Pharmacogenomics are at the core of the change in medicine

Image courtesy of Laura Gilmore at Flickr.com

Medicine has become a field that treats the masses, instead of the individuals. This would explain why so many take pills everyday that will not actually help them and in some cases even be harmful. This imprecision has been overlooked, but not by everyone. Some physicians have started to lean towards precision or personalized medicine, especially after the announcement of President Barack Obama that launched the Precision Medicine Initiative. This initiative will not only increase the number of studies and research available related to precision medicine, but will also establish a national database of genetic and other data of one million people in the United States. And it seems that it will only be enforced even more once the 21st Century Cures Act is passed.

Clinical trials for precision medicine differ quite a bit from traditional ones mainly because it requires different ways of intervention that will not only focus on the illness, but the genetic and environmental factors which can all play an important part in a person’s particular treatment. These studies focused on individuals as opposed to the masses are also known as N-of-1 trials. They are essential to the roads towards pharmacogenomics.

By isolating the response of one particular patient, pharmacogenomics can study the way this patient’s genes affect their response to drugs. By combining pharmacology and genomics, they are taking their knowledge of the science of drugs and seeing how it interacts with the study of genes and their functions. The end result is the possibility of develop effective and safe medications, that are given in just the right doses to the person’s genetic pattern.

There are simply so many factors that have to be taken into account when analyzing the effectiveness of a drug in someone that realizing it won’t work the same on everyone is the first step towards a tailormade approach that will at the end save money and most importantly lives. Pharmacogenomics can prevent all of this by discovering the genetic variations which can help predict any adverse reactions, coined as toxgnostics.

Problems with trial and error treatment

In the case of many different diseases the standards of care will not always be enough to help the patient survive. Doing preventive exams after a certain age, undertaking treatment like chemotherapy and then moving from treatment to treatment until something works is not what any of us want if we’re the ones being treated. This is the case of most people such as is the case of breast cancer patients. Unfortunately, there are cases everyday where the “standard care” offered is simply not enough or its not offering what the patient needs.

More and more we see cases like the one of Angelina Jolie who after having a full genetic scan showed she carried BRCA1, which was the same genetic marker as her mother who passed away due to breast cancer, lead her to have a preventive double mastectomy. The National Cancer Institute states that 65 percent of patients with the mutation carried by Jolie in this case are at risk of breast cancer and 39 percent for ovarian cancer. Cases like hers have raised awareness of precision medicine.

Personalized medicine has had the most impact in cancer cases where there are documented incidents where statistics demonstrate the percent of tumors with genetic mutations that could possibly be targeted by drugs. Some of these are: melanoma (73%), thyroid (56%), colorectal (51%), lung and pancreatic (41%), breast (32%)

Image courtesy of Jer Thorp at Flickr.com

How pharmacogenomics will improve precision medicine?

The personalized approach in medicine has been on its way toward the mainstream for more than 20 years ever since the desire arose to discover the first reference of human genome. In 2003, that become a reality and for the first time ever doctors had available to them the complete sequence and map of all the genes in the human body.

Once this had been accomplished, the process of screening for mutations became a reality. By having access to this information, personalized medicine can now find different approaches to the traditional trial and error way of treating patients. By including pharmaceutical companies, as well as other interested parties like healthcare clinics or researchers, they are finding ways to apply what is being found in the genetic studies. At the same time, the goal is becoming to use genetic studies to personalize the effects of treatment and pharmacogenomics is definitely on top of the game.

How this affects pharmaceutical and biotech companies?

Pharmaceutical companies are investing millions in treatments in the precision or personalized medicine where they rely highly on genomic studies and data to be able to target specific types of cancer or diseases that affect a smaller group of the population. Personalized medicine is the next big thing and new drugs for personalized medicine is being approved more and more. As a very positive breakthrough for patients most are very willing to offer confidential information from genomic studies to further advance this type of alternative. Now there’s only the matter of trying to work out the setbacks like the high costs behind doing a full genomic study and of course there is still a lot of catching up to do by regulation agencies and other entities participating in these clinical studies and pharmaceutical development.

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