Screening and Prenatal Diagnosis

Recently, an article was published in The Lancet discussing the importance of evidence-based approaches in population screening, particularly when introducing genomic analysis. The authors draw on their experiences working in the genomics field in the United Kingdom to argue that rigorous, independent, and expert evaluation is as essential for emerging population-level genomic screening approaches as it is for traditional screening, where this is the standard. Despite commercial interests in integrating genomics into population screening, it is key that such programmes show improvements in survival or quality of life which justify the potential harm and resources they incur. Current programs in the UK, while offering promising opportunities for research, are not designed to provide the type of evidence required.