Up close and personal.

Then and now.

2000 years ago there was so much room for medical advances because things simply hadn't been done before. This was back when infection was rife and what would now be a routine operation would then leave your fearing for your life. If you were unlucky enough to be born before the 1800s don't think your doctor would have thought to wash his hands before putting you under (thank Joseph Lister for this phenomenon today). There haven't been many recent leaps on the same scale as those which occurred throughout the 19th century however I can think of one: Personalized Medicine.

And it does what it says on the tin.

Joseph Lister pioneered sterilization techniques and antiseptics (This work is licensed under a Creative Commons Attribution 3.0 Unported License.)

"Your differences make you beautiful."

If anyone has ever said this to you do you think they had medical treatments in mind? It seems so simple but it is only recently, when jargon about genomes and sequencing has decorated "science" news articles, that people have realized: one-size-fits-all is never the most flattering option. We need tailored medicine.

So how is this revolutionary concept even possible? This question has a one word answer:  sequencing.

In life science research there is an area called Bioinformatics. It is where biology and computers collide harmoniously together (most of the time) and is a direct result of the techy-era we are all living through. Sequencing itself simply refers to unravelling each and every one of our "codes" and this is a huge part of bioinformatics research. A DNA code is the making of every living thing on this planet and each one of us has a slightly different version of the human code, otherwise known as the human genome. You therefore won't be surprised to hear, if you haven't already, that the Human Genome Project describes a huge amount of work undertaken by scientists across the globe with the sole aim of finding out the exact human DNA code. When this was first done it took years and approximately £100 million. Now it costs about £800. See where I'm going with this yet? If it is possible to sequence human genomes at this price it is not ridiculous to envision a "sci-fi future" where your genome will be sequenced in 10 minutes at the doctors to see what is wrong with you. Once this is known, treatments can be designed specifically to treat your "abnormality" or, more technically, mutation, rather than by assessing symptoms.

The cancer conundrum.

Okay, so this might be a slight exaggeration, if you go in with symptoms of the common cold I doubt you will be subjected to full genome sequencing, but think about it on a bigger level. Cancer for example. Cancer is crippling every country, even more so now we are an ageing population. Everyone can relate to it. And everyone wants to stop it. The honest truth is we can't completely. But, we are getting better, partly due to personalized medicine.

Cancer is a heterogenous disease: every case is so different from another. Even two patients both with breast cancer may have completely different sets of mutations which have caused it. Even within one tumour the mutations could be different, depending on the position of the cell. Starting to see the difficulties? That is why learning the exact pathology and genetic make up of a cancer helps enormously when trying to treat it.

And it's not just a distant hope: at the end of last year newspapers reported that the government intended to sequence 100,000 genomes as part of a new public health initiative. In case you don't remember and so you don't think I'm making this up here are some articles which were published in December 2012:

Both the Guardian and the BBC particularly emphasize the promise it holds for cancer patients.

My only criticism of this plan however is the realism (or lack thereof) of being able to detect rare cancers with just 100,000 people. You don't have to have much statistical prowess to see the problem I'm pointing to. Rare cancers are, well, rare. If 1 out of the 100,000 shows a genetic "mark" is it reasonable to say that mark is the reason for their rare cancer? You would want to check in more people who have this rare cancer whether they have the same mutation before concluding there is a cause/effect relationship between the abnormality and the disease. Statistics are crucial for scientific research.

BUT that was just a sideline and so I stop pretending to know anything about statistics I will swiftly move on. So hopefully if you have read the post up until this point (I am aware you may be in the minority) then I will have sparked an interest in this topic in you. And, as curious people generally do, you will want to know a bit more detail. You may even be screaming at your computer screen in frustration already that I haven't once mentioned an example of personalised therapy. Guess what I'm going to do now.

The example I have chosen to illustrate the phenomena that is personalised medicine is a review article published in the journal Cancer Treatment Reviews. A journal is a collection of articles which demonstrate new scientific research. A review is when someone doesn't actually do research themselves but goes about hunting for different published articles on a topic and draws them together under a certain theme. The theme of the example I'm going to give..

Targeted therapy in metastatic colorectal cancer - An example of personalised medicine in action

Sounds relevant.

Just in the abstract, a short summary of the paper before it all gets a bit hefty, two phrases jumped out at me: "tailored treatment regimens" and "optimised outcomes".  These phrases in the same sentence already flourishes the promise of personalised medicine.

Now, tackling the hefty bit.

I am going to make an executive decision to not describe the whole scientific paper and its findings to you. Instead, only the most relevant finding to what we have already talked about will be explained. Executive decision number 2: I've done enough talking so watch this (amateur) video I made to find out more.

So what can we conclude? If your genome is sequenced and a mutation in KRAS is found, there would be no point using antibodies against the EGF receptor to try and treat the disease. In this way personalised medicine saves money, time and unnecessary discomfort and false hope for patients.

A bit of detective work.

One last thing about the above review and another little insight into how scientific research is conducted and shared with others. At the back you will find a "Conflicts of interest statement". This fleeting section actually holds unequivocal importance. It  is where we can assess if  there any ulterior motives for the conductance and publication of any research. It may shock but scientists aren't always working towards a greater good. For example, are they going to receive a big fat cheque (otherwise unheard of in the slog that is science) if they reveal a certain drug is in fact miraculous? In any industry there is always room for skepticism. In this review we learn that all the authors have connections and have received money from various drug companies. My conclusion is still that this review is legitimate but yours may be different and at least if these issues are stated people can make their own judgments. It's when they aren't revealed that alarm bells really start ringing. If a paper is submitted without having expressed any conflicts of interest and some are later discovered papers will be forever "black-marked" with this error, sort of like a blemish on your criminal record within the science community. And, as with anything, the more you try to hide something, the guiltier you look.