A Journey into my Genome (2): Volunteering my own DNA


    An explosion of personalized genetic testing has occurred over the last few years. There are now at least 39 direct-to-consumer genetic tests being marketed in the US. Many of these companies have sprung up due to the trend in the medical community prescribing drugs or diagnosing diseases based on personalized genetic information. Some are also taking advantage of the fad idea that your DNA can tell you how to make better lifestyle-style choices, such as eating certain foods or taking nutritional supplements.

    Last year I sent a sample of my saliva to 23andMe in an attempt to test out my genetic propensity for developing Irritable Bowl Disease (IBD). What I got was a mixed bag of raw data, some of which suggest a higher risk and some a lower risk of developing IBD. The inherent danger is that if I were a layman who did not understand genetics and molecular biology I could easily have over-interpreted my probability of getting any one disease and jumped to the conclusion that I was sick. My conclusion was that more research needs to be done, both on my part as a consumer and on the part of the scientific community in understanding what they are in fact dealing with.

    This year I decided to submit my genetic data to a scientific trial called DNA.LAND. DNA.LAND is a genome sequencing project that collects data from other genealogy and genomics laboratories to make a larger pool of data for a more thorough understanding of human genetics. The founders of this crowdsourcing study, Yaniv Ehlich and Joseph Pickrell, are hoping to attract as many people as possible to share genetic data so that they can gain better insight into how genetics affect our health, as well its relationships with genealogy and other human traits.

    If you had your genome already sequenced by companies such as 23andMe you can send the raw data directly to DNA.LAND.
    Here is how I did it:
    1. I registered myself at dna.land.
    2. I read through and ticked the consent page.
    3. I logged into my 23andMe profile, clicked on the “Browse Raw Data” section
    4. I downloaded a zipped text file.
    5. I then uploaded the text file to DNA.LAND that followed the registration page.

    Submitting your genetic information is purely voluntary and based on personal motivation. You will have to read and sign a consent document which specifically warns that they cannot guarantee you from a breach of data. The risk of genetic data being stolen is low but not impossible. Interestingly the study leaders, Erich and Pickerell have published their own genome in the public domain to assure everyone about the relative safety of their service.

    At the heart of it DNA.LAND hopes to entice people into submitting their genetic data by rewarding volunteers with badges that can be shared on social media and tidbits of information. You can answer a questionnaire and loosely based on your genetic data the algorithm can assign your most likely eye color, coffee consumption habit, educational attainment, near sightedness and ancestry. To me this all seems gimmicky. The inferred traits are based on very low confidence levels and there are even bugs in the questionnaire. The emphasis on family ancestry is totally lost on me. I know I am of direct Chinese descent from my Chinese parents and I am pretty sure no one else in my family has ever submitted genetic information to these testing facilities. Perhaps people who desperately want to know their origins would find this more beneficial. However, I have to commend the creators for at least attempting to increase subject recruitment. As of writing this, the website currently boasts that over 33,000 volunteers have submitted their precious DNA data. Understanding human genomic information will ultimately require such data from millions of people and this study is just a start.

    Some of my predicted character traits based on a very brief readthrough of my sequence data from DNA.Land:

    The value of doing personalized genetic testing is increasingly being questioned. Just last week a study came out concluding that testing for inherited thrombophilia does not help to predict whether patients will get lethal blood clots. Furthermore, the expense that taxpayers are footing in medicare supplements for this test alone can mount to over $500 million. There is also a section of this market directed at high performance athletes and personal fitness that seems suspicious. Companies such as DNAFit, Genomic Express, Kinetic Diagnostics claim to offer advice for an ideal regimen of stretching techniques, sprinting styles and dietary requirements based on an athlete’s personal genetics. Such companies often cite scientifically dubious studies that support their claims, based on a limited number of people and a lack of replicable trials. Consequently a publication from last year in the British Journal of Sports Medicine condemned the use of direct-to-consumer DNA testing on young talented children to help pre-determine which sports they should train for. A lot of these DNA testing companies are based more on commercial interests than solid science.

    Condemning Direct-to-consumer DNA testing for sports:


    Ultimately what we need are a set of standardized, well established criteria for testing companies to use when sampling our DNA. In April this year, the FDA set up a public workshop on next generation sequencing to mull over the issue of a lack of guaranteed quality at testing facilities. Multiple panels of genetics experts were assembled to discuss how to come up with a guidance for a standardized approach to sequencing DNA. Some fundamental concerns include whether to use Short Nucleotide Polymorphisms or InDels to correlate your genetic variations with a disease prevalence in the population. What method would be more accurate? How could a genetic correlation for one disease versus another disease be verified if there are not enough recorded incidences? Such basic questions need to be answered before we can trust sequencing technologies.

    Until we reach a point where we can understand enough about analyzing our genetic material and rely on verified benchmarks, we may as well be reading horoscopes. Come to think of it, maybe I would have better luck if I asked a witch doctor about whether I will develop IBD.


    DNA.Land: https://dna.land/

    23andMe: https://www.23andme.com/

    British Journal of Sports Medicine: http://bjsm.bmj.com/content/49/23/1486.abstract

    STAT News:




    Thrombophilia Study:


    FDA Public Meeting on Next Gen Sequencing: