Sarah Norcross, director of PET, went to Oxford to an event entitled 'Making Progress with Newborn Screening.'
This day-long newborn screening event explored the challenges around balancing the benefits of extending screening for babies with rare conditions, with the involvement this requires from babies who do not stand to benefit personally.
The team at the Centre for Personalised Medicine at the University of Oxford put together an enticing programme. The speakers covered newborn screening form a variety of disciplines and angles.
Among the topics discussed were the potential benefits of research with genomic data, and the complexities of asking consent for genomic data collection from healthy babies. Luckily, many of the the genomics community were in the audience to contribute..
The challenges of interpreting genomic variation in a screening context, the challenges for families and clinicians of managing uncertainty, and the challenges of living with a rare condition were all put under the spotlight.
PET has a longstanding interest in newborn screening, having produced an event on this topic in 2021. If you missed it, a film of the event is available for you to watch.
One of the main areas of discussion was Genomics England's Generation Study. PET has produced six events for Genomics England on this important project and these have been compiled into a play list for you on YouTube.
Sarah was delighted to catch up with Professor Emma Baple, from the University of Exeter, and Dr Sarah Wynne from the charity Unique, who are both taking part in our upcoming event 'Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?'
In addition to the the scientific presentations there was an art display. The Centre for Personalised Medicine had organised a competition for school pupils to submit artworks on the theme of screening newborn babies for disease. The artworks displayed were of a high standard and very thought-provoking. You can view the winning entries here.
Most of the presentations from this event are now available for you to watch here.