Beyond Biotech - the podcast from Labiotech Estonia's biobank: Is this the first large-scale personalized medicine initiative?
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Sep 20, 2024 Neil Ward, VP of EMEA at PacBio, explains long-read sequencing and its role in high-quality genomes. Professor Lili Milani, head of the Estonian National Biobank, leads a volunteer-based program linking genetics with national health records. They discuss using population genomics for early detection, pharmacogenetics, privacy safeguards, scaling to whole-population sequencing, and how this model could be replicated elsewhere.
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Physically Isolate Personal Identifiers
- Separate identifiers and tightly restrict access to personal data to protect privacy in biobanks.
- Lili Milani stores names and IDs offline in a room with no internet and only two people have access, while samples are multi-coded and anonymized.
Active Participant Engagement Through Recontact
- The Biobank actively recontactst participants and runs follow-up questionnaires on mental health, side effects and personality to maintain engagement.
- After COVID vaccines the portal captured many self-reported vaccine side effects and keeps participants returning.
Long Reads Improve Clinical Returns And Imputation
- Estonia sequences long-read genomes to return clinically actionable findings and to build a high-quality population imputation reference panel.
- Previously 3,000 genomes sequenced; plan with PacBio to add 10,000 long-read genomes for accuracy in recontacting clinically relevant variants.