Friday, January 10, 2014

Pharmacogenetics To Redefine Medical Diagnosis

The age of genetic testing made its impact when the human genome sequencing project was completed in 2003. From that point onwards, the understanding of drug behavior and how different therapies can be modulated has continued to evolve.

More specifically, genetic testing today refers to the detection of mutations that define a therapeutic response in humans. Pharmogenomics has also provided a key insight into the understanding of disease initiation.

A recent study conducted at the University of Washington School of Medicine points out a gene PON1, which plays an important role in cardiac activity. Previously, physicians thought that the high density lipoprotein being cardio-protective would play a role in cardiovascular risk stratification.

However, the findings reveal that there is a liver based enzyme, encoded by the gene PON1, which protect against a number of human diseases. Using genetic testing, the physician can know the activity level of the enzyme and which therapy would best suit it.

Popularizing resources

A major trend that has allowed pharmacogenetics to establish itself is that of bioinformatics. Bioinformatics uses the data of DNA and proteins in living organisms and modulates them in the form of simulated drugs that physicians can administer.

An example for professionals in this regard is the ExPASy bioinformatics resource portal, where the doctor or a pharmaceutical researcher can check the secondary structure of any protein, and effectively decide which drug would work best.

There are also conduit resources that are helping healthcare professionals to use medication monitoring and manage the medication therapy of patients. According to, the use of advanced technology by these resources, combined with research and education, helps doctors and relevant professionals personalize treatment plans, improving patient outcome and safety.

Among the many benefits of such an approach, two are most important. First is the fact that the data can be used to decide whether the drug being given is effective or not. Enzymatic detoxification has been proven in a number of studies as the best method to know the efficacy of a drug.

Secondly, the drugs that are given in cancer therapy are harmful to normal body cells. However, using molecular medicine, which is based on the understanding of genetic behavior, targeted therapy can be selected.

The pharmaceutical sector and healthcare professionals are looking forward to the cure of complex diseases such as cancer and autoimmune disorders. The existent mode of treatment focuses on reducing the damage or managing the symptoms.

However, genetic intervention and therapies such as siRNA provide a new avenue of hope, which means that pharmacogenomics can become a dominant field.

The underlying principle in this approach is that the alteration of gene expression is responsible for disease. Genes encode proteins through RNA as per the central dogma of molecular biology. By inhibiting RNA formation, the formation of toxic proteins in the body can be inhibited. This is an excellent approach, which provides a promising discovery strategy.

It is now up to the doctors to utilize the effectiveness of pharmacogenomics to help reform healthcare.

The above entry is a guest blog post.

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