What is a genome and why should I care?

At lunchtime on the 28th of February of 1953, Francis Crick & James Watson interrupted patrons at The Eagle pub in Cambridge to proclaim they had “discovered the secret of life” after discovering the structure of DNA. Crick and Watson shared the Nobel Prize in Medicine with Maurice Wilkins for their discovery of the double helix, the overlooked contribution of Rosalind Franklin was recognized posthumously.

Their work was an important step toward one of the most profound discoveries in human history, the mapping of the human genome which was completed in 2003. The impact of the discovery was widely understood within scientific disciplines, but the general population is yet to realise the potential it has to change all life on earth.

 

What is a genome?

A genome is the collective name given to a set of genes that make up an organism. It essentially acts as the instruction manual for how an organism is created, genes control a vast range of traits from physicality and functionality to personality. Every single organism on earth has a unique genome, I have a genome, you have a genome, a chimpanzee has a genome, a worm has a genome, a blade of grass has a genome. The genomes of two humans are similar, the differences in our genomes is what makes every person unique and vastly different to a worm.

Humans have around 20,000 different genes, every person has two copies of each gene and they inherit one copy from both of their parents. Genes dictate simple physical traits things like hair or eye colour, right the way through to complex body functions such as controlling how susceptible people are to certain diseases and how they would react to certain treatments. Genes also control some traits that appear more behavioural, like how susceptible someone is to addiction. The collection of genes make up the genome and results in the unique blueprint for how your body is made, from innocuous traits through to fatal flaws.

By understanding the genome, humankind has unimaginable potential to change all life on earth.

 

ELI5:  A genome is like a recipe for a cake. The genes are the individual ingredients that when mixed together create an organism cake.

 

The Wheat Genome

A simple example is the wheat genome whose sequence was complete by researchers in October 2017. Wheat is a staple crop for over 2 billion people worldwide, by understanding the genome we can help farmers generate a more stable, reliable yield year on year and breed strains that are resistant to climate change, diseases and other stresses. By understanding the wheat genome we could take significant steps toward eradicating world hunger.

 

Why should I care?

We have lifted the lid on the building blocks of life and as with every monumental discovery there is the potential for good and the potential for harm.

The first genome sequence cost around $2.7billion and a huge amount of scientific effort to achieve. The cost in 15 years has reduced to below $1000 and Illumina announced in 2017 that the ‘race is on’ for the $100 genome. As the cost decreases, the potential applications increase and awareness in the general population is raised it’s reasonable to think that in the not too distant future everyone will have their genome sequenced.

 

 

But under what circumstances will you have your genome sequenced? Will it be voluntary or mandatory? Who will be responsible for the sequencing? Who will pay for it? Who will own the data? What control will you have over access to your genome? What are the implications of having the entire world’s population genomes in a database?

Here are three hypothetical scenarios, all of which are realistic and could potentially happen in the our life times.

 

Scenario A

The UK government mandates the entire population to have their genome sequenced in order to be eligible for free healthcare via the NHS. The service is free, the government owns the data and restricts access to medical practitioners. Everyone is entitled to a summary report of their genome data, much like medical records are handled today.

 

Scenario B

A private company offer genome sequencing and provide a summary report of notable characteristics. The service is free, individuals are entitled to a summary report and can grant access to medical professionals but the data is owned by the private company and can be sold to other private companies.

 

Scenario C

The UK government gives the option for citizens to have their genome sequenced, their data is encrypted and stored on the blockchain. The government subsidises the cost of sequencing but individuals need to pay $100 for the service. Individuals can see a summary report of their genome and control access to their genome to medical professionals or private companies.

 

Now let’s analyse some of the characteristics and possibilities of each scenario:

 

Scenario A Scenario B Scenario C
Cost Free (paid in taxes) Free (sold to companies) $100
Where is the data stored? Government data centres Private data centres Blockchain
Who owns the data The government Private company The individual
Who controls access to the data The government with limited access for the individual Private company with limited access for the individual The individual
Could a private company buy access to the data without the individuals consent. No Yes No

These are only a few possible scenarios and a small investigation into the implications of each. Hypothesising about the future impact of genomic sequencing can result in a dystopian eugenic nightmare or a utopian dream where all illness & disease are cured.

I liken the sequencing of the human genome to the invention of the world wide web. On day 1 there was little interest apart from those directly involved in the field, those who could access, understand or have an application for the new technology. Over the years the potential of the world wide web was realised by more and more people, 30 years on it is ubiquitous in the western world and fundamental to our society.

The future of the human race hinges on the technologies built upon our understanding of genomes. At Genomes.io we see ourselves as playing a small but vital role to ensure that whatever the future holds for genetic sequencing, that individuals are in control of how their genome is used by companies and governments.

 

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