A song that many of us will remember from “The sound of music.” Here I present it to you with some changes to help you tune into genomics.
Let’s start at the very beginning
A very good place to start
When you read, you begin with–
When you sequence, you being with—
These four letters just happen to be….
Imagine you are at a cocktail party and your cool friend mentions that she just got a Genomepatri or a genetic test recently. While she said it cost her around 15000 INR( USD 199), another friend told me she got it done as well, but it was over a lakh (1799 USD), and a third said it only cost her a couple of grand INR( less than 50 USD). You are terribly confused but would like to be able to know more about yourself and be part of that conversation. You type into Dr. Google and find way too much information that is difficult to digest.
Hey, don’t worry…… you have “A-new” Acharya (sic) to help you tune into genomics easily. So let’s gets started.
Now many people may speak to you about genetic testing. This could be from 1 single marker to the entire 3.2 billion base pairs that cover 20,687 genes ( according to NHS in the UK). So the question on your mind is probably- do I need to do the entire sequencing done or just a few base pairs? The answer, of course, would lie in what you are looking for.
The genetic Starter
Let’s assume that you are 10 years old and want to do well in sports. You may want to see if you have the gene expressed the fast-twitch or the slow-twitch fibres in your MUSCLES!! We would then look at a marker in the ACTN3 gene. Similarly, there are many such single markers that you may want to find out about. These can be done by sequencing the gene or using an RT-PCR method.
The genetic chart
If you were a more sophisticated player, you may want to know if a certain diet would work best for your body type, your reaction times, your resilience, nutrition levels and more. If you are doing it for fun, you may want to know more about your traits and fun things about yourself. That would be a Genomepatri or a Genomepatri Fit report and would be based on markers across the entire genome, but they are not sequenced completely- only specific locations.
The diagnostic gene
Typically the most common use of genetic testing earlier was for diagnosing a problem where a simple symptomatic approach would be hard. A genetic test makes this much more efficient (and simple!) since it explicitly shows the data one is looking for – even in the absence of symptoms! A diagnostic genetic test could be a diagnosis or a recommendation for specific therapy. For example, it can be for screening a newborn for a multitude of conditions (Babymap), checking if you have the same mutation as Angelina Jolie called BrcaMap or getting a Whole Exome Sequencing done.
The true genetic explorer
But if you are the true explorer kind and have the moolah to spare, you can do the entire 3.2 billion base pairs. This is called Whole Genome Sequencing. Do be warned that it would imply that the raw data would be over 100GB in size and not all of that data may be immediately useful for you. The good thing is that this would be a great reference data for years to come. This would become cheaper in the years to come. Do not wait until the day you get old as your time is very valuable and the sooner you get this done, the better it is for you.
So why is it that large?
Your DNA is sequenced multiple times to reduce errors and improve the quality of the results. So it means that the amount of data that is generated could be as high as 200GB if the coverage is very high.
A, C, T, and G are the basic building blocks. Once you have these notes in your head, you can build a million permutations and combinations. Remember that we are all 99.9 % alike yet those small differences make us “Unique.”