The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

  • 0, London, UK.

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Summary

This summary is machine-generated.

Polygenic scores (PGS) are acceptable for cancer risk assessment in primary care, but more research is needed to understand their clinical impact and address implementation challenges, especially for diverse ancestries.

Area Of Science

  • Genomic Medicine
  • Cancer Epidemiology
  • Primary Care Research

Background

  • Polygenic scores (PGS) offer potential for cancer risk estimation, aiding early referral and risk stratification in screening programs.
  • This review focuses on the utility of PGS for identifying individuals at risk for common cancers encountered in primary care settings.

Purpose Of The Study

  • To explore the potential of using polygenic scores (PGS) for identifying individuals at high risk of common cancers in primary care.
  • To assess the acceptability and clinical impact of PGS-based cancer risk assessment tools.

Main Methods

  • Systematic literature search of two electronic databases up to November 2023.
  • Inclusion of quantitative, qualitative, and mixed-methods studies on PGS for breast, prostate, colorectal, and lung cancer risk in primary care.
  • Quality assessment using the Mixed Methods Appraisal Tool (MMAT) and data analysis via narrative synthesis.

Main Results

  • A cancer risk-assessment tool incorporating PGS was found acceptable to patients and healthcare providers.
  • Key implementation challenges include limited evidence for PGS in non-European ancestries and the need for enhanced genomic medicine education.
  • Limited impact on psychosocial outcomes and health behaviors was observed, though potential applications for prostate cancer in primary care were identified.

Conclusions

  • Cancer risk assessment using PGS in primary care is acceptable but lacks sufficient research on clinical impact.
  • The limited number of identified studies necessitates further investigation before widespread clinical implementation of PGS can be recommended.

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