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🚨Abstract submission for our conference on 28/29 February 2024 has been extended! New deadline 31st October 2023🚨 Theme: Exploring progress: qualitative health research through crisis, disruption and emergence Find out more & submit abstract! ⬇️⬇️ ucl.ac.uk/qualitative-he…

Very pleased for (and proud of) my Cardiff MSc student Holly being featured in the most recent Genomics England Researcher On The Rise blog 😁. Read all about her research looking at the content of NHS #WGS results letters.

I'm on the organising committee for this year's UCL Qualitative Health Research Network conference (in-person workshop 16 Feb, followed by online conference 28-29 Feb). The programme looks super interesting. Hope to see some of you there!

New #qualitative paper led by the excellent ⭐ Rhys Dore ⭐ looking at the experience of transition to adulthood in young people with primary ciliary dyskinesia. tinyurl.com/3m7a2cws Transition marked by identity-formation, creating support systems and becoming an autonomous adult.

Calling all #paediatricians and #communitypaediatricians working in England! We are conducting a short survey looking at your experience of using genomic tests such as whole genome sequencing in the NHS Genomic Medicine Service . Please help: tinyurl.com/paediatricWGS

Calling all #paediatricians working in England! Please complete our short survey on your experience of using genomic tests in the NHS Genomic Medicine Service. LINK HERE: redcap.slms.ucl.ac.uk/surveys/?s=CEJ… Population, Policy and Practice Department BACCH Genomics England British Academy of Childhood Disability

This week I joined a conversation with the Genomics England podcast, where we discussed the impact of a “no primary finding” result, and the experiences, expectations, and hope for those that undergo genetic testing. Listen here: ow.ly/SQ4B50QT66J Population, Policy and Practice Department National Institute for Health and Care Research

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:

To coincide with DNA Day, I was interviewed by the Journal of Genetic Counseling about the experience of parents receiving a 'no finding' result from whole genome sequencing. Listen to episode 3 here: dnadialogues.podbean.com National Institute for Health and Care Research Population, Policy and Practice Department @JanaGurasashvi SWAN UK (syndromes without a name)

In July, with Celine Lewis and Dr Ania Zylbersztejn, I presented at the Genomics England Research Summit on our process and impact evaluation of the Generation Study. You can watch a recording of this presentation here: vimeo.com/genomicsenglan… #healtheconomics #newborn #screening

Very pleased to be leading with Mel Hill the evaluation of Genomics England Generation Study to understand the acceptability and feasibility of genomic newborn screening. Great team involved including James Buchanan Cecilia Vindrola Genetic Alliance UK Kerry Leeson-Beevers Population, Policy and Practice Department

Let's set the record straight!! Read our joined statement with European Society of Human Genetics (ESHG) condemning attempts to resurrect discredited race science to promote the pseudoscience of eugenics, in response to recent investigation shared by the The Guardian and Channel 4 bsgm.org.uk/news/bsgm-eshg…

Well done Ria Patel for an excellent presentation!

New paper on preparedness of community paediatricians for genomic medicine (GM): rdcu.be/edlBt Whilst viewed positively, variation in uptake exists due to lack of time, resources, skills and not seeing GM as a priority Population, Policy and Practice Department UCL Great Ormond Street Institute of Child Health National Institute for Health and Care Research

Well done Ria Patel for your award at the @RCPCH conference today presenting our research on #anxiety and #qualityoflife for parents of children with rare undiagnosed conditions. Great to see this work resonate with paediatricians. Population, Policy and Practice Department UCL Great Ormond Street Institute of Child Health National Institute for Health and Care Research