Sarah Norris
The University of Sydney
Australia

The benefits, risks and challenges of sequencing the genome of newborns

Sarah will present findings from an Australian government funded project (genomics4newborns) that is exploring the perspectives of local stakeholders regarding the use of genomics in newborn bloodspot screening, and the circumstances under which this might be acceptable. The project is using qualitative, quantitative and deliberative methods to explore and compare the views of parents, scientists, clinicians, policy-makers, the general public, and Indigenous Australians. The integrated findings will be used to inform the development of a set of nationally-agreed principles to guide future decisions regarding the use of genomics in Australian newborn screening programs.

Link to the project: https://genomics4newborns.sydney.edu.au/

Amanda Pichini
Genomics England
UK

The Generation Study: exploring the potential of newborn genome sequencing in a national public health system 

The Generation Study is exploring the feasibility, acceptability and utility of sequencing the genomes of 100,000 babies to screen for >200 rare conditions; as well as use of babies’ genomes over their lifetimes for other clinical uses, and alongside longitudinal health data collection for wider health research. Early results from over 20,000 of newborns demonstrate detectability of treatable conditions while minimizing false positives. This talk will focus on the engagement, governance frameworks, ethical considerations and co-design approaches that have enabled sustainable and scalable implementation, as well as challenges in generating evidence and maintaining ongoing public trust. 

James R Bonham
President of the International Society of Neonatal Screening 
UK

Newborn Screening, much to explore, and also much to protect

Newborn screening is widely recognised as one of the greatest public health advances of the 20th century, with more than 750 million babies tested since its introduction and exceptionally high public confidence reflected in uptake rates exceeding 99%. Despite this success, current screening programmes identify fewer than 100 conditions, while thousands of congenital genetic disorders with potential treatments exist. Genomic newborn screening offers promising opportunities to expand detection, but also raises challenges related to variant interpretation, uncertainty in asymptomatic individuals, and reduced sensitivity in some populations; combining genomic and biochemical approaches may help extend screening responsibly while preserving accuracy and public trust.

Gulcin Gumus
EURORDIS - Rare Diseases Europe 
Spain

Shaping genetic newborn screening research through patient organisations

This talk will focus on how patient organisations can drive genetic newborn screening research forward, and on the role of EURORDIS in ensuring that patient perspectives are meaningfully included in the discussions that shape gNBS research today and gNBS practices in the future.

Lili Milani
University of Tartu 
Estonia

Pharmacogenomic studies in the Estonian Biobank

Long-read sequencing technologies are transforming our ability to detect and interpret complex genetic variation, with important implications for both research and clinical implementation. In this webinar, I will present results from large-scale long-read genome sequencing in the Estonian Biobank, a volunteer-based resource linking genomic data with extensive electronic health records for over 212,000 participants. Sequencing of 10,000 genomes using PacBio HiFi technology has revealed a substantial number of novel variants and provided improved resolution of structural variants and complex pharmacogenomic loci that are often missed by short-read approaches. The talk will highlight insights from the CYP2D6-CYP2D7 region, demonstrating how long-read data enable accurate phasing and interpretation of clinically relevant haplotypes. In addition, the webinar will discuss the return of genomic results to participants through the MyGenome portal, which provides personalised pharmacogenetic and disease risk information and has already been accessed by more than 110,000 individuals.

Karoline Kuchenbäcker
University College London
UK

Ancestral diversity in genetics: From discovery to translation 

The expansion of ancestrally diverse genetic cohorts has altered the landscape of complex disease genetics. I will discuss how ancestral and global diversity shape genetic discoveries. Whilst there is widespread sharing of genetic architecture across ancestries, loci that display heterogeneity in causal genetic effects across populations can offer unique biological insights. As we advance towards global precision medicine, integrating genomic data with diverse environmental and social factors is crucial to account for population-specific contexts that can influence disease risk or treatment response.