forensics

CSI and sequencing – what is the reality?

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Image by Beige Alert via Flickr

Recently I daily enjoyed watching CSI series on our local TV station. I am not into forensic science but I work in a lab for molecular biology and I know a thing or two about DNA sequencing. I would like to show you my perspective of the sequencing process that is simplified by the CSI series.

In school we learn about genetic material. In brief: chromosomes are composed of genes, genes are constituted of DNA and DNA is arranged in a long sequence of four different nucleotides: adenosine (A), thymine (T), guanine (G) and cytosine (C). The sequence of millions of this four nucleotide letters represents our genome. And here the real work begins. Read further if you are interested in how to obtain a sequence of particular gene, for example to determine the relationship between two persons.

Personal genomics – could ”Gattaca” come true?

Cover of Gattaca

Cover of Gattaca

A few weeks ago I watched an interesting movie with Uma Thurman and Ethan Hawk, Gattaca (1997), which raised my attention. It’s about genetically inferior man with a strong wish to fly to planet Saturn. Because of his ”bad” genes and short life expectancy he can not fulfill his wish. A genetically superior man, but paraplegic, helps him to realize his wish. He lends him his generic ID. How do they manage not to get caught?

Genome is something you are born with. It’s unique (except with identical twins), it’s your ID, you can not change it. It’s everywhere on you: hair, eyelashes, saliva,… One hair with a root is enough to determine your genome sequence or sequence of a certain gene (everyone has probably watched one of those many criminal series). Many commercial services are already available to determine DNA sequence. Why do we even need our genome to be determined? First of all, it is being used in a forensics, as we already know. But lately it is getting more and more popular in a predictive and personalized medicine. What are they?

The structure of part of a DNA double helix

Image via Wikipedia

In personalized medicine genome/gene information is being used to determine the most suitable drug to be applied to a patient. In this case it is meant in appropriate amount and appropriate way in order to increase drug efficacy, and with as less side effects as possible. But there are only a few examples so far. It is being expected this kind of drug administration to emerge rapidly.

Another aspect of handling of gene information is in predictive medicine. It is useful for disease risk prediction based on genetic markers. A small change (mutation) in a gene sequence might cause a disease. You should be aware that not every mutation in a gene information also means a risk for a disease. For someone to develope a certain disease there are genetic and environmental factors involved. And both are not yet fully understood. The goal of predicting the future disease is that the health care proffesionals and patients themselves are active in lifestyle modification and increased physician surveillance.

The benefit of personal genomics has already been proven in a breast cancer and some other diseases too. But overall, the usefullnes of genome information in today’s medicine is currently limited.

After I saw this movie I asked myself; what about the ethics of  sharing personal genome information? What about discrimination? From an insurer or an employer. Fortunately, in some countries there are laws already that regulate this topic. Let’s hope that future from the movie will not come true. We still want our destiny to be in our hands, don’t we?

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