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What was the Human Genome Sequencing Project
and was it worth doing it?
The postulation of the laws of hereditary by Mendel in the initial years of twentieth century
created a spark and zeal to all the researchers of the world to understand the structure and
function of the genes and ultimately expand the genetic alphabet. The progress in the
genetics can be broadly categorized into four main phases- the first being the phase of the
establishment of the primary basis of hereditary i.e. the chromosomes, second phase
showed the molecular basis i.e. the DNA double helix which was when Watson and Crick
proved the double helical structure. A number of progressive and remarkable works were
done in the third phase with the invention of recombinant DNA technologies and DNA
sequencing methods. The ongoing fourth phase has been the most promiscuous one with
the studies that was able to encode the first gene and also the Human genome project
which made the genomic era a reality(1){Lander, 2001 #25}{Lander, 2001 #25}{Lander, 2001
#26}{Lander, 2001 #27}{Lander, 2001 #27}. The idea of sequencing the gene of Homo
sapiens was brought about by a group of researchers a5er Frederick Sanger introduced the
technique of sequencing DNA in mid 1970s (2-4). Though the main objective of HGP to
sequence all the genomes of human being was simple to state but it was audacious to read
and analyse every single gene within the DNA. This provided a new hope to understand and
find new treatments for many diseases that a<ict human.
The genetic inheritance of a baby is determined from the time a baby is conceived, receiving
characters like if the baby will have dark skin or brown eyes or will it be su=ering from life
threatening disease. All the characters of a baby is wri>en along the two helical structures of
its DNA in the form of more than 3 billion genetic base pairs. All the humans are 99.99%
identical in their genetic codes(5) and only the tiniest di=erence in our genes can be hugely
important as they contribute to the variant characters. Nature is an excellent proof-reader
but sometimes there are minor differences or say an error in a single le>er which gives rise
to dreadful disease such as cystic fibrosis, sickle cell anaemia, thalassaemia or other genetic
disorders. So, cracking the code for the identification of the mini di=erences in the DNA that
might be responsible for genetic disorders was what human genome project was all about.
Human genome project (HGP) is a spectacular achievement in the scientific research area
which determined the sequences of the base pairs that make up the DNA(6, 7). It is the
biggest international collaborative scientific project with the combined effort of scientists
from all over the globe(8).
Since 1990, scientists all over the world have been involved in reading the billions of A, T, C
and G of DNA. First, they predicted it would take at least 15 years which had a reason for
that as previously scientists spend years and almost their whole career in reading just a
handful of human genome(9). With the old technology that encoded only a few hundred
le>er in a day, that seemed a herculean task but with the invention of computerized
sequencing machines(10), thousands of genes could be encoded every second. So, with such
advances in the technology, a rough dra5 of the genome was completed in 2000 and in 2003
the complete sequencing of the genome was announced(7, 11).
The completion of the HGP came with a lot of promises. The project was like finding the map
or the blueprint of a human being or we can also say it was like finding the password for
