The Evolving Utility of Genetics
The emergence of genetics as a scientific field, and the subsequent discovery of DNA, is undoubtedly the most important development in biology since the publication of Charles Darwin’s “The Origin of Species”.
In the last century there have been many innovations, cultural disruptions and world changing technologies, but nothing compares to the transformative nature of genetics.
2013 marked the 60th anniversary of the most important moment in the history of genetics.
In 1953, Rosalind Franklin’s experiments allowed James Watson and Francis Crick to solve the structure of DNA, revealing how hereditary information is encoded in the now iconic double helix. Since then, the door to the realm of genetics has been held wide open, not only for Scientific endeavour, but for the improvement of everyday life.
DNA has given us a new window into understanding how biological systems work. By looking into this window, we hope to be able to identify, and find solutions to, health problems which have escaped all previous attempts at explanation.
Soon, the utility of genetics in medicine will take flight. Precision medicine, an initiative that is already well underway, aims to reveal the underlying genetic variants that influence our unique responses to drugs and medicines. Doing so will pave the way for truly bespoke prescriptions, with improved efficacy and reduced potential for side effects. Beyond that, gene editing technologies such as CRISPR hold promise for replacing costly lifelong treatments of genetic diseases, by providing real, ‘one shot’ cures.
The potential of the responsible application of genetics is not just limited to the medical industry. The genetic modification of crops also holds promise, particularly in a world with an ever increasing amount of people, and an ever reducing amount of arable land. GMO crops are a topic of hot debate, but the act of modification is just a tool, in itself it is neither good or bad. It depends what the modification is, what it is used for, and how thoroughly the entire process is regulated.
One example of a positive use for GMO crops is Golden Rice — a rice strain that has been modified to produce beta-carotene, a precursor to Vitamin A. Vitamin A deficiency is estimated to kill 670,000 children under 5 each year, primarily in countries that depend on unvaried rice based diets, and could be alleviated through technological advances. Initiatives such as these have huge potential to reduce suffering in the developing world.
The Criminal Justice system is another aspect of life that DNA has breathed new possibilities into. In the past, crime scene investigation had to rely on blunt implements such as contextual clues and eyewitness reports. The inclusion of DNA fingerprinting to crime scene analysis changed all that, providing a razor sharp tool that is near foolproof — the chance of mistaken identity from DNA fingerprinting is less than one in a billion. This has not only helped bring criminals to justice, it has also kept innocent people out of jail.
Simply put, DNA has revolutionised modern society , and continues to change the way we view and interact with the world. Yet, we have barely scratched the surface of the global reservoir of genetic information.
While we have sequenced the human genome, the vast majority of genetic material on earth remains untouched. Estimates for the total number of plant and animal species on earth range from 2 million up to 50 million, and that’s before counting micro-organisms. A recent statistical analysis from researchers at Indiana University concluded that 99.999 % of species of microorganisms remain undiscovered. This would put the estimate for total number of species on earth at over 1 trillion, each with their own unique genome, each with information we can learn from. When viewing the world at this scale, the possibilities for further discoveries truly start to become endless.
We do, however, have a long way to go before we get there. As is common in vast scientific fields, the more we learn, the more we become aware of the gaps in our knowledge. One route to improve our understanding is to study how the genome is shaped by evolutionary forces, to give us clues on where we should start looking to find the most useful information.
But even the question of how and where to start looking is no simple matter.
Scientists involved in the ENCODE (The Encyclopaedia of DNA elements) project, an international consortium launched to identify all the functional elements in the human genome, estimate that around 80% of the human genome has a biochemical function, meaning it either codes for protein, or regulates other areas of genetic activity.
This estimate has come under fire from some groups, who argue that such a definition of ‘function’ is too broad. A new study conducted by researchers at Oxford University used an alternative approach to discern which parts of the genome are vitally important for life. To do this, the researchers analysed how much of the human genome had resisted accumulating change over the last 100 million years of evolution. The reasoning being that resistance to change in this way indicates a function that is vital to life. Using this definition, the researchers concluded that only 8.2% of the genome is ‘functional’.
Arriving at a consolidated definition of ‘functional’ is of huge importance, because it once defined, functional sequences will serve as the first port of call for identifying important polymorphisms and genetic targets. It is a way to accelerate the search for the needles in the giant haystack of our genome.
This lack of consensus illustrates just how complicated and dynamic the field of genetics is.
One of the qualities of life that make it so captivating, is that it is neither simple or easy to understand, Our crowing achievements, our greatest technologies, and our most elaborate computational systems all pale in comparison to the exquisite complexity of biology.
Genetics has opened the door to a new realm of information, more diverse than we can conceive, and perhaps more useful than we can yet imagine. But this is a realm we have only tentatively begun to explore — The real work of understanding the human genome still lies ahead.
