Key content The NHS Newborn Blood Spot test screens babies for nine treatable rare conditions using a heel prick blood sample. Around 8000 rare diseases affect 5–10% of the population, mostly starting in childhood. 10% of rare disease genes have interventions that can modify outcomes, highlighting the need for improved diagnosis. Whole‐genome sequencing (WGS) has transformed the diagnosis and treatment of rare conditions and cancers, with potential for population screening. International studies are assessing genomic newborn sequencing (gNBS) for early detection and treatment of genetic conditions. The Generation Study is an NIHR portfolio study, run by Genomics England, in partnership with NHS England and aims to sequence the genomes of 100,000 newborns to screen for over 200 rare conditions. The study, conducted in selected NHS hospitals, involves parental consent during pregnancy and umbilical cord blood sampling at birth for WGS. The study may benefit up to 1% of babies with rare genetic conditions, offering early diagnosis and treatment. Obstetricians will play a key role in understanding and communicating the challenges and opportunities of gNBS. Learning objectives Understand the current newborn screening landscape for rare diseases. Explore opportunities and challenges of gNBS. Learn about the Generation Study. Ethical issues Informed consent, privacy, impact on families and equitable access.
To et al. (Wed,) studied this question.