A genomic test for colorectal cancer risk: is this acceptable and feasible in primary care?

Sibel Saya, Jennifer G. McIntosh, Ingrid M. Winship, Mark Clendenning, Shakira Milton, Jasmeen Oberoi, James G. Dowty, Daniel D. Buchanan, Mark A. Jenkins, Jon D. Emery

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)


Introduction: Genomic tests can predict risk and tailor screening recommendations for colorectal cancer (CRC). Primary care could be suitable for their widespread implementation. Objective: We aimed to assess the feasibility and acceptability of administering a CRC genomic test in primary care. Methods: Participants aged 45-74 years recruited from 4 Australian general practices were offered a genomic CRC risk test. Participants received brief verbal information about the test comprising 45 CRC-associated single-nucleotide polymorphisms, before choosing whether to undertake the test. Personalized risks were given to testers. Uptake and knowledge of the genomic test, cancer-specific anxiety (Cancer Worry Scale), psychosocial impact (Multidimensional Impact of Cancer Risk Assessment [MICRA] score), and impact on CRC screening behaviour within 6 months were measured. Results: In 150 participants, test uptake was high (126, 84%), with 125 (83%) having good knowledge of the genomic test. Moderate risk participants were impacted more by the test (MICRA mean: 15.9) than average risk participants (mean: 9.5, difference in means: 6.4, 95% confidence interval (CI): 1.5, 11.2, p = 0.01), but all scores were low. Average risk participants' cancer-specific anxiety decreased (mean differences from baseline: 1 month -0.5, 95% CI: -1.0, -0.1, p = 0.03; 6 months -0.6, 95% CI: -1.0, -0.2, p = 0.01). We found limited evidence for genomic testers being more likely to complete the risk-appropriate CRC screening than non-testers (41 vs. 17%, odds ratio = 3.4, 95% CI: 0.6, 34.8, p = 0.19), but some mediators of screening behaviour were altered in genomic testers. Conclusions: Genomic testing for CRC risk in primary care is acceptable and likely feasible. Further development of the risk assessment intervention could strengthen the impact on screening behaviour.

Original languageEnglish
Pages (from-to)110-121
Number of pages12
JournalPublic Health Genomics
Issue number3-4
Publication statusPublished - Sept 2020


  • Cancer screening
  • Clinical utility genomics
  • Colorectal cancer
  • Polygenic risk score
  • Risk prediction

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