Skip to main content
Posted by on in Uncategorized
Get in Line at the DNA Bank

In the same year that Vernon Ingram first showed us that changes to a single amino acid in a protein can cause disease or disorder in humans, Johan den Dunnen was born. Growing up in a time when scientific advances in the realm of human genetics were on rapid fire (do the names Meselson, StahlLejeune, Guthrie and Nirenberg ring a bell?), he was inspired to study biology. Johan went on to complete his PhD in the Netherlands examining the evolution of eye-lens crystallin genes, before his research took him toward the area of genetic disease - specifically Duchenne muscular dystrophy.

As well as being an academic (currently a Professor of Medical Genome Technology at Leiden University Medical Centre), Johan, is part of another group within the community. The group boasts members such as Ozzy Osbourne, Elvis Presley, Larry King, and Glenn Close.

What they have in common (unfortunately we're not announcing a supergroup to rival the Traveling Wilburys) is that they have all had their genome sequenced.

Since the completion of the Human Genome Project in 2003, a developing commercial market has allowed an increasing number of individuals to have their genome sequenced. While for James Watson - joint discoverer of DNA - it came at a cost of around $1 million dollars, but by the time Steve Jobs sought information about his own genome to aid his cancer treatment, the cost had fallen to around $100,000.

Today genetics is not just for the wealthy. Today individuals can have access to their own genomic blueprint for around $1,000 USD.

This begs the question of what we stand to gain by having our genomes sequenced, and for those of us without a PhD in genetics, what would we even do with this information?

While most people know that our genes determine our risk for certain conditions such as breast cancer, Alzheimer’s or thalassaemia, we can also use our genetic data to make more informed choices on the types and dosages of drugs we take. Our genes are thought to contribute to all manner of things including our likelihood of being obese, becoming a drug addict, or being a risk taker. But before you become resigned to an inescapable a life of crime, den Dunnen provides a warning.

"Although you might not know it, you are who your DNA determines you to be. But it is important to understand what it does, and what it does not determine for your life"

While our tests will inevitably return a number of variants, the correct interpretation of these variants is critical. Den Dunnen insists the most important point is that people are given the tools required to make sense of the information that they are provided.

In addition to your inherited genome, factors such as what you eat, your lifestyle behaviours, exposure to environmental factors and various internal biological factors (inflammation, microbiome, etc.) are additional pieces of your genetic puzzle. These difficult to quantify epigenetic parameters can often be the "trigger" or "blockers" to the presentation of genetics disease. But while scientists are still uncovering exactly what each part of your genome does, and how to interpret variants in the code, what can you do with the genetic information you already have?

Akin to the concept of a conventional "money" bank, the DNA bank - a concept conceived by den Dunnen- exists to hold safe your DNA data. You are free to make deposits, transfers or withdrawals - entering additional pieces of data, making data available to external parties or remove it completely. The bank's job also involves keeping abreast of scientific developments to notify you if one of your unclassified variants is found to be pathogenic (likely to cause disease) or of little clinical significance - that is if you choose to "subscribe" to updates in your genome.

Den Dunnen also thinks that the DNA bank system may also allow greater classification of variants to occur - a task which requires many recorded observations. He reasons that individuals with variants are likely to share their data (anonymously) to aid in classification, which could be a way of circumventing current data sharing roadblocks which keep patient data siloed in clinical laboratories.

When asked about the future of genetic testing, den Dunnen predicts our grandchildren will look back incredulous that we lived so recklessly, without the knowledge of our own genetic makeup, daring to have children without calculating the risks with our chosen partners.

While the thought of living in a world that is calculated and considered may seem like an actualisation of Gattaca, den Dunnen doesn’t perceive a sci-fi themed future.

"The future will be that everyone knows about their genetic makeup and makes no point of it."

Written by Catherine Carnovale

Catherine works as a Communications and Administration Officer for the Human Variome Project International Coordinating Office.

"Bank" by "GotCredit " is licensed under CC BY-SA 2.0. No changes made.


 

 

Comments

  • No comments made yet. Be the first to submit a comment

Leave your comment

Don't forget to log in! If you're a member of the Human Variome Project Consortium, you might want to log in before posting a comment. Not a member? Why not sign up?
Guest
Guest Wednesday, 28 June 2017