Application and Advantages of Artificial Intelligence and Machine Learning in Genomics

We have realised a number of important breakthroughs in health and medicine in recent years and the main reason for most of these breakthroughs is through the use of advanced technology. If we consider the field of genomics itself we have not only realised a drastic decrease in the cost of DNA sequencing but we can now actually the science of DNA sequencing for practical purposes in the medical field. Artificial Intelligence and Machine Learning have made genomics much more useful to normal everyday people in numerous ways.

So, what is a genome and how genomics is useful? As is common knowledge, DNA is what drives a living organism as it has the instructions needed for it to live its day to day life. Genome is the organism’s complete set of DNA, a copy of which is available with every cell in the organism’s body. Genomics is the study of the genes that are the basics of most human ailments, which is why genomics has such huge relevance in medicine and healthcare.

The most happening technological concepts these days, Artificial Intelligence, AI and Machine Learning, ML has applications in most areas of our life. AI and ML are useful in Genomics too in numerous ways right from variant calling, genome annotation and variant classification to genetic diagnosis. Looking at it this way, one might feel that there is hardly any practical application of AI and ML in Genomics or there is a long way to go before us as normal people can reap the benefits in real life.

But in reality, thanks to the lowered cost and the practicality of the technology, the real-life advantages and practical applications of Artificial Intelligence and Machine Learning in Genomics are numerous. Here are some of the most important and practical ones:

As we have pointed out before almost every one of the ailments we suffer with have some basis or the other in our genes. Genomics plays an important role in studying the various genetic factors and the effect of the environment on the various chronic diseases like cancer, diabetics, etc. Since we already have a lot of data which continues to increase at an exponential rate, AI and ML provide researchers and medical professionals with convenient tools for quick diagnosis of diseases. In fact, researchers are not only able to pinpoint the “what” when it comes to diseases but are able to get to the “why” and the “how” too, which are more useful in not just recognizing but also controlling and in many cases curing the diseases.

This new age development of the quick and effective diagnosis of diseases using genomics has become a possibility as AI and ML allow for the quick, even rapid processing of data required for rapid diagnosis.

Another area where people have recognized the potential of genomics is in the treatment of chronic diseases, especially cancer. Researchers are looking at innovative technologies that not only help identify the faulty DNA and the mutations in the genome but also have means to actually snip-off or deactivate the problem areas as a way to treat health problems. Though it is through genomics that researchers have been able to develop such treatment methods, AI and especially ML are making it possible to make the treatment methods as precise as possible and even help in minimizing the side-effects of this revolutionary treatment process as much as possible.

Thanks to the combination of AI and ML with genomics we are looking at a future where it becomes common for people to not only be diagnosed but also given a personalized treatment program depending on their DNA, genome and genetics and thus do away with the current and in many cases ineffective one-size-fits-all treatment procedure.

We have discussed the current applications of AI and ML, along with genomics in the diagnosis and treatment of illness till now. Apart from diagnosis and treatment, this dynamic combination can also help in the prevention of diseases through monitoring of Pathogen outbreaks. Given the craze of DNA sequencing and the increased incidence of people opting for DNA sequencing there can be a point in future where researchers have enough information to predict and thus control epidemics before the actual outbreak. Thus, AI and ML already have a number of practical and important applications and the importance is bound to increase in future.

• https://www.genome.gov/about-genomics/fact-sheets/A-Brief-Guide-to-Genomics
• https://blog.produvia.com/ai-in-genomics-f1701a05133