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Evaluating the cost-effectiveness of polygenic risk score-stratified screening for abdominal aortic aneurysm

Author

Listed:
  • M. Kelemen

    (University of Cambridge
    University of Cambridge)

  • J. Danesh

    (University of Cambridge
    University of Cambridge)

  • E. Angelantonio

    (University of Cambridge
    University of Cambridge)

  • M. Inouye

    (University of Cambridge
    University of Cambridge
    Baker Heart & Diabetes Institute)

  • J. O’Sullivan

    (Stanford University)

  • L. Pennells

    (University of Cambridge
    University of Cambridge)

  • T. Roychowdhury

    (Yale School of Medicine)

  • M. J. Sweeting

    (University of Leicester)

  • A. M. Wood

    (University of Cambridge
    University of Cambridge)

  • S. Harrison

    (Genomics PLC)

  • L. G. Kim

    (University of Cambridge
    University of Cambridge)

Abstract

As the heritability of abdominal aortic aneurysm (AAA) is high and AAA partially shares genetic architecture with other cardiovascular diseases, genetic information could help inform AAA screening strategies. Exploiting pleiotropy and meta-analysing summary data from large studies, we construct a polygenic risk score (PRS) for AAA. Leveraging related traits improves PRS performance (R2) by 22.7%, relative to using AAA alone. Compared with the low PRS tertile, intermediate and high tertiles have hazard ratios for AAA of 2.13 (95%CI 1.61, 2.82) and 3.70 (95%CI 2.86, 4.80) respectively, adjusted for clinical risk factors. Using simulation modelling, we compare PRS- and smoking-stratified screening with inviting men at age 65 and not inviting women (current UK strategy). In a futuristic scenario where genomic information is available, our modelling suggests inviting male current smokers with high PRS earlier than 65 and screening female smokers with high/intermediate PRS at 65 and 70 respectively, may improve cost-effectiveness.

Suggested Citation

  • M. Kelemen & J. Danesh & E. Angelantonio & M. Inouye & J. O’Sullivan & L. Pennells & T. Roychowdhury & M. J. Sweeting & A. M. Wood & S. Harrison & L. G. Kim, 2024. "Evaluating the cost-effectiveness of polygenic risk score-stratified screening for abdominal aortic aneurysm," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-52452-w
    DOI: 10.1038/s41467-024-52452-w
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    References listed on IDEAS

    as
    1. Gad Abraham & Rainer Malik & Ekaterina Yonova-Doing & Agus Salim & Tingting Wang & John Danesh & Adam S. Butterworth & Joanna M. M. Howson & Michael Inouye & Martin Dichgans, 2019. "Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke," Nature Communications, Nature, vol. 10(1), pages 1-10, December.
    2. Giovanni Nattino & Michael L. Pennell & Stanley Lemeshow, 2020. "Rejoinder to “Assessing the goodness of fit of logistic regression models in large samples: A modification of the Hosmer‐Lemeshow test”," Biometrics, The International Biometric Society, vol. 76(2), pages 575-577, June.
    3. Aniket Mishra & Rainer Malik & Tsuyoshi Hachiya & Tuuli Jürgenson & Shinichi Namba & Daniel C. Posner & Frederick K. Kamanu & Masaru Koido & Quentin Le Grand & Mingyang Shi & Yunye He & Marios K. Geor, 2022. "Stroke genetics informs drug discovery and risk prediction across ancestries," Nature, Nature, vol. 611(7934), pages 115-123, November.
    4. Aniket Mishra & Rainer Malik & Tsuyoshi Hachiya & Tuuli Jürgenson & Shinichi Namba & Daniel C. Posner & Frederick K. Kamanu & Masaru Koido & Quentin Le Grand & Mingyang Shi & Yunye He & Marios K. Geor, 2022. "Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries," Nature, Nature, vol. 612(7938), pages 7-7, December.
    5. Giovanni Nattino & Michael L. Pennell & Stanley Lemeshow, 2020. "Assessing the goodness of fit of logistic regression models in large samples: A modification of the Hosmer‐Lemeshow test," Biometrics, The International Biometric Society, vol. 76(2), pages 549-560, June.
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