Genomics is increasingly hailed by many as the turning point in modern medicine. Advances in technology now mean we’re able to make out the full DNA sequence of an organism and decipher its entire hereditary information, bringing us closer to discovering the causes of particular diseases and disorders and drugs that can be targeted to the individual.
Buzzwords like “whole genome sequencing” and “personalised medicine” are everywhere – but how are they enabling a powerful medical and societal revolution?
It all started in the 1990’s with the Human Genome Project – a very ambitious venture involving 20 international partners and an investment of US$3 billion. In 2003, 13 years after it began, the project yielded the first complete human genome. Today, the cost of sequencing whole genomes is plummeting fast and it is now possible to do the job for less than US$1,000, meaning a whole host of applications both in research and in treatments.
Variants and mutations
Genetic mutations are often linked to disorders, predisposition to diseases and response to treatment. For instance, inherited genetic variants can cause blood disorders such as thalassaemia or others such as cystic fibrosis or sickle cell anaemia.
Genome sequencing is being used today in diagnostic and clinical settings to find rare variants in a patient’s genome, or to sequence cancers’ genomes (to point out genomic differences between solid tumours and develop a more effective therapeutic strategy). It is also possible to test for known simple mutations via a process called genotyping, which can find genetic differences through a set of biomarkers. In the case of thalassemia, for example, there are mutations in the HBB gene on chromosome 11.
A number of drugs, including blood-thinners like warfarin, have already been commercialised with genetic markers (such as a known location on a chromosome) linked to effectiveness and correct dosage.