October 8, 2024
Genomics and Newborn Screening Workshop
IPOPI was honoured to attend the Genomics in Newborn Screening Workshop held on September 25-26, 2024, in Ljubljana, Slovenia. The meeting was organised by the team at the Ljubljana Children’s Hospital and Slovenian screening programme with support from the International Society for Neonatal Screening (ISNS). The workshop provided an inspiring forward-thinking programme on genomic sequencing and its role in newborn screening, including feasibility as a first or second-tier test, or in a programme separate from the current screening system. The topics covered during the meeting were wide-ranging and included the technicalities of genomic sequencing and variant analysis, data management, best practices, ethical/legal aspects, psychosocial considerations, newborn screening policies and challenges and future directions in genomic newborn screening. Johan Prévot, IPOPI’s Executive Director, was invited to provide an overview of the work of Screen4rare and why a European collaborative approach was needed to ensure more equitable access to newborn screening and prepare for future innovative developments. Among his take-home messages, Mr Prévot highlighted that:
- Expertise is available through the European Reference Networks (ERNs) – which bring together leading experts on different diseases (diagnosis, treatment and care) with representatives of patient organisations.
- There is a need to learn from one another to improve the governance of existing NBS programmes.
- An EU-wide NBS expert advisory committee free from bias or national interests is needed to provide trusted high-quality information to support national decision-making and prepare for future developments
- The ERNs’ involvement together with screening experts is key in the fostering of equity on NBS for RDs in the EU.
- International Neonatal Screening Day is an opportunity to celebrate newborn screening & further help to ensure more equitable access to NBS
The meeting provided a great opportunity to share knowledge and experience, but also new ideas and potential follow-up projects. IPOPI would like to thank Dr Urh Groselj, Dr Jernej Kovac, Dr Ziga Remec and all Ljubljana and ISNS colleagues involved in the organisation of this great meeting. Of note as well was the participation of Prof Ed Naylor, a former colleague of Dr Robert Guthrie, who through his attendance at the meeting helped connect the origin and past of neonatal screening more than sixty years ago with the current status and future.
Lastly, the event in Ljubljana was also a great opportunity for Johan Prévot to meet with Prof Tadej Avcin, IPOPI’s MAP member for a visit to the Department of Allergology, Rheumatology and Clinical Immunology at the Children’s Hospital, University Medical Center Ljubljana.
