Genomics is here: what can we do with it, and what ethical issues has it brought along for the ride?

Abstract

2023 marks twenty years since the formal completion of the Human Genome Project (HGP). As many readers will know, this monumental international collaboration to determine the sequence of all three billion ‘letters’ (bases) in the human genome had taken legions of scientists more than a decade to achieve. Much was made of the power of this database to revolutionize our understanding of human biology and to herald the transforming potential of genetics for tailored medical treatments. Editorials at the time declared that the Genomic Era had arrived (e.g. Guttmacher and Collins 2003, Roses 2003). The phenomenal technical achievements of the HGP cannot be overstated. However, there was more than a hint of hype in the marketing of the project, not least in justifying the three billion dollars it was estimated to have cost. Between them, the official HGP and the rival Celera project had managed to produce completed reference genomes from a small collection of individuals, fewer than a dozen in total. Yet, much of the power of genomics comes not from the aspects of our DNAwe sharewith others (and those reference sequences), but from the differences that make us distinct, estimated to be roughly one base in every thousand. The available methodologies of the time simply could not deliver the types of personalised analysis promised in an economically viable and timely fashion.