A genome is an organism’s complete set of DNAs, including all of its genes. Genomics is an arm of biology that studies the structure, function, evolution, mapping, and editing of genomes. One has to clearly understand the difference between genetics and genomics – the two are often confused between. Genetics is the study of individual genes present in an organism and primarily their roles in inheritance. On the other hand, Genomics is aimed at collective characterization and understanding of an organism’s entire set of genes.
In a way, an individual’s genome is a unique set of information that maps out the building blocks for him or her and establishes the uniqueness of the individual over another. Every physical, behavioural, medical and inheritance driven characteristic that the person is associated with has a specific sequence of DNA within their genome responsible for that characteristic.
We well understand that genome is the key to understanding an individual at the cellular level along with his or her characteristics, idiosyncrasies and above all medical conditions or the susceptibility to one. And, that is exactly where this gets interesting. If the genes hold the key to an individual’s traits there must be deep information available in them about why and how diseases affect the individual and whether there exists a pattern in the genes of various people who are susceptible to a specific medical condition.
Once this correlation can be firmly established the treatment and preventive practice for multiple ailments including ones which are hard to treat can be easier to manage and control.
The effort to map genomes started with microorganisms as early as the early 1980s. This project was completed in 2003 after sequencing the entire genome for one individual. Subsequently, genomes of multiple other individuals have been mapped to create a considerable sample size for the 1000 Genomes Project. The technology from Gene studies has shifted from Genotyping to exome sequencing to WGS or Whole gene sequencing.
WGS maps the entire about 6 billion markers of an individual’s entire genome. The cost of WGS has sharply come down owing to technological advances made by companies like Illumina and hence today this stands as the preferred mode in Genomic Science Research.
The ambitious Human Genome Project conceived in 1984 and executed across over a decade has cost over 1 Bn$ to sequence the complete genome sequence of 1 human being. From then privately funded quests by firms such as Celera Genomics attempted to bring down the cost. Scientific advancements in mapping techniques have over the years bought down the cost significantly,
As I write this article once can get his or her genome sequencing done in its entirety for $599.Also, by 2023 the cost of the same process is expected to come down to lesser than $100. From the same process costing millions of dollars to the current price has also been a journey of great technological advancement.
Genomics firms have primarily taken 2 routes – Consumer Genomics & Clinical Genomics.23&Me was one of the first entrants in the field of commercially available genetic information or Consumer Genomics.
The approach used in Consumer Genomics is Genotyping. Genotyping employs different techniques like the single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial genome sequencing. Once the genotypes are known, the individual's variations can be compared with available information to determine the likelihood of trait expression, ancestry inference, and disease risk.
It helped individuals look at specific gene reports and understand their traits, ancestry and also get limited health insights. ‘The health insights could determine:
*Health Predispositions – The chances of developing specific ailments. E.g.: Type 2 Diabetes. Genetic Mapping can predict up to 37% the chance of developing Type 2 Diabetes
*Carrier Status – Certain inherited conditions could affect regular human functions like childbearing.
*Wellness – Multiple genes can be responsible for our bones, muscles, skin, and give us insights about how we could age. These insights can directly translate into lifestyle choices towards a better and healthier life.
In Clinical Genomics, the other end of the privately-run Genomics organizational spectrum exists companies like Veritas, the pioneer in the Full Genome report commercialization area. Today it makes an individual’s entire genome sequencing for a price of $599 which they proclaim would go down further in the next few years.
In the process, the DNA variants are checked against multiple disease groups and actionable insights about nutrition & lifestyle choices, needs for medical interventions, & screening or attention areas are provided.
Scientists in the area of Genomics are currently focussing on the next step of making better use of the data available to help make informed choices and decisions about lifestyle and treatment.
While advances are already being made in the areas of cancer research & treatment led by Genomics, the other areas that can expect to see a lot of activity are in the space of chronic diseases. Pharmacogenomics or the study of the effect of medicines on different individuals mapped until the genome level is also on the rise.
While there has been quite a lot of development in the Genome sequencing part, there exists a lot of opportunity in the Bio-informatics and counselling areas also, which will tie in the information to the insights being communicated. Companies in this space are tapping AI to add strength to the interpretation of the data obtained from sequencing.
The Big Pharma companies are also showing a lot of interest in Genomic Research C. While in-house initiatives are lesser, most of the Pharma giants have created partnerships through investments in Genome Research companies (GSK invested heavily in 23&Me) or have directly acquired companies (Amgen acquisition of Decode).
This is still an area of research and surely will take more time to reach a point where Genomes become the go-to reference for practitioners to understand their patients. While an individual’s uniqueness is hidden somewhere within the over 3 billion base pairs, we would need a lot more data point to establish definite correlations. The need for a lot more data that could effectively and precisely determine diagnostic conclusions effectively is at the fore of current Genomics research.
Also, this area of research is heavily controlled and regulated by policies and Governments and not yet entirely understood by the regular consumer. The naturalization will take time and effort, but, once more data and insights are available one can be quite sure about the universal ability of Genomics to change the way our world looks at managing and treating diseases.
Genome data for larger populations, mapped along with environmental, physiological and biological data is going to be the determinant of how diseases and medical conditions are affected by genes. Governments of several countries are on their way to build Genome data libraries for their whole population to forward such research. At the helm of such projects are companies like Illumina which provides sequencing for organizations such as the United Kingdom’s Genomics England, which in December 2018 reached its goal of sequencing 100,000 genomes from National Health Service patients with rare diseases, their families, and people with some cancers—then expanded its goal to 5 million whole genomes. Other population genetics projects with which Illumina is involved include Australia’s Genomics Health Futures Mission, the French Plan for Genomic Medicine 2025, and the Singapore 10K Genome Project.
In India CSIR (Council of Scientific & Industrial Research) has been at the helm of Genomics related initiatives. It conducts the annual Genomics India Conclave where leading Genetic Research firms like Genotypic, the academia, and the Biotechnology industry participate to discuss and understand how Genomics can be applied to Agriculture, Diagnostics, Bio-Tech education, and other such areas.
Genomics is a call to the Future. It is the science that helps us know ourselves with a precision that is incomparable to any other. Therefore, the possibilities of using this information to help humankind battle diseases and live better are enormous. In a way, we still cannot even fathom how far-reaching the insights of one’s Genome set can be. It has the potential for sure to change the way we look at ourselves.
While it seems that we are still at a phase where not much can be derived from the limited Genome data that is available, we can see how fast the industry is moving towards collecting population-wide data that helps in better analysis and predictions.
We, as scientists, entrepreneurs and consumers need to be aware of the huge power that lies in this information and commits unanimously to use it wisely and use it only for the greater good of humanity.
Genomics will for sure change our world, the hope is that in only changes it in a better way.