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Posted by Chapman333   March 28, 2013   2888 views
In recent posts I have discussed the potential medical and anthropological impacts (mainly benefits admittedly) of genetic modification and research in epigenetic phenomena. Whilst trawling through various journals and publications I constantly bumped into that term ‘pharmacogenomics’ . Then, it occurred to me that a discussion of that daunting subject just needed to be my next venture; it seems that pharmacogenomics is not as well publicized as similar areas of genetic research, yet equally interesting and controversial.

Pharmacogenomics was an idea born out of the aftermath of the human genome project, when it became obvious that sequencing a human genome was very much a feasible idea . Many people thought that by unlocking the information stored within our genes we would spark a medical and pharmaceutical revolution; changing medicine forever. Now, ten years since the human genome was drafted  medicine is still painstakingly waiting for that revolution. Genetic and epigenetic therapies offer one such avenue to exploit, but another is most certainly, pharmacogenomics. Pharmacogenomics is most simply:

‘The study of how an individual's genetic inheritance affects the body's response to drugs. The term comes from the words pharmacology and genomics and is thus the intersection of pharmaceuticals and genetics…’ .

So, the field focuses on the production of tailor-made drugs; a drug that has been adapted for you by using the information stored within your genome. It would allow a doctor (general practitioner most probably) to prescribe the most efficient and safest drug possible, as that doctor would have already taken into account your predisposing allergies, genetic disorders or inherited mutations due to the fact that he has access to your genomic map . Although, this notion may seem very appealing to a member of the public, it seems even more appealing to an employee (or employer!) from a big pharmaceutical company. Such companies strive to eliminate every source of possible adverse drug reactions, but due to certain genetic mutations (unbeknown to manufacturers and most times to doctors too), such reactions do occur . Pharmacogenomics would allow pharmaceutical companies and pharmacists to collaborate with geneticists to generate the best possible drugs and therapies for an individual. Surely, in this day in age especially, that seems too good to be true?

Commonly, pharmacogenomic studies center around the metabolism of a certain drug, thus pinpointing mutations in certain genes that cause an inability to metabolize that certain drug and resultantly cause an adverse reaction . One such example focused on a mutation in the CYP2D6 gene, in which a single base insertion generates a truncated polypeptide chain, meaning the coded protein could no longer properly form, resulting in the ability to metabolize the anti-hypertensive drug, debrisoquine . If a doctor had prescribed that anti-hypertensive drug to a patient with that mutation in the CYP2D6 gene then an adverse drug reaction would have certainly occurred; whereas if the doctor were aware of the mutation (by having access to the patients genomic map), then an alternative would have been prescribed. That is the basis of pharmacogenomics. Further studies into various other drug metabolizing pathways are being conducted . So, by determining how a certain drug is metabolized and the proteins involved with such a metabolism, researchers can track back and determine mutations that would affect the metabolism of the drug. Then, by studying a patient’s genome, that mutation (if present) can be located and an alternative drug prescribed: saving resources, time, pain and money.

One obvious advantage (the avoidance of adverse drug reactions) has already been discussed in some depth, but there are other advantages to the employment of pharmacogenomics. Anthropologically, pharmacogenomics can allow the safest, fastest and most effective treatment to be prescribed by doctors to their patients based on the patient’s individual requirements; that seems like a pretty big benefit to humanity. Also, the economic saving (either by the individual or by the health service as here in Britain) that could be made by the efficient treatment of minor conditions. Pharmacogenomics could potentially cut down prescriptions and reduce hospital admissions due to adverse drug reactions . These advantages seem obvious to me? Personally, I would be full of confidence knowing that my doctor had prescribed me a drug that works best with my bodies own resources.

However, like most up-and-coming fields of research. Pharmacogenomics has its ethical and technical disadvantages. For example, if our genomes are to be sequences and given to pharmaceutical companies or doctors, who else is allowed access to this material? Should insurance companies be made aware of our genome and adjust our health insurance premiums accordingly? That is one such area of questioning that needs to be closely looked it. In my opinion, only your doctor should be allowed access to your genome, it seems fine with me to exercise the faith of patient-doctor confidentiality . Also, we must determine the economic viability. Genomic sequencing is becoming cheaper and cheaper by the day, but should we pay out to sequence every genome considering only few people are at risk of an adverse drug reaction? Again, my answer would be yes, it goes back to that famous colloquialism ‘spend a penny, save a pound!’. But, that is another area that needs addressing if pharmacogenomics is ever to take off and become a part of mainstream medicine.

Whilst pharmacogenomics seems fairly logical (a natural progression maybe?) to me, I understand that it might not to you, there are some pretty daunting questions and issues that need resolving before we can implement this technology in any way, shape or form. But for now, researchers work merrily away clearly showing that genetic mutations affect the way our bodies react to drugs, yet our doctors are still left unaware of whether or not we carry such mutations. Possibly one day we shall see a collaboration and a success made of all this. But for now, pharmacogenomics seems a long way off from having an impact on our daily lives*.

*- Unless of course you’re undertaking research in this area!

PLEASE NOTE- This article DOES contain references and is available (with previous articles and more) via the link below:
http://biochemperspectives.blogspot.co.uk/

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