2003 saw the completion of the Human Genome Project and opened the doors to massive amount of nucleotide base level information about the HUMAN GENOME. The project delivered the sequence data of roughly 3 billion bases of DNA that make up a human genome. The humongous data so generated also gave a lot of clarity about what information do sequences contain for making specific molecules and proteins that allow human cells to function and control how the body grows and operates. These sequences of letters (A, G, C, T) of the genetic code gave us an opportunity to appreciate nature’s complexity and enlightened us about the complete hereditary blueprint for making a modern human or Homo sapiens.
Along with this it also gave us a better insight into understanding of human genomic variations (deletion, duplication, insertions, inversions & translocations) and their contributions to a number of diseases. Variants in genes can alter the expression, or activity of the enzyme, reflecting a mixed response to various environment factors, chemicals and molecules. It is also recognised that variants in an individual’s genome affect metabolic pathways that may increase the function of medicines or make them less effective. SNPs (single nucleotide polymorphisms) in genes not involved in drug metabolism are also sometimes precarious for variable drug responses. These situations may involve variants in genes encoding the proteins upstream or downstream of the pathways with which drugs interacts. Additionally, there are genes unrelated to the therapeutic effect but related to drug metabolizing enzymes and drug transporters whose genetic variability has been associated with interindividual differences in pharmacokinetics and pharmacodynamics. Such diversity of factors may result in variation in drug efficacy, safety and treatment outcomes in a number of frequently prescribed drugs.
Personalized medicine is not a new term and has been in practice since a long time. Personalized medicine also used synonymously with precision medicine is a rapidly evolving medical approach based on an increased understanding of the molecular mechanism of diseases that seeks to personalize health care by taking a patient’s genetics and other characteristics into consideration. This transformation has allowed us to group patients who would best benefit from a specific treatment and addresses the common observation that patients with apparently the same disease diagnosis or clinical symptoms often exhibit contrasting responses to the same treatment.
This opportunity to target the therapies relies on patient’s inherent characteristics. To better understand these characteristics, the indicators of pathological processes or markers of response to a treatment called biomarkers are analysed and taken into consideration. These biomarkers are detectable biological traits, which can be genetic or level of a substance in blood/body fluids and last but not the last imaging. Genetic factors can alter the expression, selectivity, or activity of the enzyme, reflecting a diversified response to drugs and contribute for 20 to 95 percent of patient response variability. A lot of modern diagnostic tools, particularly companion diagnostic tests /next generation sequencing assays are utilized to understand patient’s biomarker status These biomarker’s information is essential to select patients who will benefit from a specific medicine or identify others who are at risk of severe side effects
With the involvement of available genomic information and ever-growing list of relevant genomic biomarkers, the domain has seen a significant change in the approach and the use of the available information to generate care insights in a way that were not available previously to prevent or treat human disease resulting in improved healthcare outcomes.
