Genomics research assumes more relevance today than it did 10 years ago. It is exciting to note that the decades following the success of the human genome project have seen the rise of revolutionary high-throughput sequencing technologies like NGS (next-generation sequencing), which have facilitated the generation of huge volumes of sequencing data, at significantly low costs, thereby enabling many researchers to investigate human diseases and disorders at a molecular level. The impact of genes on human health was known but the ability to generate insights to help our understanding of the disease became a reality with the advent of the advanced genomic sequencing technologies. This has tremendous implications when we consider the population characteristics in various geographies such as India, Middle East etc.

The genetic services ecosystem consists of genetic service providers and research / technology firms. The former consists of commercial labs, or providers with labs, that tailor testing to match commercial demand and financial viability. The latter comprises of informatics firms, life science firms that are interested in genomics research and academic research centres focusing on deriving genomic insights for commercial and academic objectives. Interpreting the vast amounts of genomic data from sequencing a patient sample and generating a clinically actionable report poses a key opportunity for bioinformatics and big data analytics firms.

Discovery of causal links between genes and diseases have improved human health care through blockbuster drugs and diagnostics. Genomics has the potential to establish such causal links in diseases of unmet medical need far more rapidly than traditional genetics methods. Some examples would be discovery of LDL receptor from families with hypercholesterolemia, discovery of loss of function mutation in Adenomatous polyopsis coli (APC) gene and discovery of PCSK9 in cholesterol metabolism.

The idea of sequencing the human genome was conceived as early as in the year 1984. However, it took another 16 years to come up with a rough draft of the human genome. It was a significant milestone in the history of science when International Human Genome Sequencing Consortium (IHGSC) in the year 2000 announced the rough draft of the human genome sequence.

Indian population structure presents a unique opportunity to investigate complex diseases. Indian population originated from a small number of homogeneous founder families that migrated out of Africa around 40,000 years ago. Subsequent stratifications gave rise to population isolates in which the disease alleles were created and maintained across generations. Following the success of Human Genome Project, India undertook a genome-wide association study (GWAS). A GWAS may not involve total genome sequencing but instead can map very large numbers of markers involving single nucleotide changes (single nucleotide polymorphisms (SNPs)) to find which markers correlate with particular conditions or diseases. ‘Indian Genome Variation’ project was launched in the year 2003. The project involved the study of more than 1,000 bio-medically important and pharmaco-genetically relevant genes in normal healthy individuals in Indian populations. But further research and analysis are required to develop a more comprehensive base line data for genomic variations in Indian population.

Such baseline data will enable researchers, academicians and scientists to derive inference from this vast knowledge pool thus helping them to identify those genetic markers which can be a major cause for an individual’s disease. Companies such as MedGenome, a leader in genomics-based diagnostics and research with a vast experience in the genomics diagnostics in India are a pioneer in developing this Intellectual capital from India.

We can see such population  characteristics in some other parts of the world such as the Middle East, where factors such as high consanguinity rates have led to a high burden of genetic disorders in the population. This has led to an increased focus on genomics and biomedical research efforts to further advance healthcare services in the region.

Further applications of genomics research supports pharmacogenomics, wherein we study how an individual's genetic inheritance affects the body's response to drugs. Genomics diagnostics players translate this into clinical practice. Examples are Clopidogrel dosage response test, Warfarin dosage test and Statin induced myopathy predisposition which help in understanding genetic variations thus warranting any untoward response to drugs that might prove to be hazardous to the patient. Apart from private companies, even public institutions such as Department of Biotechnology (DBT) are also active in pharmacogenomics.

The success of a pharmaceutical drug can be greatly enhanced by adequate patient stratification that contributes to the clinical trial design. The genetic biomarkers help in identifying the right patient group for the study which then can be commercialized as a companion diagnostic along with the drug. The biomarkers also ensure that the clinical trials are efficient in terms of effort, cost and success rates. Genomics research players can collaborate with global pharma and biotech to provide relevant inclusion and exclusion criteria based on the genetic sequencing and analysis in the population for multiple disease areas.

Understanding the genetic underlying reasons for a particular disease condition / disorder can be very useful in exploratory research and drug discovery. Targeted therapies and drug formulation are made on the molecular basis of disease which will lead to novel target identification and cure.

Ageing is one of the major areas of promising research that studies the impact of genetics on the process and mechanism involved in the ageing process. With a large population, isolated population cohorts and with an increasing life span of the population, Indian firms have an opportunity to contribute insights in an area of global interest. Understanding this can also suggest breakthroughs in old age ailments, a key issue that the western world faces currently.

With the extensive amount of genomic data generated, the study of protein expression becomes highly relevant and natural extension of the research process. Proteomic approaches are being used to understand dynamics of nuclear matrix proteins during development, for deciphering protein complexes in the context of chromatin structure or the siRNA-related or other biological processes. All this reflects a good foundation that will help larger proteomics efforts and programmes.

Genomics as a tool for exploratory research and drug discovery is gaining prominence and is here to make an impact on the healthcare outcomes. Public and private organizations across geographies will have to develop long term plans to use these latest advancements in science for health care.