Pharmacogenomics Services Scope in Healthcare SectorHealthcare 

Pharmacogenomics Services: Scope in Healthcare Sector

The study of the role of the genome in medication response is known as pharmacogenomics. Its name (pharmaco+genomics) represents the integration of pharmacology and genetics.

Pharmacogenomics investigates how a person’s genetic makeup influences his/her pharmacological reaction. It investigates the impact of acquired and inherited genetic variation on medication response in patients by connecting gene expression or single-nucleotide polymorphisms with pharmacokinetics and pharmacodynamics (drug absorption, distribution, metabolism, and elimination).

With the rise of direct-to-consumer (DTC) pharmacogenomic testing, developing sub-markets are expected to stimulate the total pharmacogenomics services industry.

According to BIS Research, 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 forecast period 2021-2031.

Services in the Pharmacogenomics Ecosystem:

Pharmacogenomic services have changed the medical industry. The expansion of these services into direct-to-consumer tests has broadened the worldwide reach to include the healthcare spectrum, further tailoring treatment modules. Some of these services are briefly discussed as follows.

  • Genotyping: Genotyping is the discovery of minor genetic variants that have the potential to cause major changes in phenotype, including both physical characteristics that make us distinctive and pathological abnormalities underlying illnesses. With customized treatment based on an individual’s genetic composition becoming more common, genotyping has been widely utilized to identify mutations in drug-metabolizing enzymes that result in unique medication reactions after drug administration.
  • Identification of Single Nucleotide Polymorphisms (SNPs): Single nucleotide polymorphisms (SNPs) play an important role in the evolution of pharmacogenomics. SNP-based genetic profiles are considered as fingerprints that are used to determine an individual’s susceptibility to various diseases and treatment reactions. Microarray and pyrosequencing methods are examples of widely used technology for identifying SNPs.
  • Pharmacogenetic Testing: Pharmacogenetic testing examines certain genes to determine the sorts of drugs and dosages that are appropriate for a person. Pharmacogenetics, which is sometimes used interchangeably with pharmacogenomics, focuses on specific genes, whereas pharmacogenomics focuses on the entire genome. Pharmacogenetic testing, often known as drug-gene testing, is becoming more popular as a result of an increase in the number of deaths caused by adverse medication reactions. Precision medicine has been founded on the basic necessity to execute accurate prescriptions that respond to individual response mechanisms. Precision diagnostics have been enabled by specific genetic testing to comprehend genetic systems in the patient’s body. These testing services have also resulted in improved medicine reactions, which has accelerated the awareness of healthcare.

Challenges in the Growth of Pharmacogenomic Services:

Following are the challenges to the growth of pharmacogenomic services:

  • Advances in genomic analysis technology have resulted in increased use of next-generation sequencing (NGS) data in clinical practice. Cancer, uncommon disorders, and pharmacogenomics are just a few of the major sectors where genetic data is being used to improve the application of precision medicine. However, in daily clinical practice, the severity of adverse drug reactions (ADRs) and the relevance of pharmacogenomic studies to avoid them are relatively underestimated.
    Another challenge is the difficulty in finding and keeping staff for high-complexity testing centers. The number and variety of skill sets required have increased significantly, making it increasingly difficult to find highly skilled personnel. This is further worsened by the pay restrictions imposed by academic institutions. As a result of such circumstances, these specialist high-complexity testing centers become unavailable, as they only serve a small portion of the population, limiting access to improved medical treatments.
  • With the continuous and fast improvements, new genomic platforms necessitate considerable capital investment and a usual high-test volume to enable scale operation and competitive pricing points. Furthermore, building and sustaining several technological platforms is challenging. The developing practice of providing rigorous sequence and copy number testing exemplifies this limitation. Access to a genome-wide cytogenetic copy number variation (CNV) detection technology may be advantageous until NGS is as precise.

    However, molecular and cytogenetic laboratories have traditionally been maintained independently at academic medical institutions (AMCs), which sometimes impose barriers to merging these platforms to simplify comprehensive testing.

    The vast majority of prospective pharmacogenomic biomarkers are discovered in small sample sets and require statistical confirmation in large, well-defined external cohorts. Another factor to consider in targeted genotyping is population ethnic disparities. Such differences may restrict the selection of genetic variants that are common in one community but not in another.

As a result, one variant cannot be uniformly used while constructing countermeasures. This frequently creates scientific and economic problems for big pharmaceutical companies seeking to develop these specific medications and countermeasures. Such issues are persistent constraints to finding effective therapies, and as a result, they also contribute to the slowdown in the growth of the pharmacogenomics services market globally.

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