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The Effectiveness of Family History Questionnaires in Cancer Genetic Counseling

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

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.

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Acknowledgments

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

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Authors and Affiliations

  1. The Familial Breast and Ovarian Cancer Clinic, Princess Margaret Hospital, 610 University Ave, M704, Toronto, ON, M5G 2M9, Canada

    Susan Randall Armel, Jeanna McCuaig, Amy Finch, Rochelle Demsky, Joan Murphy & Barry Rosen

  2. Department of Biostatistics, Princess Margaret Hospital, 610 University Ave, Toronto, ON, M5G 2M9, Canada

    Tony Panzarella

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  1. Susan Randall Armel
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  2. Jeanna McCuaig
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  3. Amy Finch
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  4. Rochelle Demsky
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  5. Tony Panzarella
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  6. Joan Murphy
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  7. Barry Rosen
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Corresponding author

Correspondence to Susan Randall Armel.

Appendices

Appendix I: BRCA1/BRCA2 Genetic Testing Criteria in the Province of Ontario

Testing for affected individuals with breast or ovarian cancer

At least one case of cancer:

  1. 1.

    Ashkenazi Jewish and breast cancer <50 years, or ovarian cancer at any age. Note: testing limited to ethnic specific mutations, unless other criteria given in this list are met.

  2. 2.

    Breast cancer <35 years of age.

  3. 3.

    Male breast cancer.

  4. 4.

    Invasive serous ovarian cancer at any age.

At least two cases of cancer on the same side of the family:

  1. 5.

    Breast cancer <60 years, and a first or second-degree relative with ovarian cancer or male breast cancer.

  2. 6.

    Breast and ovarian cancer in the same individual, or bilateral breast cancer with the first case <50 years.

  3. 7.

    Two cases of breast cancer, both <50 years, in first or second-degree relatives.

  4. 8.

    Two cases of ovarian cancer, any age, in first or second-degree relatives.

  5. 9.

    Ashkenazi Jewish and breast cancer at any age, and any family history of breast or ovarian cancer. Note: testing limited to ethnic specific mutations, unless other criteria given in this list are met.

At least three cases of cancer on the same side of the family:

  1. 10.

    Three or more cases of breast or ovarian cancer at any age.

Testing for unaffected individuals (this should be done only if affected individuals are unavailable e.g. deceased)

  1. 11.

    Relative of individual with known BRCA1 or BRCA2 mutation. Note: specific family mutation only tested.

  2. 12.

    Ashkenazi Jewish and first or second-degree relative of individual with: breast cancer <50 years, or ovarian cancer at any age, or male breast cancer, or breast cancer at any age, with positive family history of breast or ovarian cancer. Note: testing limited to ethnic specific mutations, unless other criteria are met.

  3. 13.

    A pedigree strongly suggestive of hereditary breast/ovarian cancer, i.e. risk of carrying a mutation for the individual being tested is >10%.

Appendix II: Revised Family History Questionaire

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Randall Armel, S., McCuaig, J., Finch, A. et al. The Effectiveness of Family History Questionnaires in Cancer Genetic Counseling. J Genet Counsel 18, 366–378 (2009). https://doi.org/10.1007/s10897-009-9228-x

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  • DOI: https://doi.org/10.1007/s10897-009-9228-x

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