Sequencing the human genome

Sequencing of human genomes is expected to be a routine clinical procedure 15-20 years from now and a paradigm in personalized medicine. Each of us differs in only about 0.1% when it comes to our genomes. And it is this 0.1%, which will be at the crux of the medicine of tomorrow.

Sanger’s (the double Noble laureate Fred Sanger recently died at the age of 95) di-deoxy terminator sequencing remained the principle sequencing method, albeit with improved automation) for almost 3 decades since 1977. The approach was also being employed by the NIH in decoding our genome in the Human Genome Project. Craig Venter, an NIH rebel, and his company Celera Genomics were able to do in 4 years using shotgun sequencing, what the NIH took 13 years to do – sequence the human genome. The human genome project cost $ 3 billion. Now, a human genome can be sequenced in just $1,000 -$4,000. The fall in price is not going to decelerate any time soon,

Using newly developed techniques, some of which I have discussed earlier, scientists were able to sequence 1092 people within 4 years (an year more than they aimed) comprising of participants from different ethnic groups. In a sad move by the US FDA, 23andme – a private company that provided genetic screening to individuals, has been recently asked to stop the tests. The test earlier used to cost $999, dropping down to$99.

Here is a Ted-Ed video in which Mark Keil explains how to sequence a human genome.


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