Pharmacogenomics, a discipline that combines the science of how drugs work with the science of the human genome, is a fast-growing field which is set to revolutionise healthcare by making it possible to tailor treatments to individuals’ genetic make-up. But one of the biggest hurdles that needs to be cleared before it can be used widely is educating healthcare professionals in its basic principles and how to apply them.
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Indeed, according to the authors of a new book on the subject, Mastering Pharmacogenomics: A Handbook for Success, until those in the clinical setting understand how they can use pharmacogenomics to help their patients in the real world, it will be simply impossible for the healthcare sector to truly take advantage of the incredible research that’s being carried out every day in this field.
Right patient, right drug
While the field of pharmacogenomics, which combines pharmacology with genomics, is still in its infancy, it’s growing at a rapid rate. Indeed, since the idea of looking at how a patient’s genes affected their responses to drugs emerged back in 1959, when the term ‘pharmacogenetics’ was coined by German human geneticist Friedrich Vogel, things have moved on significantly and we’re now at the point of studying not only how single genes can affect drug responses (pharmacogenetics), but how an individuals’ entire genome can influence responses to medications (pharmacogenomics).
It’s an incredibly effective way to ensure patients avoid side effects. "With pharmacology, we know there are always going to be adverse drug reactions," explains nursing professor Dennis Cheek, one of the four authors of Mastering Pharmacogenomics. "But pharmacogenomics can reduce that if we can identify which patients are likely to have an adverse drug reaction. A classic example is abacavir, an antiretroviral drug used to treat HIV. We know that, worldwide, about 10% of patients will have a hypersensitivity reaction to this drug, so there is a mandate in the US that you must test the patient for the specific genetic defect or mutation, which can result in this reaction. If they test positive, they aren’t given the drug."
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By GlobalDataThere are also more than 130 other drugs listed by the FDA, which have genetic indications, including blood thinners Warfarin and Plavix.
Better drugs designed from scratch
But pharmacogenomics isn’t only useful when it comes to ensuring patients are prescribed the right existing medicine; the discipline is also being used by researchers to help design better drugs from scratch.
"Using genomic technologies to design better drugs and to identify drug targets is a huge area of research now," says Daniel Brazeau, director of the University of New England’s Genomics, Analytics and Proteomics Core and one of the authors of Mastering Pharmacogenomics. "Next-generation sequencing is now allowing scientists to individualise care in the sense that having a better understanding of how a disease really works and its underlying mechanisms allows for more precision. That’s what precision medicine is all about – directing therapeutic interventions at the underlying mechanism rather than treating the symptoms."
For Brazeau, the best way to illustrate how quickly this aspect of pharmacogenomics has evolved is to look at the development of DNA sequencing technology.
"It’s progressed from $5bn to sequence one genome in 2001 to roughly $1000 to $5000 to sequence that genome now. And we’re anticipating it will cost less than $1000 to sequence a human genome and take less than a week within a year or two," he explains.
"The amount of information coming down the pike is just huge, and there is a huge need to bring healthcare professionals, not only the ones that are training now but the ones that are already out there, up to speed on pharmacogenetics and pharmacogenomics."
Education: essential to optimise the potential of pharmacogenomics
This is precisely why Brazeau and Cheek decided to team up with genetics advanced practice nurse Dale Halsey Lea and pharmacy professor Gayle Brazeau to put together Mastering Pharmacogenomics. "Frances Collins here in the US, who played a huge role in the Human Genome Project, has correctly noted that one of the major limitations and challenges to the application of genomics to medicine is educating healthcare professionals," Brazeau notes.
The book is an attempt to start to address this. As a practical guide to pharmacogenomics for nurses, the largest profession worldwide that deals with patients, it both describes the inner workings of pharmacogenomics and focuses in on what the field means for nurses as they work with patients in the real world, administering drugs. "We put our minds together and asked ourselves, what would a clinical bedside nurse need to know about mixing the pharmaco and genomic components? What can it do for them and, more importantly, what can it do for their patients?" Cheek explains.
Mastering Pharmacogenomics, therefore, covers not only the basic principles and technologies behind pharmacogenomics and how it could help prevent many diseases and relieve the side effects of current treatments, but also looks at ethics and the importance of working together with other healthcare professionals, from social workers to pharmacists and geneticists, to optimise drug therapy and patient care, as well as, finally, looking forward to the future potential of the field.
And it’s unlikely to be the last book or course of its kind, given the huge emphasis that is being placed on precision, or personalised, medicine by governments worldwide. Take President Obama’s recent Precision Medicine Initiative, one of the few items in this year’s State of the Union address to garner bipartisan support.
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"It’s a classic example," says Brazeau. "It’s all about using the technologies that are now available to use, that no one dreamed we would have ten years ago, to begin to individualise, personalise or become much more precise about treating diseases."
As the field develops further, education in the form of publications such as this will only become more important, believes Brazeau.
‘There is a huge effort underway to individualise medicine and direct new therapeutic options at the underlying cause rather than simply treating the symptoms, but it’s going to require that our healthcare professionals are educated in these terminologies and technologies before it can be widely disseminated and we can truly take advantage of all that’s coming down the pike," he concludes.
