Ann Intern Med -- Rapid Responses for Nelson et al., 143 (5) 362-379

Established in 1927 by the American College of Physicians

Rapid Responses to:

Clinical Guidelines:
Heidi D. Nelson, Laurie Hoyt Huffman, Rongwei Fu, and Emily L. Harris
Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force
Ann Intern Med 2005; 143: 362-379 [Abstract] [Full text] [PDF]

Send comment/rapid response letter

Electronic letters published:

A response from the editors: Editors at Annals (16 December 2005)

Response to Annals Patient Summary on BRCA Genetic Risk Assessment: Kelly E. Ormond, Cecelia Bellcross, MS,CGC and Scott Weissman, MS,CGC, Co-Chairs, National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group (14 December 2005)

Equity, Discrimination and Culture: Francois Eisinger, Doug Horsman (5 October 2005)

A response from the editors 16 December 2005

Editors at Annals
Annals of Internal Medicine
Send rapid response to journal:
Re: A response from the editors

chrisl{at}acponline.org Editors at Annals

The Editors appreciate The National Society of Genetic Counselors (NSGC) Familial Cancer Risk Counseling Special Interest Group's comments, but we respectfully disagree that a revision of the patient summary accompanying the USPSTF recommendation is warranted. The intent of the summary is to reflect the content of the recommendation statement. The NSGC's first and fourth comments pertain to genetic counseling of men and counseling of women with a personal history of breast or ovarian cancer. These issues are beyond the scope of the USPSTF recommendation. While the NSGC believes that the summary is misleading with respect to the potential harms of screening, the editors believe that the summary is accurate when it states, "...since not all women who have a BRCA mutation develop cancer, identification of mutations may also needlessly expose women to anxiety, insurance problems, or unnecessary procedures." With respect to the third comment, the summary as currently written does use "or" not "and" to describe the characteristics of high risk women of Ashkenazi Jewish heritage.
The Editors
Conflict of Interest:
None declared

Response to Annals Patient Summary on BRCA Genetic Risk Assessment 14 December 2005

Kelly E. Ormond,
MS, CGC
Northwestern University and Immediate Past President of the National Society of Genetic Counselors,
Cecelia Bellcross, MS,CGC and Scott Weissman, MS,CGC, Co-Chairs, National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group
Send rapid response to journal:
Re: Response to Annals Patient Summary on BRCA Genetic Risk Assessment

k-ormond{at}northwestern.edu Kelly E. Ormond, et al.

The National Society of Genetic Counselors (NSGC) Familial Cancer Risk Counseling Special Interest Group has reviewed the USPSTF recommendations1 regarding BRCA genetic risk assessment and commends the Annals efforts to create a patient summary on this topic. The NSGC would like to emphasize that the USPSTF recommendations highlight the importance of genetic counseling to the risk assessment process, and that genetic counseling facilitates informed decision-making about genetic testing and management, and in and of itself has not been associated with increased anxiety or other adverse outcomes. Cancer genetic professionals include genetic counselors, medical geneticists, and advanced practice oncology nurses with special training in genetics. These individuals can be located via the NCI website (www.cancer.gov/search/geneticsservices/ ) or the NSGC website (www.nsgc.org).
The following are key points that we feel are either omitted or misleading in the summary2 as written when compared to the published USPSTF guidelines:
1) Although the Task Force did not address genetic counseling and testing for men, they discuss the importance of recognizing cases of male breast cancer and therefore the inclusion of male relatives such as brothers, fathers, grandfathers, and nephews in any family history is necessary.
2) The patient summary implies a substantial likelihood of anxiety, insurance problems or unnecessary procedures, none of which have been found in actual practice.
3) The definition of high risk women of Ashkenazi (Eastern European) Jewish heritage should be stated. ��. these include any first-degree relative with breast or ovarian cancer at any age OR (not and) at least 2 second degree relatives on the same side of the family with breast or ovarian cancer at any age.�
4) While the USPTF recommendations were directed towards a population without breast or ovarian cancer, it is very important that women affected with these cancers, especially those with a known family member with a BRCA mutation, be provided access to cancer genetic risk assessment and counseling. Such individuals stand to potentially benefit to an even greater extent from genetic risk assessment and BRCA testing.
Finally, we strongly encourage the Annals to consider developing an alternative version of the patient summary incorporating these concerns in collaboration with recognized leaders in the field of cancer genetics.
1. U.S. Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Annals of Internal Medicine. 143(5):355-61, 2005 Sep 6.
2. Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: U.S. Preventive Services Task Force Recommendations. Annals of Internal Medicine. 143 (5): I-47. 2005 Sept 6.
Conflict of Interest:
None declared

