Reply to A.S. Sie et al, K. Hemminki et al, and J. Larsen Haidle
Authors: Marie E. Wood, Karen H. Lu, Dana S. Wollins, Kevin S. Hughes
Journal: Journal of Clinical Oncology (2014)

We agree with Hemminki et al 1 that family history information can be used to identify individuals at both hereditary and familial cancer risk.We also agree that, in general, the percentage of any cancer type attributed to a familial form of cancer will be greater than the percentage that is likely hereditary.Hemminki et al point out that genetic testing is not yet available for those at familial risk.However, those at familial risk should have modified screening and management based on their family history, and referral for a genetic risk assessment would outline those recommendations (Table 5 in Lu et al). 2 We did not address all of the indications for increased screening based on family history as Hemminki et al point out.To do so would have been beyond the scope of our statement.We share their concern over the implications for patients if genetic testing indications are relaxed.However our statement was targeted toward patients with cancer.Given increasing data regarding the high prevalence of germline mutations among specific cancer types [3][4][5][6] and the prior American Society of Clinical Oncology statements (supporting genetic testing when it will change management), 7 we felt that a focus on tumors with significant risk of germline mutations (Table 2 in Lu et al 2 ) was warranted.We do apologize for using the cliche ´statement "Approximately 5% to 10% of cancer is attributable to a hereditary cancer predisposition syndrome." 2(p833) Our goal was to highlight the significant proportion of patients with cancer with hereditary cancer and that taking a family history is one of the first steps toward identifying those individuals.Sie et al 8 commented on both the expert statement 2 and its accompanying article in Journal of Clinical Oncology. 9We agree that a significant barrier to use of family history is interpretation of the information gathered in the family history.Decision support tools are likely to aid significantly in this task and we applaud the authors for designing a tool to identify candidates for genetic counseling for hereditary colorectal cancer.Your support tool will add to the growing number of tools/models designed to assist in identifying the most appropriate candidates for genetic testing (Table 3 of Lu et al 1 ).We agree with Larsen Haidle 10 of the National Society of Genetic Counselors that the key elements we have suggested (Table 1 in Lu et al 2 ) is the minimum family history that should be obtained.This family history is meant to enable a preliminary risk assessment by all oncology professionals.We have highlighted the importance of obtaining both maternal and paternal family history and referral for individuals with specific tumor types.As highlighted in the accompanying article, 9 oncologists are not always obtaining this minimum family history; setting a minimum standard will ensure that greater numbers of patients actually do get referred (although we will miss some).We appreciate the inclusion of a list of genetic counselors, and we have included similar information in Appendix Table A1 of Lu et al. 2