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Polygenic Risk Prediction in Diverticulitis.

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A new polygenic risk score (PRS) predicts diverticulitis occurrence and severity. Surgeons find PRS useful, especially for intermediate cases, potentially improving patient counseling and decision-making for this common condition.

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Area of Science:

  • Genetics and Genomics
  • Gastroenterology
  • Surgical Decision-Making

Background:

  • Diverticulitis requires improved risk stratification for surgical decision-making.
  • Polygenic risk scores (PRS) quantify genetic predisposition to disease.
  • Surgeons' integration of PRS into clinical practice is currently unknown.

Purpose of the Study:

  • To derive and validate a PRS for predicting diverticulitis occurrence and severity.
  • To assess the potential utility of PRS in surgical decision-making for diverticulitis.

Main Methods:

  • A PRS was developed using 44 single-nucleotide polymorphisms from the UK Biobank.
  • The PRS was validated in the Michigan Genomics Initiative (MGI) cohort.
  • A discrete choice experiment surveyed colorectal surgeons on clinical factors and PRS utility.

Main Results:

  • The PRS was associated with diverticulitis incidence and severity in MGI participants.
  • Patients in the highest PRS decile had increased odds of diverticulitis and severe disease.
  • Surgeons indicated high utility for PRS, particularly in intermediate clinical scenarios.

Conclusions:

  • An externally validated PRS effectively predicts diverticulitis risk and severity.
  • PRS may aid in patient counseling and decision-making for recurrent diverticulitis.
  • Surgeons are receptive to PRS, suggesting its potential role in managing complex cases.