The first sequencing of the human genome cost $2 Billion in 2003. Now you can sequence your whole body genome for $200. Should you get one? Is Genomics all about finding out where your ancestors hail from or is it the holy-grail to solve cancer and other rare diseases? I want to share with you my learnings as I try to navigate the complex Genomics industry. Lets get started with some basics and then get deeper into therapies, AI/ML models and finally the future of Genomics.
What is Genomics?
We have all read about it in Biology - Gene, Chromosome and DNA. They are present in every single cell of the human body. The double helix structure you typically see in images is the DNA. Without getting into weeds, DNA contains the genetic information of life and acts as a set of instructions to build and maintain you. Every DNA has little sections known as Genes which carry a set of instructions that makes you unique. And finally DNA is coiled and packaged into a chromosome. If the DNA code is a set of instructions that’s carefully organized into chapters (chromosomes) and paragraphs (genes) , then the entire manual from start to finish would be the Genome. In simple words, Genomics is just a study of Genomes.
What is Genome sequencing?
As you know every software pretty much boils down to one’s and zero’s (Binary), every genome boils down to four characters (ATCG). The ATCG are four chemicals - Adenine (A), Cytosine (C), Guanine (G), and Thymine (T). So Genomic sequencing is just printing out your entire DNA represented by ATCG and how it's assembled in your body. While the advancements in technology have made it easier to sequence your genome, understanding of your genes and genetic variations and its impact on diseases is still an ongoing journey and we have a long way to go before we can make sense out of your genome report. In fact, the medical profession is not recommending this for healthy patients.
What's messing up my Gene?
When a cell divides it has to make a copy of every DNA molecule so it can be exactly split between the two new cells. We have around 3 billion individual DNA molecules (nucleotides) in each cell. That’s a lot of work to carry out error-free. Occasionally errors happen in genes that control a cell’s growth and so can lead to diseases such as cancer. People can inherit errors in genes from their parents, which can give them an increased risk of cancer. Other factors that damage DNA, such as tobacco smoke or alcohol, can also create faulty genes.
Genomics and Therapies
Genomics is much more than Genome sequencing or finding out where your ancestors hail from. The traditional drug research was hugely trial and error based to find out how chemicals bond. Hopefully advancements in Genomics can change that. The advancements in Genomics have given birth to life saving therapies such as Cell and Gene Therapy (CGT), Gene editing techniques such as CRISPR, and even how Covid vaccines were developed.
For example, let’s just talk about Gene editing. Recently, a teenager’s incurable leukemia (type of cancer) was effectively cleared using “base-edited” immune T-cells from a healthy donor. Base editing allows for single-letter edits in genes (remember ATCG), without causing breaks in DNA. This is like using a pencil and eraser - changing single letters in base pairs to alter specific cellular mechanisms.
Genomics and Machine Learning (ML)
Although the use of AI/ML tools in genomics is still at an early stage, researchers have already benefited from developing programs that assist in specific ways. Companies have started to develop AI systems for in-house drug discovery or diagnostics applications. For instance, in drug discovery - Imagine building a ML model to identify Gene variants and even predict therapeutic targets? The advancements in AI/ML has finally made InSilico drug discovery and Computer aided Drug Design (CADD) a viable approach to accelerate drug discovery timelines and ultimately bring drugs to market faster.
“To make sure you have the highest accuracy and sensitivity, an AI/ML-based system that trains on data sets is better at detecting nuances and figuring out how to make a variant call than humans,” says John Ellithorpe, president, DNAnexus.
The Genomics industry which was worth approximately $25 B in 2021 is expected to grow into $54 Billion by 2025. Overall, the future of genomics looks bright and will have significant impact on drug discovery and health care in general. As technology continues to improve and our understanding of genetics and genomics expands, it is expected to play a significant role in the development of more targeted, personalized, and effective therapies for a wide range of diseases.
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Subash Rajavel is the founder and Chief editor at xGenom. He has 15 plus years of experience in Health care and Life Sciences. His primary focus are Patient centric solutions, Digital Health and Next-gen Clinical Trial solutions.
You can reach him at subash@xgenom.com
Image credit: Cleveland Clinic, Alux.com
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