Equity, Discrimination and Culture 5 October 2005

Francois Eisinger,
MD
Paoli Calmettes Institute & BC Cancer Agency,
Doug Horsman
Send rapid response to journal:
Re: Equity, Discrimination and Culture

eisinger{at}marseille.inserm.fr Francois Eisinger, et al.

As usual the USPSTF carried out an outstanding and comprehensive assessment of health services(1). However we would like to express three concerns:
First, should the test really be offered only to women whose family history is associated with an increase risk for deleterious mutations in BRCA1 or BRCA2? We claim that whatever criteria, individual or familial, giving us a clue that a women is at risk of being a gene carrier, every women with the same level of risk should be treated in the same way (offered or not offered a test), it�s matter of equity. The familial history may be inaccurate with regard to pathological confirmation. Small pedigrees may also downgrade the predictive value of familial history, due to the low birth rate in western countries, many women (above 10%) may experience having her mother as the only female member of first and second degree relatives old enough to be affected with a breast cancer. For all these reasons, using individual characteristics leading to a high probability of being a gene carrier such as age at onset, pathological findings(2), combination of age and pathological findings, or gene profiling of the tumors may be useful. Some of them might not yet reach the level of confidence required by the USPSTF, but some do (a single case before the age of 30).
The second point is about discrimination: �social consequences, such as insurance and employment discrimination; these issues should be discussed�. The Annals of Internal Medicine is amongst the most prestigious quoted and read International Journal. US scientists are obviously providers of �good� science that deserves wide diffusion. The editors should, however, be cautious about a kind of Trojan horse phenomena with culture and social values conveyed hidden within science. Genetic-based health insurance discrimination is a threat in countries in which premiums are risk-based (like in the US), but not in other countries in which �premiums� are income-based.
Lastly we question the relevance of breast self-examination (not clinical breast examination that is useful) that was mentioned in the table 1 �Prevention and Detection recommendations� with a monthly rate beginning by age 18�21 years, despite evidence about the lack of efficacy in general population, evidence of harm(3) in high risk population and recommendations against(4). Despite the fact that USPSTF uses stringent criteria to make their recommendations, cultural factors may still be at work(5).
1. Nelson HD, Huffman LH, Fu R, Harris EL. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med 2005;143(5):362-79.
2. Eisinger F, Jacquemier J, Charpin C, et al. Mutations at BRCA1 : The Medullary Breast Carcinoma Revisited. Cancer Res 1998;58:1588-92.
3. van Dooren S, Rijnsburger AJ, Seynaeve C, et al. Psychological distress and breast self-examination frequency in women at increased risk for hereditary or familial breast cancer. Community Genet 2003;6(4):235- 41.
4. Kosters JP, Gotzsche PC. Regular self-examination or clinical examination for early detection of breast cancer. Cochrane Database Syst Rev 2003(2):CD003373.
5. Eisinger F, Geller G, Burke W, Holtzman N. Cultural Basis for Differences Between US and French Clinical Recommendations for Women at Increased Risk of Breast and Ovarian Cancer. Lancet 1999;353:919-20.
Conflict of Interest:
None declared