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Journal of Clinical Oncology, Vol 25, No 7 (March 1), 2007: pp. 911-a-912 © 2007 American Society of Clinical Oncology. DOI: 10.1200/JCO.2006.09.7618
Genetic Counseling About Reproductive Options for Hereditary Cancer: What Is the Standard of Care?Georgetown University, Lombardi Comprehensive Cancer Center, Department of Oncology, Washington, DC To the Editor: Dr Offit and colleagues raise many provocative issues in their article "Cancer Genetic Testing and Assisted Reproduction."1 Although we strongly concur that continued public discourse and the development of guidelines are needed to inform clinical practice, we wish to underscore our opinion that, at the current time, routine discussions by health care providers about prenatal and preimplantation genetic diagnosis (PGD) for hereditary cancer are not appropriate. There are still many scientific, ethical, and logistical questions that need to be addressed, particularly regarding PGD. Nevertheless, their article mentions the prospect of liability should specific reproductive options not be presented to patients,1 which in turn raises the complex question as to what the standard of care is and how it is derived. We would like to take this opportunity to suggest that the standard of care in this arena is evolving and that the threat of litigation should not drive clinical practice. In the United States, like many countries, the use and application of PGD is largely self-regulated.2,3 However, continued collection of data about the safety, efficacy, and long-term outcomes of PGD would be helpful for the development of professional guidelines and standards.2 For example, the European Society of Human Reproduction and Embryology recently published best practice guidelines for PGD outlining recommendations for scientific protocols in addition to general recommendations about indications for this procedure (for example, vaguely, for genetic conditions resulting in serious health problems) as well as guidelines for counseling (genetic and psychological) and informed consent.4 The science of PGD is progressing rapidly, and like all genetic technology and research, we must make our best effort to translate these advances appropriately and responsibly. For example, subsequent to the cloning of major cancer susceptibility genes, extensive educational materials and position statements have been developed to assist providers with the recognition and management of hereditary cancer syndromes. Such documents also outline indications for genetic testing, including testing in adolescents as well as the content of cancer genetic counseling and informed consent.5,6 The importance of ensuring patient autonomy by facilitating informed decisions is central to the process of genetic counseling and testing. Informed decisions are made through a complex process of assimilating knowledge, values, and preferences. In addition, it is important that providers remain value-neutral when presenting options about decisions that are highly individualized, such as whether or not to undergo prophylactic mastectomy or to pursue specific reproductive options. Therefore, clinicians may wish to consider incorporating a discussion about reproductive plans into pre- and post-test genetic counseling, eliciting the patient’s values and preferences, as well as their short- and long-term goals. To impose on every individual a discussion of reproductive choices that are geared toward the nonselection of affected fetuses or embryos is not value-neutral. Moreover, PGD is not accessible to individuals with limited financial means. Therefore, for high-risk individuals who cannot avail themselves of basic medical care after the receipt of a positive test result (for example, mammography or clinical breast exams), a discussion of reproductive plans that is not tailored with this is mind would likely be to no avail. Most of the demand for cancer susceptibility testing is for hereditary breast/ovarian cancer attributable to BRCA1 and BRCA2 mutations. Given the very high risks of breast and ovarian cancer in carriers and no foolproof means of cancer prevention, it is not surprising that some carriers would want to avoid this legacy. Indeed, the recent story of Penny Quinn, an Australian BRCA1 carrier who successfully utilized PGD, is compelling.7 But a decision like the one she and her husband made is not always clear cut. Some individuals may already be overwhelmed during the process of genetic counseling as they consider the implications of managing increased cancer risks for themselves or their relatives. Furthermore, our experience with newly diagnosed breast cancer patients, who frequently have fertility concerns because of impending chemotherapy, has shown that while genetic counseling and testing may facilitate surgical decision making,8 information provided in this context already needs to be very tailored so as not to inundate these patients during an already emotional and stressful time. In addition, young BRCA1/2 carriers, especially those who have had a diagnosis of breast cancer, face a range of fertility concerns, and there are unanswered questions about the impact of ovarian stimulation on cancer risks in carriers as well as the psychological effects of failed in vitro attempts. Finally, for individuals interested in PGD for example, a comprehensive discussion needs to occur regarding the potential for misdiagnosis, the option of confirmatory prenatal testing, and the associated implications of these decisions. Aside from these practical considerations, the ethical quandaries about how to ensure fair access to reproductive technologies and the downstream slippery slope implications remain unresolved. There is no consensus, and there likely never will be, about whether it is ethical to screen embryos or fetuses for hereditary cancer predisposition, particularly those conditions of adult onset with effective means of early detection and/or risk reduction. However, we believe that the process of public discourse9 and open forums of discussion will continue to foster a climate that encourages individual patient autonomy and a socially conscious environment that embraces our differences and challenges. Thus, we encourage continued collaboration among providers who care for individuals at risk for hereditary cancer in order to stay current about recent developments and to provide state-of-the-art genetic counseling. We also support the development of guidelines that preserve the welfare and autonomy of patients and their families, as well as efforts to expand the accessibility of genetic counseling for hereditary cancer risk, cancer screening and prevention, and reproductive technologies. AUTHORS’ DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST The authors indicated no potential conflicts of interest. REFERENCES
1. Offit K, Kohut K, Clagett B, et al: Cancer genetic testing and assisted reproduction. J Clin Oncol 24:4775-4782, 2006 2. Baruch S, Kaufman D, Hudson KL: Genetic testing of embryos: Practices and perspectives of U.S. IVF clinics. Fertil Steril [E-Pub: September 19, 2006] 3. Simpson JL, Rebar RW, Carson SA: Professional self-regulation for preimplantation genetic diagnosis: Experience of the American Society for Reproductive Medicine and other professional societies. Fertil Steril 85:1653-1660, 2006[CrossRef][Medline] 4. Thornhill AR, DeDie-Smulders CE, Geraedts JP, et al: ESHRE PGD Consortium best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 20:35-48, 2005 5. Trepanier A, Ahrens M, McKinnon W, et al: Genetic cancer risk assessment and counseling: Recommendations of the national society of genetic counselors. J Genet Counsel 13:83-114, 2004[CrossRef][Medline] 6. American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol 2003;21:2397-2406 7. Robotham J. How breast cancer inheritance was halted. The Sydney Morning Herald. October 26, 2006. http://www.smh.com.au/articles/2006/10/22/1161455611125.html 8. 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 9. Genetics and Public Policy Center: Reproductive genetic testing: What America thinks. 2004. http://www.dnapolicy.org/images/reportpdfs/ReproGenTestAmericaThinks.pdf Related Article
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Copyright © 2007 by the American Society of Clinical Oncology, Online ISSN: 1527-7755. Print ISSN: 0732-183X
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