Clinical Director at Genomics England
Amanda Pichini is the Clinical Director at Genomics England, where she provides clinical leadership across Genomics England's services, particularly the Newborn Genomes Programme. She received her Master of Science in Genetic Counselling from the University of Toronto, Canada, and has previously worked as a clinical genetic counsellor in Canada and England. Her work focuses on implementing genomic medicine, addressing ethical challenges and educating healthcare professionals to deliver effective patient and family-centred care.
Genomics could have a transformative impact for newborn screening, explains Amanda Pichini...
The Generation Study – run by Genomics England, in partnership with the NHS in England – aims to sequence the genomes of 100,000 newborns, to help understand whether we can improve how we diagnose and treat actionable rare genetic conditions...
Genomics England has decided what rare conditions will be investigated as part of its Generation Study, and has published an initial list of 223 that will be screened for in newborns...
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