In 2004 molecular biologists Craig Venter and Daniel Cohen, two of the world’s leading genetic scientists wrote a landmark paper titled The Century of Biology, outlining technological advancements made in the last couple of decades in the field of molecular biology, and life sciences in general. If the 20th century was one pushed forward by physical sciences, where advancements in combustion, electricity, nuclear power and semiconductors changed the way humans live their lives, the 21st century will be the Century of Biology.
A key piece of this puzzle is a largely cloudy field of study known as Genomics. Genomics could hold the key to understanding on a fundamental level how and why our bodies behave the way it does. It is the source code, if you may, to the complex biological program that makes life possible.
What is Genomics?
Before we dive into the specifics, a little brush-up on high school biology is in order.
Our bodies are made up of cells; many different kinds performing a wide variety of functions. Each cell is made up of a nucleus and surrounding components that support the functioning of the cell. Within the nucleus resides chromosomes which, in layman’s terms, is an instruction manual describing how each cell should behave. Now, these chromosomes are made up of DNA material, which is arranged in a specific order of protein molecules, and specific strands of this DNA, much like functions in a computer program, are instructions that dictate some specific aspect of the functioning of the body.
Genes encompass the characteristics that we inherit from our parents. This could be anything from eye colour, height, weight, nose shape, voice, behavioural traits and even certain deficiencies and diseases. The study of “how” and “what” offsprings “inherit” from their parents is known as genetics.
While genetics focuses on some genes, genomics, on the other hand, is the study of a human’s complete set of genes or simply “genomes”.
The most critical point of interest within genomics research today is how modifying genes affects human health. To capture how important this is and its uses, scientists have even figured out how to exploit deficiencies or abnormalities in the immune systems of bacteria to edit genes in other organisms — plants, mice, and even humans.
The wider scope of genomics and its actual applications is still under heavy research but the consensus is that the synergy between advanced technology such as Artificial Intelligence, Machine Learning, High-Performance Computing etc. can truly revolutionise healthcare. Data generated from genomics research and applications are thought to significantly improve healthcare strategies such as disease prevention, enhanced diagnosis, or optimised treatment. Understanding genetic variations can truly help us identify the best approach towards treating a particular disease.
Years ago, the traditional approach would be to evaluate family history to assess risks. Now with access to genome sequencing and bioinformatics, much more useful information is available to healthcare professionals to take the right steps.
Gene Editing & CRISPR
Gene editing is a powerful tool that can make permanent, precise edits to the human genome. Gene editing has been in existence for years. However, CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) or Cas9 technology developed by scientists has changed the game completely. CRISPR is a pair of molecular scissors that can edit out “unwanted” genes from our bodies and provide functional cures as opposed to non-curative.
Likewise, there is also ongoing research about the possibility of editing by adding favourable genes in humans. Within the broader biotechnology space, gene editing is said to be poised for rapid growth.
At the moment we are likely to see gene-editing solutions in areas such as the liver, eyes or diseases where there’s one defect and one mutation as opposed to multiple defects and mutations. There have been successes in ex-vitro (outside the body) — such as in cancer, sickle cell disease and beta thalassaemia.
Applications of Gene Editing
- Gene Editing in Animals — Through gene editing, scientists have performed successfully in reducing the extent of deafness in mice, suggesting that human applications are imminent or possible. Similarly, gene editing has been used to curb mastitis i.e. the most prominent disease in dairy cows. Scientific studies have also showcased increased Tuberculosis resistance in cattle.
- Making Crops More Nutritious & Stronger — A fascinating application is editing crop genes to make species of a plant more resistant to a variety of things from bacteria, excess heat or cold and even pests. This would significantly help ameliorate some of the effects of climate change on crops. Further, crops can also be made more nutritious or healthier. From enhancing the disease resistance of tomatoes to stress and virus resistance in potatoes, there have been successful applications, particularly in the agriculture space. Targeting genes that cause limiting yield in rice, helped showcase an increase in yield.
- Developing Stronger Tools — At the moment, a looming concern is that there is a constant challenge to keep producing effective antibiotics as bacteria become more resistant. Gene editing tools such as CRISPR can help eliminate these bacteria completely and precisely. Although this is still under research.
- Eradicate or Re-introduce Entire Species — The far-fetched applications can also be bringing back once-extinct species into existence through gene editing and manipulation. Or even, eradicate some deleterious vectors of pathogens such as mosquitos! This is through a concept called — gene drive, which works on the fundamental idea that there’s a 50% chance of an organism passing on its gene to its offspring. Through CRISPR gene editing, scientists can try and ensure that only a specific gene gets passed on to the offspring.
Genomics Market Trends
Fortune Business Insights estimates that the genomics market size worldwide is expected to grow from $27.81 Billion in 2021 to $94.65 Billion in 2028 — achieving a CAGR of 19.4%. More attention towards the genomics market can be attributed to the pandemic — creating the need for making our healthcare practises more robust and precision-based, rather than the conventional one size fits all approach. As newer and more diabolical diseases are coming into existence — there is a significant need for the storage and analysis of DNA data to make the right medicines.
The falling costs of genetic testing have probably been one of the most significant healthcare developments over the last few decades. This can be primarily attributed to the availability of larger data sets and better technology — gradually increasing access to gene-focused treatments. To capture this — in 2001 it cost around $100 Million to sequence an individual human genome. In 2021, it costs less than $1000!
Major Global Players
Illumina — Within the genetic sequencing space, Illumina is one of the largest players in the genomics market. It has developed its proprietary sequencing technology to extract relevant data from our DNA. The development of such versatile technology has democratised access to valuable genetic information and ultimately continues to help scientists understand how different variations in our genes affect our health. Illumina estimates that 90% of the world’s sequencing data is through its Sequencing By Synthesis (SBS) technology. The company’s products have a wide range of applications from oncology, agriculture, and Infectious Diseases to Molecular and Cell Biology.
Genomic Health — Within the computational biology and genetic diagnostics space, Genomic Health is a leader that centres its vision around personalising medical treatment based on each individual’s biology. After genetic sequencing, the next step involves identifying the risk of different maladies. Genomic Health gathers insights through its intelligence tools and diagnostics to answer questions that range from the type of cancer cells present to the status of the tumour in the body.
Bluebird Bio — has the largest ex-vivo (external to the body) gene therapy data set in the world. It develops gene therapy solutions that are primarily focused on severe genetic and rare diseases. The company’s gene therapy processes aim to modify the genes in cells to treat and eradicate underlying diseases and causes.
India’s Need For Genomics
The genomics space has massive potential for a country like India primarily because of how diverse and large the population set is, offering us the opportunity to identify and study different biomarkers and find personalised treatment solutions. With a population that is showing an increasing number of chronic health diseases and inherited diseases, it becomes conspicuous that there is a need for more investments and research in this space for better healthcare.
With rising awareness, increasing technological advancements and increasing income — consumers realise the benefits of early detection of genetic diseases. There have been research initiatives such as Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) to support the identification of rare diseases and treat them.
Some of the key players in the genomics space in India are Medgenome, LifeCell, Mahyco, Igenetic, Avesthagen and Nuziveedu Seeds etc.
Genomics may well be just the beginning. While our quests to push the boundaries of human knowledge have taken us to the depths of the oceans and the expanse of space, a new wave of innovation is taking over the world where we look within ourselves to identify the secrets of life. We may soon live in a world where the answers to life-threatening diseases are living inside us, waiting to be switched on or off!
In any case, we’re thrilled to see what the future of biology holds.