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Skip to 0 minutes and 14 seconds To see more in detail all over the genome I decided to take an analysis with the company 23andme. This company works with sending the sample of saliva sample and then they type, and they do the interpretation The interpretation they do has changed through time because there have been some problems with the Food and Drug Administration of the United States and nowadays they have begun again of giving some information for tests of predisposition to diseases. So initially they gave a lot, then they had to stop and now they are giving partial information on that because the Food and Drug Administration thought that this should be done under a doctor surveillance.

Skip to 1 minute and 9 seconds Then I may ask what my DNA says about say about me and we’re going to see several traits that my DNA is giving information. The first is the case of increase risk for complex diseases and here you have the chart of the different diseases for which I have an increase. I have a strong increase for venous clotting in the sense that I have a strong tendency of clotting so in fact I had some years ago a deep vein thrombosis in my leg, but I didn’t know my genome by then. Now I take much more precautions on that. For the other ones is much less important.

Skip to 1 minute and 57 seconds But for this venous thrombosis or the tendency to have this clotting in my blood, you can see that I have a strong predisposition to that and it has been interesting to know this information because in my everyday life what I have to do is not to stay still too many hours and that’s it But if you have the problem then it may be really dangerous. So, this is a point interesting in my genome in which I have this more than 50% tendency of having this deep vein thrombosis as I really had once in my life during a very long night flight. For the remaining there are also tendencies, but these tendencies are not as interesting as the first one.

Skip to 2 minutes and 52 seconds For others I have a decreased tendency, a decreased risk of these diseases which is not really important because you have to look at the numbers. So instead of having a given risk the mean of the population, I have maybe 70%. It doesn’t make a big difference that and for many others I have the normal risk. The second part is to see for which alleles in the genome I’m carrier of what are genetic diseases if they were in homozygous. I have an interesting one which is hemochromatosis in which there is a tendency of storing iron in the blood.

Skip to 3 minutes and 37 seconds This is really not a disease and in fact it may be interesting mainly for women because this helps of having the right amount of iron even with the waste of blood for the period. For many others I do not have anything interesting but in this case, the hemochromatosis is interesting in this sense. Is more interesting to understand why hemochromatosis is quite frequent than for the disease itself. As traits there are several traits that you may see in the genome, but these are not really very important.

Skip to 4 minutes and 21 seconds Among these traits you can see de colour of your eyes, the colour of your hair… You can see for example whether you are able or not of drinking milk because you have the lactase and several other but always they are very, very specific. Or tasting the PTC, as is called, meaning that people that really feel the very sour flavour of some foods.

The genome of a single person. Part 2

Why study the genome of a single person? What challenges does this kind of analysis pose?

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Why Biology Matters: The Genome and You

Pompeu Fabra University Barcelona