Genetic testing for inherited diseases – it is not just about diagnosis

Abstract

Just over two decades ago, in October 2004, the first complete sequence of the Human Genome was published (International Human Genome Sequencing Consortium, 2004). It was the culmination of a massive and expensive collaboration between 20 sequencing centres across the world, spanning more than a decade of work and at an estimated cost of over €2.5 billion. This first complete genome build made available the sequence of 92% of the 3 billion nucleotides that make up a human genome.