Hereditary cancers occur as a result of inherited genetic dispositions passed from parent to child. About 10% of cancer diagnoses qualify as hereditary cancer. Luckily, we have many testing strategies to identify patients with specific genes that increase cancer risk. Early identification allows for personalized screening strategies that can increase the chances of early-stage diagnosis. This underscores the importance of work in identifying high-risk patients early, which could significantly impact long-term survivorship. However, the wide use of commercially available genetic screening tests remains challenging.
A new study published in JAMA Network Open compared two population-based strategies for offering genetic testing for cancer susceptibility to patients with a personal or family history of cancer. The researchers developed a comprehensive risk assessment questionnaire to assess a patient’s personal and family history of cancer, including first-degree (biological parents, siblings, children) and second-degree (biological grandparents, aunts/uncles, and nieces/nephews) relatives.
The clinical trial, referred to as EDGE (Early Detection of Genetic Risk), carried out by researchers at the University of Washington School of Medicine, included 12 primary care clinics located in Montana, Wyoming, and Washington. The researchers randomized the clinics into two engagement approaches for assessing hereditary cancer risk. The study included nearly 100,000 patients aged 25 or older who had a primary care visit during one year.
The first approach, called point of care (POC), involved inviting patients to fill out questionnaires before their primary care visit. Alternatively, other clinics employed the direct patient engagement (DPE) approach where doctors sent letters or emails to patients asking them to fill out the questionnaire at home. The researchers offered patients who completed the surveys and met the criteria for high-risk hereditary cancer a saliva test kit that screens for 29 genes. If requested, the research team mailed screening kits to a patient's home free of cost. During the study, 18.030 patients received POC questionaries, and 41,558 received mailed or emailed questionaries via the DPE approach.
Of the 95,623 patients completing a primary care visit during the one-year study period, 13,705 completed the risk assessment questionnaire. More than half (64.7%) of the patients were female, and most (39.6%) were 65 to 86 years old.
A higher proportion of patients seen at a POC clinic competed with the risk assessment questionnaire (19.1% versus 8.7%). However, of the patients identified for genetic screening, testing completion rates appeared similar between groups. Among the patients eligible for genetic testing, the DPE (44.7%) test completion rate was nearly double the POC (24.7%) test completion rate. The study also identified that patients visiting a POC clinic had a slightly lower proportion of identifying a pathogenic variant, a genetic mutation that is likely to cause a disease, upon screening than those visiting a DPE clinic.
The results of the study demonstrate that POC engagement resulted in a higher completion of risk assessment questionnaires than DPE. This finding holds promise for improving patient care. The study also shows that both approaches garnered a similar rate of completing genetic testing, indicating that either approach, or a combination of the two, could be beneficial in a clinical setting.
Sources: Ann Oncol, JAMA Netw Open
