The Fortunes of Genomic Medicine: A Quarter Century of Promise

The culmination of the Human Genome Project in the early 2000s came wreathed in promises of a revolution in medicine and healthcare. The ensuing quarter century has seen remarkable growth in genomic medicine, as well as notable shifts in the promissory rhetoric that accompanies it.

This essay draws on a contextualist close reading of scientific and policy literature published from the 1990s to the present, using thematic and narrative analysis informed by perspectives from the sociology of expectations, to examine the role of different kinds of promissory claims in shaping the development of genomic medicine in the UK, and particularly England, over that period.

Early promises about the medical benefits that will follow from the development of genomic medicine have been scaled back and refocused as the possibilities and limitations of genomic technologies have become apparent; while investment has shifted from basic discovery resources aimed at elucidating the genetics of common disorders to clinical facilities focused on the genomics of rare diseases and cancer. Research in these areas has delivered a range of highly-publicised diagnostic and therapeutic innovations, but so far the benefits to patients have generally been modest or confined to relatively small populations, and come at a high cost, both financial and human. Meanwhile, a rather different set of promises, focused on economic growth through biomedical innovation, has been instrumental in shaping how the field of genomic medicine has developed, especially within the National Health Service. One consequence has been a blurring of the distinction between medical care and biomedical research, with genomic medicine patients and their data increasingly being reframed as an economic resource for purposes of commercially-driven innovation.

In this context, efforts to persuade patients of the personal or public value of research participation, and especially proposals to abandon the principle of clinical non-directiveness in genomic healthcare, raise uncomfortable questions about just whose interests genomic medicine, as currently constituted, is best designed to serve.