We’ve all seen those commercials advertising personal genome sequencing. Companies like 23andMe and Ancestry.com will sequence sections of your DNA and be able to extrapolate tons of information including, as the name suggests, your ancestry as well as genetic disorders and health risks. But while it’s very cool to find out that you’re 65% Ethiopian and 22% Norwegian, what if your sequencing results discover a BRAC1 mutation (a risk factor in breast cancer) or an increased chance of high blood pressure? Is forewarned, forearmed or can imperfect knowledge of statistics or discrimination by insurers cause more harm than good? And who owns the data, you or the company? How can it be used in the future?
There is a Public Forum on these questions and more on May 16th at McGill organized by the Science Policy Exchange (SPE). It’s a free event, though you should register as seating is limited. The speakers will address questions of the science, potential uses and current laws that surround it. There will also be an opportunity for the audience to ask their questions. I’ll be there and I’ll share my thoughts about what I learn in my next blog, but for now allow me to share a bit about what I know of genome sequencing in general.
Super generally, DNA is made up of 4 base pairs (A, T, G, C) which in groups of 3 (ie TAG, GGC or AAA etc) code for specific amino acids which are strung together to make proteins which do basically everything in a cell and thus in the human body (or in any animal, plant or bacteria). It is an amazing amount of information that is constantly being duplicated and is passed down through the generations.
Side note, because I think it’s cool, there is an interest in using DNA for digital data storage as nicely explained in my friend’s blog article.
But as I way saying, the Human Genome Project completely sequenced the human genome in 2003 after over a decade of work (as an international collaboration) and ~$2.7 billion. They published a mosaic of the human genome from a few anonymous volunteers. The human genome consists of 3.3 billion base-pairs and 22,300 protein coding genes. With huge advances in the technology, the 1000 Genomes Project took about 3 years to complete in 2012 and was able to identify genetic markers of different ethnic groups as well as gene variants. Both projects have applications across the fields of biochemistry, genetics, and medicine and advancements have been huge. Today you can sequence a human genome in as little as 24 hours and for about $1500.
As a cancer researcher, I can see many advantages of genome sequencing in personalized medicine. For example, if you compare the DNA from a tumour to normal tissue you may be able to identify potential mutations you can target to better treat a patient. But there are issues I can see as well. With so much information, how are we interpreting it all? Who can access (or own) this information? We get worried about people knowing our internet search histories, never mind our genetic makeup. Privacy and security are always big concerns.
I’m excited to hear how these experts are going to address these questions and others. If this sounds interesting to you, I encourage to you attend the Public Forum. I’ll let you know what I find out!
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