We're doomed we're saved #22

Show notes

Polygenic risk scores (PRS), put simply, look at gene variants across the human genome in order to determine an individual's risk of getting a disease, from different types of cancer to type II diabetes. PRS could complement current risk prediction models and lead to a more accurate risk prediction. However, for PRS to become a useful clinical instrument, transparent ways to assess their performance and careful communication of disease risks to individuals are key. In episode 22 of We’re doomed we’re saved, Andreas Horchler and Louise von Stechow speak to two PRS researchers, who contributed to the international and interdisciplinary, EU-funded INTERVENE project. Brooke Wolford, a Postdoctoral Fellow in the HUNT Center for Molecular and Clinical Epidemiology at the Norwegian University of Science and Technology and Kristi Läll, a researcher in statistical genetics at Institute of Genomics, University of Tartu, share their expertise on PRSs and discuss the potential of PRSs in the clinic and pinpoint strategies for addressing biases in PRS.

Learn more about IINTERVENE here: INTERVENE is coordinated by the Institute for Molecular Medicine Finland at the University of Helsinki. The project includes 17 research and other organizations from 10 countries. Learn more about INTERVENE here: https://www.interveneproject.eu/

You can read more about Brooke at

https://bnwolford.github.io/

Also check out recent publications here:

https://www.medrxiv.org/content/10.1101/2023.11.20.23298215v1 https://www.medrxiv.org/content/10.1101/2023.06.12.23291186v1

Content and Editing: Louise von Stechow and Andreas Horchler

Disclaimer: Louise von Stechow & Andreas Horchler and their guests express their personal opinions, which are founded on research on the respective topics, but do not claim to give medical, investment or even life advice in the podcast.

Learn more about the future of biotech in our podcasts and keynotes. Contact us here: scientific communication: https://science-tales.com/ Podcasts: https://www.podcon.de/ Keynotes: https://www.zukunftsinstitut.de/louise-von-stechow

Image: Acton Crawford via Unsplash

References: PRS background and clinical implications

  1. https://www.statnews.com/2019/04/30/als-polygenic-analysis/
  2. https://www.nature.com/articles/s41591-021-01549-6
  3. https://pubmed.ncbi.nlm.nih.gov/32423490/
  4. https://www.acmg.net/PDFLibrary/Clinical-Application-Polygenic-Risk-Scores.pdf
  5. https://www.nature.com/articles/s41588-018-0183-z
  6. https://www.nature.com/articles/s41467-020-19966-5
  7. https://www.nature.com/articles/s41436-018-0406-9
  8. https://www.nature.com/articles/s41436-020-0884-4
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681845/
  10. https://pubmed.ncbi.nlm.nih.gov/33009504/
  11. https://pubmed.ncbi.nlm.nih.gov/26392438/
  12. https://pubmed.ncbi.nlm.nih.gov/30309464/
  13. https://www.helsinki.fi/en/news/genes/personal-genetic-risk-motivates-positive-changes-health-behaviour-study-shows
  14. https://pubmed.ncbi.nlm.nih.gov/32709988/
  15. https://www.nature.com/articles/d42473-019-00270-w
  16. https://www.nature.com/articles/s41698-021-00176-1
  17. https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(23)00156-0/fulltext
  18. https://hpi.de/digital-health-cluster/pressemitteilungen/2021/intervene-verbesserte-krankheitspraevention-durch-einsatz-von-ki-und-genomik.html
  19. https://www.myadlm.org/science-and-research/clinical-chemistry/clinical-chemistry-podcasts/2023/polygenic-risk-scores_genomes-to-risk-prediction
  20. https://pubmed.ncbi.nlm.nih.gov/32722720/
  21. https://pubmed.ncbi.nlm.nih.gov/31322649/
  22. https://www.medrxiv.org/content/10.1101/2020.09.18.20197137v1
  23. https://www.sciencedirect.com/science/article/pii/S0002929718302362
  24. https://pubmed.ncbi.nlm.nih.gov/35130028/
  25. https://www.ebi.ac.uk/gwas/
  26. https://pubmed.ncbi.nlm.nih.gov/35896674/ Risks and ethical implications
  27. https://www.nature.com/articles/s41588-019-0379-x
  28. https://www.nature.com/articles/s41576-023-00637-2
  29. https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1098439/full
  30. https://www.nature.com/articles/s41591-024-02796-z?fromPaywallRec=true
  31. https://www.nature.com/articles/s43856-021-00028-w
  32. https://www.eesc.europa.eu/en/news-media/news/artificial-intelligence-eu-law-should-set-safe-boundaries-high-risk-applications-says-eesc#:~:text=The%20European%20Commission%20
  33. https://pubmed.ncbi.nlm.nih.gov/33509269/
  34. https://www.nature.com/articles/s41588-020-0580-y
  35. https://pubmed.ncbi.nlm.nih.gov/1531726/
  36. https://pubmed.ncbi.nlm.nih.gov/26637716/
  37. https://arxiv.org/abs/2106.10041
  38. https://pubmed.ncbi.nlm.nih.gov/34192436/
  39. https://permalinks.23andme.com/pdf/23_19-Type2Diabetes_March2019.pdf
  40. https://www.fda.gov/news-events/press-announcements/fda-allows-marketing-first-direct-consumer-tests-provide-genetic-risk-information-certain-conditions
  41. https://www.forbes.com/sites/kerryadolan/2022/12/09/exclusive-google-cofounder-sergey-brin-has-quietly-donated-more-than-1-billion-toward-this-one-specific-disease/
  42. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988778/
  43. https://pubmed.ncbi.nlm.nih.gov/28182268/
  44. https://www.nature.com/articles/s41431-022-01194-8

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