Or: Craig Venter and I1
I spat into a tube this morning:
This is to participate in a study called “Inside your genome” that is run by the good folks at the Wellcome Trust Sanger Institute. The study offers 1000 people working here on the Genome Campus to be voluntarily genotyped at a set of ~100-150 known variants, showing results for around 30 traits. Among some other things, this study is set up to explore people’s attitudes, views, opinions and awareness of personal genomics (using genetic technology) to learn about how their own genome sequence relates to their traits.
I like this simple description of what’s going on:
Every cell in your body has a complete set of instructions, known as the genetic code, that tell the body how to make your cells and their components, and to direct how these interact. This set of instructions is encoded in your genome. You could think of the genome as a recipe book that carries all of the instructions necessary to make a human being. Sometimes, variation in the genome between individuals can result in the presence of certain traits, some of which may be related to your health.
The traits included in this study – as voted for by study participants – are entirely “benign”:
- Ancestry (Worldwide, Neanderthal and population markers)
- Eye colour
- Smell perception
- Taste perception
- Blood glucose
- Muscle performance
- Blood pressure
- Body mass index (BMI)
- Blood type
- Nicotine addiction susceptibility
- Caffeine consumption
- Fat distribution
- Lactose intolerance
- Norovirus resistance
- Male pattern baldness
Most of this doesn’t sound very exciting. After all, I already know the colour of my eyes (green), my hair colour (dark blonde… well, increasingly grey), I know (from experience!) in which areas my body fat is most likely to be stored, and I am pretty sure I am not at risk of developing male-pattern baldness. I am, however, a tiny bit excited about the prospect of finding out exactly how “Neanderthal” I am – I do have all four of my wisdom teeth and they are fully functional… I’ve always wondered whether that may be any indication?
Even judging only by the number of times this was mentioned in the information paperwork, among the biggest concerns of the researchers seems to be:
- Study participants asking researchers about specifics concerning their genome/results (which will NOT be possible)
- Feedback of any “incidental” findings (i.e. things not included on the list above) to study participants (which will NOT take place)
The reasons for this (I am guessing) might be:
- Practical issues involved in storing and (re-)analysing the data
- Keeping data identifiable (i.e. possible to link with the individual study participant, which in this study is explicitly NOT the case)
- and, probably the reason for the previous point, ethics involved in feeding back findings to the participants (probably along the lines of the issues described recently in an article in Nature).
But to be honest, and as much as I understand that this is not feasible, I was/am almost a bit disappointed that the study will not look at factors that may indicate detrimental health effects. For example, I would have liked to know exactly how likely I will be to get arthritis, as one of my close family members has it. Then again: arthritis is not life-threatening, and it’s probably sufficient if I just mentally prepare myself for the eventuality (plus try and keep my joints healthy by eating the “right” foods and exercising). It might be quite different if I was confronted with a finding that indicates I might die rather a bit sooner than I had hoped.
One of the aims of the study is to “give [participants] the opportunity to personally think through the technical and ethical considerations that surround personal genomics”. But I wonder whether looking at “harmless” traits contributes in any way towards finding out the real attitudes, since the big issues seem to me to only arise once the findings are not “harmless”. One colleague joked, predictably, that if traits relating to a detrimental effect on health had been included in the study, “the next thing would be that you’d find yourself being struck off the health insurance” – and I bet this or a similar thought is the first that pops into the head of anyone who thinks about genotyping, especially in the context of personalised medicine.. and despite its huge potential to help patients by targeting treatments. If not, let me know in the comments.
Just this morning it seemed like the participation in the study would be modest, judging by the number of sampling kits that were left over. However, with just 1.5 hours to spare before the deadline, there was an update that the kits have all gone now. A mad, last-minute rush – have people just made up their minds (or were they just too lazy to do it earlier, like me)?
How do you feel about genotyping – if you really think about it?
1. The study is completely voluntary, confidential, etc., and only looks at a veryvery limited set of traits, so it really is not quite like having your entire genome sequenced and published openly like Craig Venter’s… but since the consistency of his earwax was mentioned in the introduction to the keynote talk I heard him give a bit over a week ago at ESOF 2012 in Dublin, the subtitle seemed somehow appropriate.