The genome of myself: further reading

The aim of this activity is to understand what we can learn from the information in an individual genome, in this case, mine (Jaume Bertranpetit).

This is the primary purpose of personal genomics: to obtain a biological sample from an individual, extract the DNA, analyse it (in this case, a set of several hundred thousand SNPs), and interpret the variants in relation to the individual. Specifically, it looks for the presence of variants for Mendelian diseases, risk for complex traits, individual traits (such as hair type or colour), drug response and ancestry. At the end of the chapter, we will answer a very common question: what can I learn about myself from the information in my genome?

Today, biological samples are usually obtained from a very simple sample: saliva. Saliva contains cells that, when lysed, can provide enough DNA for most genetic studies. The depth of the genome study can vary: from studying a set of SNPs that cover a genome well to sequencing the whole genome. In general, an array of SNPs is used, to make it possible to interrogate the most important SNPs for specific traits and thus facilitate the analysis. Reading a whole genome sequence and a string of letters is very difficult: we need to know where the variants for the known traits are in the DNA sequence.

In this activity, I will explain the results of the analysis of my own genome and the information it has given me. Before analysing my genome, I knew I was colour-blind (a complete misnomer, as we do see colours, just in a different way from other people), and I will discuss this point.

The SNP study that the company 23andMe did with the initially obtained results is the basis for the description of: my particular risk for complex diseases (I have a variant that increases susceptibility to deep vein thrombosis); the presence, in heterozygosis, of variants for genetic diseases (I have a rather frequent variant for haemochromatosis); certain ‘traits’ that are usually considered the way to reconstruct appearance from a genome; and my response to specific drugs. The interest of the results varies substantially amongst individuals. Occasionally, they offer information of health interest, but that is rare. In my case, I have a tendency to clot easily and thus should not stay still for long periods of time (mainly in flights) or after surgery, when I should be administered heparin. Fortunately, most cases are extremely boring: there is nothing of special interest.

The ‘traits’ dimension is an area that is heavily researched with the aim of being able to reconstruct an individual’s appearance based on his or her genome information. Finally, although interesting, the information for drug response is seldom used, as in most cases genome information is not a perfect predictor of how an individual will metabolize specific drugs. In my case, I know that I am a very fast metabolizer of caffeine and my organism probably does not suffer from the many cups of coffee I drink every day…

Knowledge of the information in our own genome is a controversial issue. Even if the information is extremely valuable at the biomedical and population level, the individual and personal interest is very low, and many aspects are not well understood, which raises important ethical questions. In fact, the authorities of several countries have banned or limited the use of genomes for health purposes without medical supervision.

The Wikipedia for Personal genomics offers a good overview. Some outstanding scientists have analysed and published their genome information. See, for example, Jim Watson, Craig Venter in the book “A Life decoded. My genome: My life (Viking, 2007)”. All have videos on YouTube explaining it. There is also plenty of information from the Harvard Personal Genome Project which advocates openness and the sharing of all personal genome information. Companies that provide personal genome services, such 23andMe or GenomicsAdviser, also have very helpful websites.

Genomic Sequencing 101: Pros, Cons, and Implications for You and Your Family, by DocMikeEvans, is very interesting. It focuses on the many cases in which knowing the DNA sequence may be of health interest to an individual. Keep in mind that the video was made by a company that provides personal genome services. It is also available on their website.