Amanda Pichini (@amandapichini) 's Twitter Profile
Amanda Pichini

@amandapichini

Clinical Director @GenomicsEngland 🧬Genetic counsellor 🧬 proud Canadian 🍁 loves a good food market 🧺 own views

ID: 596676407

calendar_today01-06-2012 18:11:52

1,1K Tweet

1,1K Followers

881 Following

Celine Lewis (@celinelewis23) 's Twitter Profile Photo

We are looking for parents of children aged 5 and under to join our Parent Advisory Group. We will be evaluating a new project which will sequence the DNA of 100,000 newborn babies in England. 4 meetings over 18 months. This is a PAID ROLE. More details and to apply here:

We are looking for parents of children aged 5 and under to join our Parent Advisory Group.  We will be evaluating a new project which will sequence the DNA of 100,000 newborn babies in England.  4 meetings over 18 months. This is a PAID ROLE. More details and to apply here:
Amanda Pichini (@amandapichini) 's Twitter Profile Photo

Great work to guide teams & organisations who have data/research environments and responsibilities to maintain trust & transparency with their participants and the public

Richard Scott (@rich_genomics) 's Twitter Profile Photo

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

Genomics England (@genomicsengland) 's Twitter Profile Photo

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

Richard Scott (@rich_genomics) 's Twitter Profile Photo

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…

Amanda Pichini (@amandapichini) 's Twitter Profile Photo

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

Amanda Pichini (@amandapichini) 's Twitter Profile Photo

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

Amanda Pichini (@amandapichini) 's Twitter Profile Photo

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

Amanda Pichini (@amandapichini) 's Twitter Profile Photo

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

Genomics England (@genomicsengland) 's Twitter Profile Photo

Which healthcare professionals are involved in my genomic healthcare journey? Amanda Pichini explains 🧬 Tune in to our latest podcast explainer where Amanda goes into more detail, in less than 10 minutes. Listen to the full episode here: ow.ly/2yBL50TAX2s

Genomics England (@genomicsengland) 's Twitter Profile Photo

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

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

<a href="/DHSCgovuk/">Department of Health and Social Care</a> <a href="/NHSEngland/">NHS England</a>
Genomics England (@genomicsengland) 's Twitter Profile Photo

In our latest episode, our guests discuss how design research played a vital role in shaping the Generation Study, including designing a robust and inclusive consent process, focusing on building trust and engaging diverse communities 🎙️ Listen here: ow.ly/tx6f50THC6L

In our latest episode, our guests discuss how design research played a vital role in shaping the Generation Study, including designing a robust and inclusive consent process, focusing on building trust and engaging diverse communities 🎙️

Listen here: ow.ly/tx6f50THC6L
Muin J. Khoury (@muinjkhoury) 's Twitter Profile Photo

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…

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. <a href="/GIMJournal/">Genetics in Medicine</a> Open   
sciencedirect.com/science/articl…
North East & Yorkshire Genomics (@neygenomics) 's Twitter Profile Photo

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

Amanda Pichini (@amandapichini) 's Twitter Profile Photo

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!

Genomics Education (@genomicsedu) 's Twitter Profile Photo

New in our blog: “I’ve heard about #GeneticCounselling, but I’m not 100% sure how it may help my patient.” If this sounds like you, then our #GeneticCounsellor-written short read (for any clinician) illuminates the benefits GCs offer. ➡️buff.ly/3YOKDhb #GCAwarenessDay

New in our blog: “I’ve heard about #GeneticCounselling, but I’m not 100% sure how it may help my patient.” If this sounds like you, then our #GeneticCounsellor-written short read (for any clinician) illuminates the benefits GCs offer. 

➡️buff.ly/3YOKDhb

#GCAwarenessDay
Genomics England (@genomicsengland) 's Twitter Profile Photo

Today is Genetic Counsellor Awareness Day. Genetic Counsellors are an essential part of the clinical team, offering guidance and support to patients. Wondering what it means to be a genetic counsellor? Read our latest blog: ow.ly/OmAl50U6L1S #GCAwarenessDay

Today is Genetic Counsellor Awareness Day. Genetic Counsellors are an essential part of the clinical team, offering guidance and support to patients.

Wondering what it means to be a genetic counsellor? Read our latest blog: ow.ly/OmAl50U6L1S

#GCAwarenessDay
Genomics England (@genomicsengland) 's Twitter Profile Photo

We are working with patients, caregivers and professionals to shape the future of sickle cell research. We want to hear your research priorities so together we can focus on what matters most. Share your views via this link: ow.ly/uz5y50Uu0E7 #SickleCell #PatientVoice

We are working with patients, caregivers and professionals to shape the future of sickle cell research. We want to hear your research priorities so together we can focus on what matters most.

Share your views via this link: ow.ly/uz5y50Uu0E7

#SickleCell #PatientVoice