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Amanda Pichini on Muck Rack

Amanda Pichini

As seen in: Nature, BMJ Open, PET
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Articles

Whole genome sequencing for rare genetic conditions begins in newborns

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By Joanne Delange Verified, Amanda Pichini
| PET
The Generation Study 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 (see BioNews 1172). This groundbreaking research search study is being run by Genomics England in partnership with the NHS in England and has involved extensive consultation with the public, parents and families affected by rare conditions, as well as healthcare professionals, policymakers and scientists.
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Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students

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By Anna Scott, Amanda Pichini, Michelle Peter, Lydia Seed
| BMJ Open Verified
Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
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Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation - European Journal of Human Genetics

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By Angus Clarke, Amanda Pichini, Holly Ellard
| Nature Verified
Abstract Whole genome sequencing (WGS) is being used in diagnostic testing for certain clinical indications within the NHS Genomic Medicine Service (GMS) in England. Letter writing is an integral part of delivering results. However, no national guidelines for writing results from WGS exist.
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