A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study

Margot M. Koeneman*, Arnold-Jan Kruse, Simone J. S. Sep, Cynthia S. Gubbels, Brigitte F. M. Slangen, Toon van Gorp, Alberto Lopes, Encarna Gomez-Garcia, Roy F. P. M. Kruitwagen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Pilot study to evaluate whether the use of a standardized questionnaire to document family history of cancer improves identification of women who warrant referral to cancer genetic services (CGS) for increased risk of hereditary cancer, compared to their identification in usual care. Prospective intervention study with historic control group. Gynecology outpatient clinic, Maastricht University Medical Centre, the Netherlands. The prospective intervention group consisted of new outpatients between June 1 and August 1, 2011. The historic control group consisted of new outpatients between May 1, 2009 and April 30, 2010. A standardized questionnaire based on established referral criteria for hereditary breast/ovarian cancer and Lynch syndrome was completed for the intervention group. The referral rate in routine consultation, based on non-standardized family history recording, was determined retrospectively for the control group. The difference in referral rate between intervention and control group, tested by Chi square test. In the control group, 8 of 3,036 women (0.26 %) were referred to CGS. In the intervention group, 209 (42 %) of 500 screening questionnaires were completed. Nineteen women (9, 1 %) met the referral guidelines, of which 5 were newly referred to CGS (2, 4 %). Referral rates differed significantly (p <0.001) between the two groups. This pilot study shows that the routine use of a screening questionnaire may improve detection and referral rate to CGS of individuals at risk for hereditary cancer. Improving genetic literacy of physicians and use of web-site questionnaires deserve attention in future studies.
Original languageEnglish
Pages (from-to)469-475
JournalFamilial Cancer
Issue number3
Publication statusPublished - Sept 2014


  • Gynae-oncology
  • BRCA 1 genes
  • BRCA 2 genes
  • Hereditary nonpolyposis colorectal neoplasms
  • Pedigree
  • Questionnaires

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