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

  • Original Research
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Journal of Genetic Counseling

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.

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Authors and Affiliations

  1. Henry D. Janowitz Division of Gastroenterology, Samuel Bronfman Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1069, New York, NY, 10029, USA

    Aimee L. Lucas

  2. Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, 10032, USA

    Adam Tarlecki, Kellie Van Beck & Jeanine M. Genkinger

  3. Division of Gastroenterology, Department of Medicine, Columbia University, New York, NY, 10032, USA

    Casey Lipton & Harold Frucht

  4. Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, 10032, USA

    Arindam RoyChoudhury

  5. Cancer Genetics Program, New York Presbyterian Hospital, New York, NY, 10032, USA

    Elana Levinson

  6. National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA

    Sheila Kumar

  7. Division of Molecular Genetics, Department of Pediatrics, Columbia University, New York, NY, 10032, USA

    Wendy K. Chung

  8. Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, 10032, USA

    Wendy K. Chung & Jeanine M. Genkinger

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  1. Aimee L. Lucas
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  2. Adam Tarlecki
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Correspondence to Aimee L. Lucas.

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Statement of Support: Dr. Lucas received support from the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant Number UL1 TR000040 and UL1 TR000067.

Conflict of Interest

Aimee L. Lucas, Adam Tarlecki, Kellie Van Beck, Casey Lipton, Arindam RoyChoudhury, Elana Levinson, Sheila Kumar, Wendy K. Chung, Harold Frucht and Jeanine M. Genkinger declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. The study was approved by the Institutional Review Board of Columbia University.

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No animal studies were carried out by the authors for this article.

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Lucas, A.L., Tarlecki, A., Van Beck, K. et al. Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program. J Genet Counsel 26, 806–813 (2017). https://doi.org/10.1007/s10897-016-0057-4

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