Talk Additional Sessions track
S0003 - NextGen Project: Genomic Penetrance aspects of NextGen
Tue, Mar 18, 2025 · 11:50 AM–12:50 PM CET Delhi Room, Congress Center Basel
About this session
In NextGen, we are developing novel AI tools for cardiovascular medicine using multimodal datasets from Biobanks. This session explores the relation of genomic penetrance to diversity and bias in datasets assessing their utility in training robust AI algorithms, a key element of EU regulation.
1) Penetrance and disease expression – identifying disease causing genes in individuals may save lives and decrease disease burden. However, penetrance (expression of disease) may be much lower in individuals enrolled in ‘disease agnostic’ population biobanks. This could have detrimental impact on the individual (such as precluding employment in a high-risk occupation, denying luxury insurance (life, disability, long-term sickness), disqualify from competitive sports.
2) Diversity and bias – can genetic screening counter this by being inclusive, or, will this worsen? Lack of non-European genomes limits scientific ability to classify novel genetic variants (which may be benign or pathogenic).
3) Consent and the sharing of information – clinical and research consent differ. Sharing of genetic information for clinical reasons is needed to screen family members and help re-classify genetic variants (co-segregation studies). Sharing research genomic data differs by nation/region and limits the ability to conduct research (understanding ancestry relationships as well as validation and reproducibility).
Programme:
- 1. Setting the Scene — Anwar Chahal, Catherine Chronaki, Jasmine Gratton
- Panel Discussion — Evangelia Anna Markatou
Speakers
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HL7 Europe
Moderator
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Director and Consultant Cardiologist · WellSpan Health
Speaker
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European Medicines Agency
Speaker
