Over the years, biotic life has passed through the different stages of evolution, from organisms who evolved to the change advanced to the other. The survival of different species depended on the ease with which they adopted the new conditions.

The study of natural selection is closely tied to gene response and is specific to the theory of evolution. Humans were the species that were most responsive to the change. Their ability to survive has been enhanced through genetic variation over the years.

The pharmaceutical industry is changing rapidly with the frequency at which new diseases are being discovered that threaten human life as a result of rising global temperatures, improper waste disposal, genetic mutations, and much more.

Recently, the world has seen an increase in the number of individuals taking advantage of personalized medicines. As a result, those specializing in pharmacogenomics services are experiencing a surge in demand propelled by increasing trends toward prevention and reducing adverse drug reactions.

More and more companies are now seeking experts to accelerate biomedical research and development within new pharmaceutical facilities across the globe.

The global pharmacogenomics services market is projected to reach $9,346.8 million by 2031 from $5,060.0 million in 2020, at a CAGR of 5.71% during the period 2021-2031.

What is Pharmacogenomics?

Pharmacogenomics is the study of the role of genes in the human body in response to a drug. Pharmacogenomics encompasses pharmacology (the science of drugs) and genomics (the study of a person's genes) to create, develop, and optimize safe medications, drug therapy, and doses according to a person's genotype. Its approach takes an individual's genetic structure into account, eliminating the "one dose fits all" approach.

Development in medical science ensued new and effective ways to treat diseases. Pharmacogenomics has revolutionized clinical diagnostics and is gaining popularity in the health care sector due to its various applications that ensure:

● Tailored treatment to individual genetic makeup
● Better treatment results
● Minimum side effects
● Greater efficacy
● Lower drug toxicity

How can Pharmacogenetics Help Provide Patients with Individualized Treatment Plans?

At present, genes influence countless variables, both endogenous (produced within an organism) and exogenous (from outside sources). This leaves us susceptible to various diseases, cancer being chief among them.

However, with pharmacogenomics on hand, it's possible to track down individualized treatment plans for conditions such as this. By investigating how genetic mutations interfere with drugs, researchers can better understand disease progression and treatment options for patients.

This leads to more effective drug therapy because pharmacogenomics allows physicians to determine which drugs work best for each patient and what dosage is likely to cause the least side effects.

What are the Available Pharmacogenomics Testing Services?

Pharmacogenomics testing can improve health care management by significantly targeting molecular therapy. Currently, pharmacogenomics testing is available for a limited number of drugs.

Some of them are mentioned as follows:

Warfarin Sensitivity Test

Warfarin is a drug prescribed to prevent inappropriate clotting of blood (thrombosis and thromboembolism) in people at risk. This testing determines the presence of CYP2C9 and/or VKORC1 genetic variations. Warfarin Sensitivity Test determines if one is more sensitive to Warfarin due to his/her genetic makeup.

Warfarin is a challenging drug to administer and monitor because it reacts differently to different factors, effective only within a specific range. If a patient is given too little of the drug, he/she may be at risk of forming a blood clot, but if he/she is given too much of the drug, they will be at risk of bleeding.

Thiopurine Methyltransferase (TPMT) Test

Thiopurine methyltransferase is an enzyme that breaks down thiopurine drugs that include Azathioprine (AZA), 6-mercaptopurine (6-MP), and thioguanine (TG). These drugs suppress the body’s immune system and are used to cure autoimmune diseases, acute lymphoblastic leukemia, and inflammatory bowel diseases.

The activity level of the TPMT enzyme is tested before thiopurine drug therapy is given. The genes that control the enzyme activity are also examined to make sure that individuals treated with the drugs can metabolize them.

Clopidogrel (CYP2C19 Genotyping)

Clopidogrel is an anticoagulant and antiplatelet agent that helps control the risk of heart attacks and strokes among people deemed to be at high risk for such occurrences.

People suffering from cardiovascular diseases are prescribed a clopidogrel test. This test is used to determine the probability of response to the antiplatelet drug clopidogrel by detecting variations in the CYP2C19 gene.

Technologies Used in Pharmacogenomics

The progress of the healthcare sector is highly dependent on the development of the technology used in its clinical practices and research. Technology plays a crucial role in medical sciences by providing accurate, optimized, and quick solutions.

Certain technologies used in pharmacogenomics are:

Single Nucleotide Variant (SNV) Panels:

Single nucleotide variant (SNV) panel test is one of the most commonly used technologies in pharmacogenomics. Medical professionals use commercially available micro-array platforms or custom arrays with a pre-selected panel for genetic variants. The SNVs are generated when a single nucleotide is changed in the DNA sequence.

Next-Generation Sequencing (NGS):

Next-generation sequencing (NGS) is a massively parallel sequencing technology that quickly delivers high-throughput and scalability. The order of nucleotides in entire genomes or targeted areas is determined using this technology. NGS can sequence the entire human genome within a day.

Long-Read Sequencing (LRS):

Long-read sequencing (LRS) is currently under development and still gaining popularity in research. This sequencing technology can generate reads in excess as compared to short-read sequencing. The data generated through LRS has high error rates compared to others and is expected to improve under its active development.

Limitations of Pharmacogenomics Tests

Pharmacogenomics is gaining acceptance worldwide, and healthcare professionals have shown their interest in its development and usability in clinical diagnostics. However, there are specific challenges in its adoption.

Some of the challenges are:

1. The necessity of multiple tests: Several test results are required to assess and decide how the genes of an individual will react to all medications.

2. No data on cost-effectiveness: Since there are limited publications on pharmacogenomics, therefore lack of data can not validate the cost-effectiveness of the process.

3. Lack of availability of evidence-based results: Only a fraction of test results and scientific data are available to validate the use of the tests.

4. Absence of general feeling and wide acceptance: This is due to the number of test results required, lack of evidence-based data, and apprehension around the treatment methodology.

5. Pharmacogenomics tests are not available for all medications: Pharmacogenomic tests are available for only a few medicines, which means there is a possibility that some medicines show unfavorable effects on some patients.