Ethical issues raised by new genomic technologies: the case study of newborn genome screening

Over the last two decades, the ability to sequence a person's genetic code has improved exponentially, while the cost of doing so has plummeted. As genome sequencing is used more widely, diagnoses are being found for people with previously unexplained rare disease, and this has raised hopes that such analysis might usefully be employed to detect and mitigate diseases as early as possible in the life course. However, research with adults by initiatives such as population biobanks should shake our confidence in our ability to make clear health predictions from a genetic code - in many cases, we are learning that the links between genomic variants and disease are far less strong than we once thought. The UK Newborn Genomes Programme aspires to sequence up to 200,000 babies at birth, and analyse their genomic data aiming to identify 'actionable genetic conditions which may affect their health in early years. This aims to ensure timely diagnosis, access to treatment pathways, and enable better outcomes and quality of life for babies and their families' (Genomics England, 2021). This is a laudable aim, but the path from obtaining genome sequences to enabling better outcomes will not be straightforward and illustrates many of the ethical challenges raised by the use of new genomic technologies. We focus particularly on the challenge of determining 'results' from the analysis of a genetic code, against a backdrop of promotional public discourses which tend to amplify best case scenarios from genome sequencing while minimising its potential to generate uncertainty.