life (with) science

“Ten fingers, ten toes. That’s all that used to matter. Not now. Now, only seconds old, the exact time and cause of my death was already known.”
From Andrew Niccol’s Gattaca

In the last part of this series of posts I would like to focus on another main aspect of the 1997 sci-fi movie Gattaca by Andrew Niccol. In one of the first scenes of the movie, in which Vincent/Jerome tells his story to the audience (go to the end of my first post for the clip of this scene), we are shown that a sample of Vincent’s blood is taken right after his birth and an analysis on his genome is performed. The DNA is instantly sequenced and any potential disease, disorder, mental illness and death probability is meticulously listed with its precise percentage, even providing a prediction of life expectancy. The technology for sequencing an entire genome that quickly is not yet available. However, thanks to the technological advancements of the so-called Next Generation Sequencing (NGS) techniques, sequencing an entire genome is getting quicker and cheaper.

The use and the importance of the genome code as it is depicted in the movie raises some crucial questions. What is the genome code and to what extent does it influence our lives? Is the DNA just our blueprint, a set of instructions for a complex and finely regulated machine, or does it represent everything we are?

Quite a series of questions, I know. The interest in the genome code has grown faster since it was decoded at the beginning of the 2000s in a race well known as the Human Genome Project. Two teams competed in the attempt of deciphering it using two completely different approaches. The International Human Genome Sequencing Consortium (IHGSC), led by Francis Collins from NIH, published the first draft of the human genome in the journal Nature in February 2001. This draft included the decoded sequence of the 90 percent of an entire genome (made of three billion base pairs).

After the publication, Francis Collins described the human genome as:

“A history book – a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.”

In 2007, a team led by Jonathan Rothberg published James Watson’s entire genome, unveiling the six-billion-nucleotide genome of a single individual for the first time. In the same year, Craig Venter’s genome was also published and he explained to what extent knowing his exact genome changed his life.

By sequencing his genome, Craig Venter, as explained in Nature, found out that some of his genes contain several variants that are associated with (and therefore are predictive for) Alzheimer’s disease. In particular, the APOE gene encoding for the Apolipoprotein E and SORL1 gene that encodes for a neuronal receptor that binds the Apolipoprotein E gene. Venter said that he’s been meticulously taking statins, cholesterol-lowering drugs, ever since. Interestingly, Venter’s DNA includes four repeat sequences (usually short sequences repeated multiple times in the same region of the DNA) located just before the MAOA gene, encoding for the enzyme Monoamine oxidase A (MAO-A). Having only three of the repeats is associated with an increased risk of antisocial behaviour.

What do these data mean? Will Craig Venter certainly develop Alzheimer’s disease? In a book published the same year called A life decoded, Venter explains how his genome sequence may have affected his life. “I take it very seriously, but most diseases are going to be some huge compilation of human factors and environmental factors” he said. So he highlights that single gene mutations are unlikely to be to only reason shaping our destiny.

We are the result of our interaction with the environment, with everything we are exposed to (food, sunlight, pollution). Thinking of a human being just as the code from which he/she originates would be a terrible mistake.

“The message,” continues Craig Venter talking about the importance of sequencing his entire genome, “is that everything in our genomes will be a statistical uncertainty”.

Is it this gap of uncertainty that makes us what we are? How will our lives change when the technologies for sequencing the genome code as fast and accurately as we see in the movie will be available?

Concluding this series of posts, I think that some movies (and products of other art forms) can help us to understand the world we are living in and to reflect on our possible future without forgetting where we come from or, more importantly, what we are.