(Written by Iñigo Martincorena, Cancer Genome Project, Wellcome Trust Sanger Institute Cambridge, UK)
In the year 2001, the sequence of the human
genome was announced as a milestone in science history. This represented a
nearly complete map of the common genetic information in all of us. The project
had taken over 10 years, the work of thousands of scientists around the globe,
and it had cost approximately 3,000 million euros. This huge effort marked the
beginning of a genomic revolution in biology.
Although it provided an unprecedented
wealth of information, a single reference sequence for all humans contained
little information on what makes each of us different or on the basis of
genetic diseases. Since then, however, sequencing technologies have evolved
dramatically. Nowadays, a person can be sequenced in a few days for less than
1,000 euros, and the cost continues to drop rapidly. This has allowed us to go
from a single reference human genome to sequencing many thousands of people, unravelling
the basis of many diseases and bringing us much closer to an era of
personalised genomics in the clinic.
A field that has benefited enormously from
the boom of sequencing technologies is cancer research. Cancer is largely
caused by mutations that accumulate in our cells throughout life, which make
every tumour unique. Genome sequencing can be used to catalogue the entire list
of mutations in a cancer, providing a detailed understanding of the basis of
any given tumour. The first genome of a cancer was sequenced in 2009 at the
Sanger Institute (Cambridge, United Kingdom), where I work as a postdoctoral
researcher. Just 6 years later, over 10,000 cancers have been sequenced
throughout the world, providing a detailed catalogue of the genes altered across
a wide range of cancer types. And this number is predicted to increase to
several hundred thousand in the next few years. This is proving to be an
invaluable resource for cancer research and, as we continue to learn how to use
this vast information, it will significantly improve cancer diagnosis and
therapy.
