever wondered how much your online identity is worth to a cybercriminal? A new tool from Symantec Corp. will perform the calculation for you.

    The Norton Online Risk Calculator, unveiled within a microsite to coincide with the launch of Norton 2010, calculates your net worth on the black market by asking a few questions about your personal Internet use.

    It's a catchy intro for a story about data security -- later the miserable facts:

    Mistakes Internet users continue to make include forgetting to renew their security software subscriptions, not keeping operating system patches up to date and failing to use the latest version of their Internet browser, Merritt pointed out.

    Sure, a genome today is worth less than a credit card number on the black market. But suppose you knew somebody's DNA fingerprint, mtDNA sequence or other data used routinely in forensics. It would be trivial to synthesize fragments with the right lengths and primer sequences, use PCR to make a bunch of copies of them, and scatter them at a real crime scene.

    Well, that's the paranoid scenario, anyway!

    "Every four and a half minutes, a crime is committed on the streets of Los Angeles. Every three minutes, a crime is committed on the streets of Washington, D.C. In New York, a crime is committed every two minutes ... every three seconds, a crime is committed on the net," she said.

    For genetics, the question hinges on whether there will ever be a practical use for the data. I mean, when we talk about "identity theft", we think there's something worse going on than thieves walking into your house and taking down the genealogy chart.

    Blackmail is a use, but not very practical on a large scale. Now, if somebody could corrupt your data, say change a nucleotide or two, then they could spoof drug interaction risks and thereby damage your medical treatment courses. Still, that's not going to drive a huge underground of omecrackers.

    Of more relevance: What could somebody do if they knew the average genetic makeup of an organization, say by cracking a representative sample?

  • Personal Genome Project: waiting list now 13000 long

    Tue, 2009-05-19 08:48 -- John Hawks

    According to Computerworld magazine, 13,000 people have volunteered for the Personal Genome Project since it put out a request last month. Apparently, this has allowed the organizers to perform some triage:

    The project targets families that have had diseases or abnormalities since their data will be of more use in finding genetic links. According to Church, older volunteers get priority because they've had more life history and more medical incidents.

    You might ask, why Computerworld? Well, there is this:

    Eventually, Church said he envisions millions of volunteers participating in the Personal Genome Project, requiring a highly scalable infrastructure. For just the current database with data on 10 people, the project is using 100 servers and a three-node Isilon IQ 12000x cluster.

    The success of the project is highly dependent on how well the crowd-sourcing model works and which companies step forward to offer up technology for research. Church said Google has also offered "significant gifts," as has Amazon, which offered to host the data on its cloud storage offering.

    I'm not so interested in the medical history part, and much more interested in standard survey-type anthropometrics. I'm beginning to be apprehensive about the kind of computing power one will need just to work with the data. I'm glad I don't have to worry about hosting them.

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