We may have mapped the human genome in 2003, but a new worldwide study has discovered the links between our genes and the conditions that ail us.



In this time of extra focus on health, allow me one more story from the brave new world of medical research. Every day, twenty American war veterans kill themselves. That is fifteen percent of the total amount of Americans who take their own lives each year; a disproportionally high number. A few weeks ago, the American Department of Veteran Affairs learnt a little more about why that might be the case.

While trauma is involved, surprisingly so is genetics. Research that looked at an astounding 200,000 veterans, concluded that quite a few of them were susceptible to anxiety and depression even before they were sent to Afghanistan or another warzone. In fact, in an astonishing number, there was a problem with a gene called MAD1C1, that is also implicated in bipolar disease and schizophrenia. On top of that, there were five other genetic variants that are linked to anxiety that were more prevalent in this group. Obviously, this is important information. Not only will it now be possible to better predict who should and shouldn’t go to war, but deaths can also be prevented by teaching people how to cope before the shit hits the fan.

With 200,000 participants, this research is the largest ever study into anxiety in the world. But it is not the only mass investigation into illness that is going on at the moment. In fact, bigger is definitely better at almost all laboratories on the planet. For instance, a few months ago researchers looked closer at insomnia than had ever been possible before: 1.3 million people were involved, and 956 genes were found that could hold the key to solving a problem that a third of the general population suffers from. An issue, too, that is implicated in all manner of mental health issues, as well as diabetes and cardiovascular disease.  


Research that looked at 200,000 veterans found that few of them were susceptible to anxiety and depression even before they were sent to war.


This kind of research is part of Genome-Wide Association Studies that are taking place from New York to Melbourne and Cape Town to Oslo. As you may remember, in 2003 the Human Genome Project was completed, and that meant that suddenly researchers could look into genetic contributions to common diseases better than ever before.

Until the human genome was mapped, the only way to look at the role genes played in illnesses was to study families. That was relatively successful if they were suffering from a single gene disorder, but not so much if it was more complicated than that. But after humanity cracked the gene code in 2003, Biobanks started springing up everywhere. At the moment, we’ve got forty-five in NSW alone, and the largest in the southern hemisphere is at the RPA in Camperdown. It is run by NSW Health and stores more than three million human samples for use in research. Usually, that is left-over tissue from an operation, biopsy or blood test, of course, donated with written consent. At Camperdown, researchers can apply for access to those samples, so they can investigate whatever illness they are looking at at a much larger scale than pre-2003. 

These studies, as usual, involve one group of people with an illness and a control group without. But because so many samples are available, it is possible to look at enormous populations. That means you are casting a wide net, but because there is no hypothesis before you start, anything can happen. The focus, of course, is finding the genes that are associated with a particular disease. And once you’ve found those, you can zoom in and look a little closer. This has two consequences: first of all, that you can know more about more illnesses much faster than before. Secondly, it is laying the groundwork for personalised medicine.

In the near future, it will no longer be one size fits all (like one type of chemo for everybody with bowel cancer, for instance). Treatments will be tailored to one individual patient, because when we know more about one person’s particular gene ‘make-up’ it is easier to design something that will be just right for them. Not just when they are already sick, but even in the prevention of that illness. Less guesswork, less adverse reactions to treatments, fewer mistakes. 


In the near future, treatments will be tailored to one individual patient,


Of course, there are limitations. Not everything can be explained by looking at genes, for instance, and every person responds differently to disease, which makes treatment still complicated. Also, completing a complete genome sequencing is still expensive. And the problem with quite a few of the Biobanks is that the owners of the samples are generally white and Western. Apart from that, just knowing which genes are associated with a disease is only the beginning.

The challenge is the road from that knowledge to new drugs, diagnostics and maybe prevention. Nevertheless, so far over three thousand GWA studies have been done, into almost two thousand different diseases. We now know more about what causes heart attacks (from a study started in 2004), have found a protein that is involved in producing macular degeneration and can pinpoint genes that are related to risky behaviour, like driving too fast, smoking, drinking and having high-risk sex. We have found the genes connected to intelligence, obesity, schizophrenia, childhood aggression, antisocial behaviour, depression and all manner of other things.

There are Biobanks in NSW that specialise in melanoma, stroke, sleep, children’s cancer, gynaecological issues and problems with the brain. I know it is a little ‘brave new world’, and we need to be careful it doesn’t turn into an Orwellian nightmare. But limitless possibilities, and hope for those who are sick: there is something to be said for that, isn’t there?



For this story I have used the following sources:











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