BACKGROUND AND PURPOSE:

• Many cancers are caused by heritable factors that can be readily identified with multigene test
• Swisher et al. (JAMA Network Open, 2025) compared two population-based engagement strategies for identifying primary care patients with a family or personal history of cancer and offering eligible individuals genetic testing for cancer susceptibility

METHODS:

• Clinical cluster-randomized trial
  • EDGE (Early Detection of Genetic Risk) trial
• Participants
  • English-speaking patients ≥25 years old
  • Primary care visit between April 2021 and March 2022
• Interventions
  • Point of care (POC) engagement: Cancer history assessment conducted by staff immediately preceding clinical appointments
  • Direct patient engagement (DPE): Letter and email outreach facilitated at-home completion of cancer history assessment
• Study design
  • Patients who completed risk assessment and met prespecified criteria were offered at home genetic testing at no cost
  • Logistic regression models were used to compare approaches
  • Analysis was by intention-to-treat
• Primary outcomes
  • Proportion of patients who completed risk assessment
  • Proportion of patients who completed genetic testing

RESULTS:

• 95,623 patients had a primary care visit
  • Completed risk assessment: 13,705
• Patients who completed the risk assessment were
  • Predominantly female: 64.7%
  • Predominantly 65 to 84 years: 39.6%
• The POC approach resulted in a higher proportion of patients completing risk assessment
  • POC: 19.1% | DPE: 8.7%
  • Adjusted odds ratio (aOR) 2.68 (95% CI, 1.72 to 4.17) | P<0.001
• Neither approach was better at getting patients to complete testing
  • POC: 1.5% | DPE: 1.6%
  • aOR 0.96 (95% CI, 0.64 to 1.46) | P=0.86
• Among those eligible for testing, POC test completion was approximately half of that for the DPE approach
  • POC: 24.7% | DPE: 44.7%
  • aOR 0.49 (95% CI, 0.37 to 0.64) | P<0.001
• The proportion of tested patients identified with an actionable pathogenic variant was significantly lower for the POC approach than the DPE approach
  • POC: 3.8% | DPE: 6.6%
  • aOR 0.61 (95% CI, 0.44 to 0.85) | P=0.003

CONCLUSION:

• Patients who received point of care cancer history assessment during primary care visits were more likely to complete the risk assessment than patients who received a letter or email asking them to complete the assessment
• Both approaches led to similar rates of genetic testing completion but the email group had a higher rate of pathogenic mutations
• The authors state

Relative to patients in the POC arm, those in the DPE arm who completed screening were more likely to have a personal history of cancer and 2 or more first-degree relatives with cancer, resulting in a higher proportion who were eligible for testing

Using a combination of engagement strategies may be the optimal approach for greater reach and impact

Learn More – Primary Sources:

Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical Trial