The specific genetic causes of thousands of rare genetic conditions have been defined due to improvements in genomic sequencing, computing power and international collaborations to phenotype individuals with similar clinical features. Here was a situation where we had known about the genetic predisposition to profound, irreversible hearing loss for 25 years and not had the means to intervene.1 A POCT which could generate a result at the bedside and facilitate antibiotic administration within an hour in a baby with suspected sepsis could, in theory, result in the prevention of nearly 200 babies each year in the UK, and potentially many more across the world, from going deaf. ...I had not previously considered that we had potentially fallen foul of the Human Tissue Act, 2004,2 and that as the chief investigator of the study, this potential breach could lead to a 3 year prison sentence.