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In Reply:

Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC

We appreciate the points raised by Palomares et al regarding our study of genetic cancer risk assessment (GCRA) in newly diagnosed breast cancer patients.¹ We agree that GCRA should not unduly delay definitive breast cancer management. In fact, in our study, for the majority of patients who pursued genetic testing, the timing of definitive local treatment was not delayed. It is important to remember that patients often face logistic delays in the scheduling of surgery or when seeking a second opinion, and rapid GCRA may often be provided within that time frame. Furthermore, for some high-risk patients, a short delay within a time frame that is mutually agreed on with their physicians may be beneficial and consistent with their treatment preferences. For example, if a woman knows that she will have bilateral mastectomies (BLM) only if she tests positive for a BRCA1/2 mutation, then a short delay in the scheduling of her surgery or the initiation of radiation therapy may be acceptable. In fact, Stolier et al² recently recommended delaying radiation therapy in high-risk patients who are candidates for breast conservation while they await BRCA1/2 test results. For some patients (eg, those with positive biopsy margins or advanced cancer), even short delays may not be advisable.

We acknowledge, as others have, that delaying decisions about breast cancer treatment may be anxiety provoking for some patients.² For such patients, the optimum opportunity for GCRA may be during adjuvant chemotherapy. However, we do not believe that the offer of GCRA should be deferred until this phase of treatment, as some patients may wish to make their surgical decisions before chemotherapy. For these patients, starting chemotherapy before definitive surgery may be particularly stressful.

Insofar as surgical decision making in patients receiving negative (uninformative) BRCA1/2 results, all patients were given a detailed, individualized interpretation of their test results, including a qualitative assessment of their residual risk of hereditary breast cancer. Options for screening as well as BLM were reviewed in a nondirective fashion. Decisions about BLM were made in the context of personal and family history. As we reported, patients with uninformative results who opted for BLM tended to be those at the highest residual risk (due to the presence of one or more additional risk factors, such as family history of both breast and ovarian cancer, lobular cancer, previous biopsies in contralateral breast).¹ Furthermore, of the patients who proceeded with BLM after receiving negative BRCA1/2 test results, nearly half had made this decision definitively before their initial genetic counseling session. Thus, we disagree with the characterization of these decisions as necessarily being "risk inappropriate." It is true that our genetic counselors and nurse educator often delivered test results via the telephone; however, the content of these disclosures was identical to in-person disclosures. Telephone disclosure was employed to expedite results for patients whose surgery decisions were contingent on their BRCA1/2 result. Physicians were always involved in surgical management decisions, and as reported in our paper, their recommendations were the single strongest predictor of patients' surgical choice.

We agree with Palomares et al that some patients may have obtained rapid GCRA simply because counseling and testing were offered at no cost. Indeed, 23% of patients in our study proceeded with definitive treatment before receiving their test results.¹ We also agree that during the course of the study, physicians may have become more likely to recommend genetic testing to their high-risk patients. Certainly, over the period of the study the high rate of contralateral breast cancer in mutation carriers and the risk-reducing potential of BLM were appreciated and conveyed to patients through genetic counseling. It remains unknown whether rates of BLM have increased in conjunction with secular trends in physician and patient acceptance of this option. Variability has been noted in the rate of BLM in mutation carriers undergoing GCRA, with our study demonstrating a rate of 48% and Weitzel et al³ indicating a rate of 100%. This discrepancy may reflect the low number of carriers in their study, geographical variation, differences in directiveness of genetic counseling, or other factors related to patient decision making.

Finally, we agree that there are currently issues of feasibility associated with rapid GCRA. For most newly diagnosed patients, the standard turnaround time of up to 3 weeks for BRCA1/2 test results should be sufficient. In addition, if research demonstrates patient interest and medical value of rapid GCRA, then rapid GCRA may become more feasible as the waiting time for results may decrease in the face of heightened demand. Furthermore, given the high rate of insurance reimbursement for genetic testing, preauthorization for BRCA1/2 testing is often not required, and when required can usually be obtained quickly. Patients also need to be aware that expedited testing is available (at additional cost), and that Ashkenazi Jewish patients undergoing mutation analysis for the three founder mutations may obtain results in less than 3 weeks. We are now in the process of examining many of these issues in an NIH-funded randomized trial of rapid GCRA versus "usual care" in high-risk newly diagnosed patients.

In order to maximize the window of time that patients have to make informed decisions, high-risk patients should be identified at the time of breast biopsy or as quickly as possible following diagnosis so that GCRA can be rapidly delivered to interested patients. Ongoing research will be vital in developing genetic counseling and testing protocols that are appropriate for newly diagnosed breast cancer patients and which enhance informed patient decision making.

Authors' Disclosures of Potential Conflicts of Interest

The authors indicated no potential conflicts of interest.

REFERENCES

1. Schwartz MD, Lerman C, Brogan B, et al: Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol 22:1823-1829, 2004[Abstract/Free Full Text]

2. Stolier AJ, Fuhrman GM, Mauterer L, et al: Initial experience with surgical treatment planning in the newly diagnosed breast cancer patient at high risk for BRCA-1 or BRCA-2 mutation. Breast J 10:475-480, 2004[CrossRef][Medline]

3. Weitzel JN, McCaffrey SM, Nedelcu R, et al: Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg 138:1323-1328, 2003[Abstract/Free Full Text]

Related Correspondence

• Genetic Cancer Risk Assessment in the Newly Diagnosed Breast Cancer Patient Is Useful and Possible in Practice
  Melanie R. Palomares, Benjamin Paz, and Jeffrey N. Weitzel
  JCO 2005 23: 3165-3166 [Full Text]

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