Is it possible to sequence the entire human genome for $100?
Let’s put this into some perspective.
The human genome is 3.2 gigabases of genetic code. Additionally, since you're diploid, you have two pairs of each chromosome, meaning your genome is actually 6 gigabases worth of data. We often test for SNPs (single nucleotide polymorphisms), or single bases in the 6 billion.
Previously, we might have charged $15 dollars for that one SNP in your 6 billion bases. That meant the entire genome would have cost $15 times 6 billion. You can do that math pretty quickly and see that’s incredibly expensive.
Since then, companies have been racing to reduce this cost. As such, you hear companies claiming to be able to sequence the entire human genome for $100. However, that is only the cost of the actual sequencing itself. It’s a little misleading. The $100 covers the cost of the sequencing reagents but not the machine they are using.
What it also does not include is the collection cost, shipping costs, and – most importantly – the cost of analyzing the huge amount of data 6 billion bases will produce. You could end up with a whole lot of data with no interpretation for $100 if the price only includes the raw data.
Without producing a good report from that data, it would be like reading War and Peace – probably worse – and nothing will put you to sleep quicker than reading pages and pages of genetic data. It’s practically indecipherable.
I think we will get the total cost down to $100 in the next 5 years or maybe even sooner as there are a lot of players in this game now. However, we aren’t there yet. Gene By Gene uses the Illumina platform who by far has the largest market share at this point, so we will remain at the forefront of any advancements in this area.
Originally posted December 16, 2022.