My Genome Online – A Challenge To You

[Editor’s Note: This guest post is contributed by Blaine Bettinger. Blaine is the author of The Genetic Genealogist, a blog that examines the intersection of genetics and ancestry, and a patent attorney at Bond, Schoeneck & King in Syracuse, NY.]

As you may have heard, I recently made my 23andMe and Family Tree DNA autosomal testing results available for download online at “mygenotype,” and dedicated the information to the public domain (if dedicating DNA sequence to the public domain is even possible – I’m currently doing some research in this area and expect to write more in the future). [Editor's Note: see additional comments on personal genomics data in the public domain at the end of this post.]

At “mygenotype” you can download the following:

My Family Tree DNA Results:

  1. Affymetrix Autosomal DNA Results (2010)
  2. Affymetrix X-Chromosome DNA Results (2010)
  3. Illumina Autosomal DNA Results (2011)
  4. Illumina X-Chromosome DNA Results (2011)

My 23andMe Results:

  1. V2 Results (2008)
  2. V3 Results (2010)
  3. Y-DNA Results (2010)
  4. mtDNA Results (2010)

You can also find my SNPedia Promethease reports:

In addition to my genome, Razib Khan of Gene Expression has a spreadsheet of approximately 48 other genomes that are available for download online.

A Challenge To YOU

Now that the information is out there, available to anyone who might be interested, it remains to be seen who might be interested in the information.

Indeed, as evidenced by Razib’s spreadsheet, while dedicating a genome to the public domain has only been done by a small handful of people worldwide, it isn’t as novel as it was just a few months ago.

So, I’m challenging everyone who reads this to download my data and analyze it to find the most interesting or surprising results. For example, you could use my most recent 23andMe V3 data.

I’ve already done a fair amount of analysis myself, including the Promethease reports above (and see here), and a recent blog post about my vastly increased Type 2 Diabetes risk.  However, perhaps there’s a recent but relatively study that applies, or perhaps there’s a story you can weave with a handful of SNPs. Or, even better, what can you tell me about my ancestry other than mtDNA and Y-DNA haplogroups? Don’t worry about the strength of the study, reproducibility, etc. – I’m aware of the uncertainties associated with this type of research, and my goal here is to make people aware of possibilities.

Please post your findings in the comments below, and in two weeks I’ll pick the most surprising or interesting findings and make them the focus of a new blog post.

Can you surprise me with my own genome?

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[Editor’s Note: the data from Genomes Unzipped members, as well as data from other public genomics projects, including the Personal Genome Project, has been made available using the Creative Commons copyright and database rights waiver, CC0. (See previous GNZ coverage.) However, as this FAQ points out, CC0 is not necessarily a complete or universal waiver of all rights in the subject matter, including personal genomic data. As the publication of personal genomic data becomes more commonplace, and particularly as lawmakers seek to alter individuals’ rights in genomic data on the fly, it is probably only a matter of time before these tools are tested in practice.]

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7 Responses to “My Genome Online – A Challenge To You”


  • Hi Blaine,

    I applaud your willingness to exercise ownership over your genome by making your data public. I’m hoping that I can challenge you to advocate for the right to keep it private as well.

    Here’s a talk I gave at World DNA Day and Genome Day in China a little over two weeks ago. It explains a process where we’ll be able to comply with any FDA regulations that may come and still maintain individual ownership/privacy over the data.

    http://slidesha.re/mwHSzy “Solution for Managing the Worlds Personal Genetic Data”

    I’m hoping there will be some sort of mechanism where genetic tests be given a rating for quality of science, medical utility and viewing risk. We can then apply these rules to the base pair level such that the proper level of counseling could be triggered the moment individuals go to access sensitive information.

    Is see “written consent” evolving into “real time consent” with individuals managing access to their genome (and having the ability to revoke access). Individuals should be able to choose to only share their genetic data with those entities that agree to be subject to third party audits to prove authorized use.

    The right to privacy of one’s own genetic data is a fundamental digital human right. With the proper use of technology – both privacy and personalized medicine can thrive. Maybe it’s time we quit giving everything away to try to save it?

    Alice Rathjen
    http://www.dnaguide.com

  • Alice,

    I agree that just as one has the right to share their genome, one has the right to keep their genome private, at least to the degree they haven’t already knowingly shared it (I’ve likely given up my rights to the DNA I passed on to my children, for example; it would be unethical to prevent them from analyzing or sharing their own DNA).

    Of course, the right to privacy is a vital consideration that one must take into account before sending away a sample of their DNA (ignoring for the moment illicit sequencing, which is a completely different topic). Just as with our social security numbers and credit card accounts, once there are sizable databases of private genomes (and, probably, some profitable use for those genomes) there will be attempts to hack those databases. I’m not saying that we should advocate public domain genomes because of these dangers, rather that genomic privacy will be technologically challenging and all test-takers should be informed of these potential dangers. In fact, that is one of the goals of my experiment.

    However, I agree with you wholeheartedly that people should be able to participate in studies/research without surrendering their genomic privacy, and I further believe that failure to share research results with participants is unethical. Together these two facets make research challenging but far from impossible.

    By the way, I enjoyed your presentation (actually saw it recently via a tweet), thank you for sharing it.

    Blaine

  • Thank you for sharing! Best, Steve

  • Very good, Blaine.
    I am not going to surprise you, just to clarify the list of your DNA relatives using the HIR Search tool http://hirs.snpology.com
    Currently the following your results are used in the HIR Search:
    - 23andme V2
    - FTDNA Affymetrix Autosomal

    I will add these ones:
    - 23andme V3
    - FTDNA Illumina Autosomal

    All four data sets will be merged into the big one. Conflicting alleles will be detected and removed from the set and the data will be compared to 1200 sets of other participants.

    So – stay tuned.

  • Your updated results were uploaded to http://hirs.snpology.com
    You have 1009 HIRs (aka IBD segments) with 667 participants.

  • Hi Blaine/Dan,
    In lieu of a submission for an isolated study, I would like to submit this website as a concept for a more comprehensive/holistic approach to genome. http://www.lifegenomeproject.com
    Thanks,
    Steve

  • I came back to see if there was anything revelatory. And to see who has the kind of time to evaluate your genome.

    I got my data in January and I’m barely through chromosome 1. I should have started with a shorter one.

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