
Amanda Pichini
@amandapichini
Clinical Director @GenomicsEngland 🧬Genetic counsellor 🧬 proud Canadian 🍁 loves a good food market 🧺 own views
ID: 596676407
01-06-2012 18:11:52
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Calling all nursing & midwifery educators - we're running this excellent course for the 2nd time, to help you develop approaches to embedding #genomics into your teaching. The RCN Royal College of Midwives 💙 WeNurses 💙 WeMidwives 💙💛 Clinical Nurse Educator Network 💙 Council of Deans of Health

There're lots of questions to work through on genomic newborn screening. We see it as a responsibility to do so with large, well-designed studies, working with policy makers, experts, patients & the public. Read about it here in Nature Medicine rdcu.be/dLgVH

The focus for today's Genomics Conversation is healthcare professionals. We have a range of resources and information available for clinicians engaging with whole genome sequencing and the NHS Genomic Medicine Service: genomicsengland.co.uk/clinicians #GenomicsConversation Genomics Education

New research via NHS Genomic Medicine Service showing WGS can improve the care of children with cancer. A great example of using innovative technology to inform individualised care, and of what we can achieve together for patients with WGS as a part of public healthcare nature.com/articles/s4159…

Looking forward to seeing many of you on Tuesday at the Genomics England Research Summit - engaging conversations to be had about ethics, enhancing diagnosis, the Generation Study, therapeutics and emerging technologies - introduced by Participant Panel members #genomics

Inspiring work by Australian Genomics Murdoch Children's Research Institute (MCRI) colleagues, ensuring education and training in #genomics has sustainable, long-term impact

Great presentation showing the impact that reanalysis and diagnostic discovery can have for patients & families waiting for a diagnosis #genomics #GERS2024 Genomics England NHS Genomic Medicine Service

Grateful to Celine Lewis James Buchanan and team for designing (and soon conducting!) a through evaluation of the Generation Study to ensure we can provide evidence for future decision making about genome sequencing in newborns #GERS2024 Genomics England

Fantastic session by John McDermott on implementing pharmacogenomics -- "Genetic testing must be embedded within a model of service delivery" with data that is meaningful, integrated & timely -- essential to address the research-to-clinic translation gap #GERS2024 Genomics England


The Generation Study is a ground-breaking research study in partnership with the NHS which will sequence the whole genomes of up to 100,000 newborn babies and look for 200+ rare conditions in early childhood. Find out more: ow.ly/RVuJ50TBVQf Department of Health and Social Care NHS England



This large-scale evaluation study underscores the importance of a genetic diagnosis in children with severe developmental disorders to ensure timely referral, enable appropriate care, and to access relevant patient support groups. Genetics in Medicine Open sciencedirect.com/science/articl…


Mon 4 Nov sees the latest episode of #TheRoadToGenome arrive & it's a fascinating interview with Amanda Pichini, Clinical Director Genomics England & Genomic Counsellor chats about her current role, the Generation Study & genomic counselling Listen: eu1.hubs.ly/H0dkTgt0

It was a pleasure to chat with Helen North East & Yorkshire Genomics about Genomics England, the Generation Study, genetic counselling, mainstreaming and future opportunities in #genomics - thanks for a great conversation!


