An amazing body of work by Sergio A. Silverio and colleagues on maternity care during the pandemic. Highlights the value of #qualitative research.

Congratulations Jana Gurasashvili on being awarded the #ESHG2023 ELPAG Early Career Award for your #qualitative study on the role of #hope for parents who don't get a diagnostic result from #genomesequencing. Very well deserved 😁🎉🥳👏 #proudsupervisor

I got a promotion to Principal Research Fellow at UCL!!! 🥳☺️💪🤸🥂#celebratethewins

🥳🥳 Nature Reviews Genetics paper from me and Prof Zornitza Stark on the state of play and direction on research into + enabled by genomic newborn screening is out! Lots going on🌎wide Lots of potential Lots of complex questions to engage on together with experts, participants & wider public

My European Journal of Human Genetics commentary piece on #genomic testing for #RareDisease. Applying a #behaviouralscience lens, I've focused on what we know, where the gaps are, and how we can better ensure genomic advances are translated into patient & public benefits: nature.com/articles/s4143…

🚨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