Amanda Pichini

Clinical Lead for Genetic Counselling

Amanda Pichini headshot

Finding a Needle in a Haystack - panel discussion

Amanda will join panellists to respond to sound bites from people who have faced the uncertainty and pain of a diagnostic odyssey – trying to unravel what condition they or their child may have. Amanda will approach this topic with particular expertise in Genomics England’s Newborn Genomes Programme. Next year, the Programme will establish a co-designed NHS-embedded research study to explore the benefits, challenges, and practicalities of sequencing and analysing newborns’ genomes. She will be able to share how decisions will be made about which conditions the Programme will include when we begin sequencing babies’ genomes; and how different stakeholders, including members of the rare disease community, have – and will continue to be – involved in this Genomics England study.

Amanda provides clinical expertise and leadership across several teams and services at Genomics England, particularly with the Newborn Genomes Programme. She received her Master of Science in Genetic Counselling from the University of Toronto and previously worked in Toronto and Bristol providing clinical genetic counselling to patients and families with a wide range of conditions. She was involved in delivering the 100,000 Genomes Project in the West of England and led the development of pathways to mainstream genomic tests into a variety of specialities. Amanda has also developed and published competency frameworks and resources to support healthcare professionals in facilitating genomic tests and providing family-centred care.

My 3 wishes for the future of rare disease are:

  • That research into the possibilities and potential for whole genome sequencing advances knowledge to benefit people affected by rare disease
  • That participant voices are represented in policy changes that might result from rare disease research
  • That healthcare professionals of all backgrounds are equipped with the knowledge and skills required in their role to support families with rare diseases