ChEMBL

There are many companies that now perform various types of direct to consumer (DTC) genome/exome sequencing and genotyping. Given my professional interests this is something that regularly crops up in discussions at work, and I have had an interest in getting myself genotyped. On campus in Hinxton we had a project where staff could get genotyped for a small number of known trait linkages – but this project deliberately avoided some of the more ‘interesting’ traits and was also limited in the total number of traits profiled – I didn’t take part. So at Christmas I thought a cool gift would be to get my wife and I genotyped (she provided consent of course, so the present wasn’t exactly a surprise, in fact I don’t think she really thought of it as a ‘present’). The process was easy, and was overall very cheap, if a little bit laboured to physically ship the saliva sample to the States from the UK – Do not try and drop the samples off at a local DHL franchise desk – they will freak out at the ‘biohazard’ labels, and then be unable to process the pre-paid shipping label; go to one of the big DHL warehouses instead.

Anyway, my impression of the results of the genotyping is very positive – it identified known family health risks, and confirmed that I had known risk alleles associated with these too; generally though it delivered excellent news/lower risks on some serious diseases – and also led to post-genotyping diagnosis of a sub-clinical chronic disease for which I have a very significantly raised genetic risk (it turns out), and that I’ve actually had the pathology of for thirty-odd years, but never at the level where it impacted my life, or even warranted a visit to a doctor. Of course, these genetic components are simply one side of the coin w.r.t. personal health.  Environment, life-style, diet, and so forth are important too, and finally, the genotyping results are simply indications of risks, derived from current data and known SNP associations – but for me the insights have been accurate and useful. For others though, they may get news of higher health risks, surprises over their parentage, so caveat emptor.

The process got my elder kids (currently 25, 23, 21, 18 year olds), who all followed a ‘liberal arts’ undergraduate path interested in genetics and their health too, which is a good thing, and they are now also keen to get genotyped (if I pay, so nothing changes there!). Supporting people in interpreting the results though is complex – ‘so I will get this disease then?’ - ‘not necessarily’ – ‘well what use is it all then’…. Education, at many levels/ages is obviously the answer and for a UK audience, the time is right for a ‘Brian Cox’-like figure to make a decent popular TV series on personalised health, essential statistics, genetics and ancestry – but for God’s sake, please, please, do not get Brian Cox to do this. If only there was a respected, camera friendly, trendy, good-looking, young geneticist available – answers on a postcard to ‘BBC Television Centre, 201 Wood Lane, London W12 7RJ’…. So in summary - ‘We need to make understanding of genetics encoded in our cultural and educational DNA’ (Sorry Ewan – it was too tempting to write this sentence).

Specifically, I was genotyped by 23andMe, and their website is pretty useful for visual overviews of the complex data underlying the big data of genetics – they also encourage people to take part in a series of lifestyle, preference and health surveys, and this post is primarily in connection with the results of one of these, for me. I must also note, that their website is superbly engineered too, great session and security management, great layouts, and it does a great job of presenting complex scientific data to a non-specialist but interested audience. The only areas to avoid are the forums, where like anywhere on Teh Internets, trolling and bigotry are potentially only a few keystrokes away.

Anyway, there is a multiple-choice online test on ‘Systemizing Quotient’ that I recently took online. This is one of a number of surveys 23andMe have, and for these the website gathers a set of scores from genotyped people, and then later attempt to find genetic loci that may associate with this trait (in this case a trend to ‘organise’ stuff). The type of questions in the survey are things like ‘Did you collect stamps as a child?’ (to which I immediately thought ‘as a child? - why is age important? don’t most adults collect stamps as well?’). I scored highly in this test – since I love organising, collating and sorting things, I really do. The image at the top of the post is a screenshot of my score, click for larger). I love the way they described the Systematizing Quotient – ‘assess drive to construct systems or to predict the behavior of a system’. To me this is the distilled essence of my job and you may well see this phrase in future recruitment job descriptions that I write ;)

So I seem to have ended up in a career that aligns to some existing personality traits – this makes me feel a little bit good, and is far better than the other way round. Of course, now, it is tantalising to know if there is an underlying single genetic polymorphism, or set of variants, that are actually associated with the Systematizing Quotient trait. So come on 23andMe – get on and do the research!