Journal of Genetic Counseling

, Volume 18, Issue 4, pp 366–378 | Cite as

The Effectiveness of Family History Questionnaires in Cancer Genetic Counseling

  • Susan Randall ArmelEmail author
  • Jeanna McCuaig
  • Amy Finch
  • Rochelle Demsky
  • Tony Panzarella
  • Joan Murphy
  • Barry Rosen
Original Research


The number of individuals receiving genetic counseling for hereditary breast and ovarian cancer syndrome has steadily risen. To triage patients for genetic counseling and to help reduce the amount of time needed by a genetic counselor in direct patient contact, many clinics have implemented the use of family history questionnaires. Although such questionnaires are widely used, scant literature exists evaluating their effectiveness. This article explores the extent to which family history questionnaires are being used in Ontario and addresses the utility of such questionnaires in one familial cancer clinic. By comparing the pedigrees created from questionnaires to those updated during genetic counseling, the accuracy and effectiveness of the questionnaires was explored. Of 121 families recruited into the study, 12% acquired changes to their pedigree that led to a revised probability estimate for having a BRCA1 or BRCA2 mutation and 5% acquired changes that altered their eligibility for genetic testing. No statistically significant difference existed between the eligibility for genetic testing prior to and post counseling. This suggests that family history questionnaires can be effective at obtaining a family history and accurately assessing eligibility for genetic testing. Based on the variables that were significantly associated with a change in probability estimate, we further present recommendations for improving the clarity of such questionnaires and therefore the ease of use by patients.


Genetic counseling Family history Hereditary breast and ovarian cancer Probability estimate 



The authors wish to acknowledge Kara Hitchman for her excellent comments and contributions to reviewing the manuscript.


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Copyright information

© National Society of Genetic Counselors, Inc. 2009

Authors and Affiliations

  • Susan Randall Armel
    • 1
    Email author
  • Jeanna McCuaig
    • 1
  • Amy Finch
    • 1
  • Rochelle Demsky
    • 1
  • Tony Panzarella
    • 2
  • Joan Murphy
    • 1
  • Barry Rosen
    • 1
  1. 1.The Familial Breast and Ovarian Cancer ClinicPrincess Margaret HospitalTorontoCanada
  2. 2.Department of BiostatisticsPrincess Margaret HospitalTorontoCanada

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