Self‐Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program

Abstract

Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer death; approximately 5–10% of PDAC is hereditary. Self-administered health history questionnaires (HHQs) may provide a low-cost method to detail family history (FH) of malignancy. Pancreas Center patients were asked to enroll in a registry; 149 with PDAC completed a HHQ which included FH data. Patients with FH of PDAC, or concern for inherited PDAC syndrome, were separately evaluated in a Prevention Program and additionally met with a genetic counselor (GC) to assess PDAC risk (n=61). FH obtained through GC and HHQ were compared using Wilcoxon signed-rank sum and generalized linear mixed models with Poisson distribution. Agreement between GC and HHQ risk-assessment was assessed using kappa (κ) statistic. In the Prevention Program, HHQ was as precise in detecting FH of cancer as the GC (all p>0.05). GC and HHQ demonstrated substantial agreement in risk-stratification of the Prevention Program cohort (κ = 0.73, 95% CI 0.59–0.87.) The sensitivity of the HHQ to detect a patient at elevated risk (i.e., moderate- or high-risk) of PDAC, compared to GC, was 82.9% (95% CI 67.3%–92.3%) with a specificity of 95% (95% CI 73.1%–99.7%). However, seven patients who were classified as average-risk by the HHQ were found to be at an elevated-risk of PDAC by the GC. In the PDAC cohort, 30/149 (20.1%) reported at least one first-degree relative (FDR) with PDAC. The limited sensitivity of the HHQ to detect patients at elevated risk of PDAC in the Prevention Program cohort suggests that a GC adds value in risk-assessment in this population. The HHQ may offer an opportunity to identify high-risk patients in a PDAC population.

Patient outcomes of genetic counseling: Assessing the impact of different approaches to family history collection

“…Studies of different approaches to family history collection (eg, questionnaires, preappointment phone calls, computer‐based family history collection tools, and virtual genetic counselors) have assessed: accuracy of information collected, accuracy with which individuals at increased risk of a condition can be identified and feasibility of implementing such a tool in a clinical setting . These studies have focused on the medical utility of family history, and although some have investigated patient satisfaction and/or ease of use, none (that we were able to identify) have yet investigated the effects of different approaches to family history collection on patient outcomes of genetic counseling.…”

Identification of individuals at high-risk for pancreatic cancer using a digital patient-input tool combining family cancer history screening and new-onset diabetes

“…Stratification of high-risk individuals would ensure that surveillance is offered to those who could benefit the most, while minimizing potential harms of screening ( Klatte et al, 2022b ). Capturing family cancer history offers a simple and cost-effective way to identify individuals at increased risk for pancreatic cancer and hereditary cancers in general ( Lucas et al, 2017 , Valdez et al, 2010 , Wang et al, 2007 ). Darabi et al ( Darabi et al, 2020 ) demonstrated that in a community setting, involving patients with a personal and/or family history of cancer (n = 8,239), genetic counseling and subsequent germline mutation testing resulted in identification of pathogenic or likely pathogenic variants in 15 %.…”

Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record

“…1,2 Recognizing individuals with higher familial risk can help prevent or detect cancer earlier and reduce cancer morbidity and mortality. [3][4][5][6] "High risk" individuals may benefit from individualized care ranging from enhanced cancer education to earlier cancer surveillance, and in some cases, chemoprevention or prophylactic surgery. [7][8][9] In primary care settings, there are several barriers to collecting family health history.…”