In 2002, the American Society of Clinical Oncology (ASCO) established the Cancer Prevention Committee (CAPC), which was formed in the hope of ensuring the integration of cancer prevention into oncology practice and research. In 2003, ASCO released a statement reaffirming its commitment to integrating cancer risk assessment and management, including molecular analysis of cancer predisposition genes, into the practice of oncology and preventive medicine. The primary goal of ASCO’s cancer genetics efforts have been to advance research and to expand access to care for individuals affected by hereditary cancer syndromes. ASCO has recommended that genetic testing be offered when 1) an individual has personal or family history features suggestive of a genetic cancer susceptibility condition, 2) the test can be adequately interpreted, and 3) the results will aid in diagnosis or influence the medical or surgical management of the patient or family members at risk for hereditary cancer.
However, the incorporation of genetic testing into cancer prevention has proved problematic, creating ethical barriers to care. One of the most significant barriers to integrating genetic testing into cancer prevention is health professionals’ lack of basic knowledge about genetic testing and their lack of confidence in interpreting familial patterns of disease. The challenge for health care providers is to be able to provide sufficient information to support patient decision making—and evidence to support the reasoning behind any suggestions they might make. Limited knowledge adversely effects meaningful informed consent discussions about genetic testing. Thus, we applaud the effort by Schrader et al to publish educational material concerning genetic testing, so that the medical community can actively work to overcome this barrier.
Another ethical consideration, as mentioned in the Schrader review, is insufficient reimbursement, which creates economic barriers to care. The process of hereditary cancer risk assessment and counseling is time-consuming, and it is not clear how best to document and bill for this service. Oncologists are often forced to navigate a potentially uncertain reimbursement environment for genetic testing, with various reimbursement policies among third-party payers. Furthermore, as genetic testing for cancer susceptibilities increases, a greater number of candidates for prophylactic surgery will be identified; policies to ensure broad insurance coverage for such procedures will be required.
In a survey of genetic service providers, 52% of participants thought genetic testing might adversely impact their patient’s insurability despite the passage of the Genetic Information Nondiscrimination Act (GINA) in 2008. This act was designed to protect individuals from discrimination in health insurance and employment. Many patient advocates are concerned that, under GINA, discriminating against patients and paying fines may cost companies less than paying for the insurance for those with high-risk hereditary cancer syndromes. Thus, there may be a need for additional legislation to protect patients from genetic discrimination and violations of GINA.
In addition, the use of genetic counseling and testing for primary cancer prevention is yet another area of medicine in which disparities may be predicted to increase. Referral for counseling is often initiated by a primary care physician. Thus, typically only patients with access to health care coverage will be able to benefit. The US government has provided certain “safety-net” programs to aid the underserved in accessing genetic counseling and preventive services. However, resources are limited and better definitions are needed concerning the level of evidence required to justify the use of genetic testing and associated interventions under universal access.
Finally, the extent of the clinician’s obligations to family members remains unresolved. The physician is clearly dedicated to protecting the confidentiality of patients, but this obligation may come into conflict with perceived obligations to inform family members at risk if patients refuse to give permission to inform them for whatever reason. Indeed, Lindor et al recently searched legal databases for all federal and state cases involving liability relating to genetic testing. Over 50 cases were identified in which health care providers—mainly physicians—were sued for their negligence in using and applying genetic testing methods. Of these, only three cases related to a hereditary cancer, although the causes of action recognized by the courts in other cases apply to hereditary cancers as well. The authors identified six significant risks associated with genetic testing. They concluded that courts are willing to require the use and understanding of genetic information even before the medical community itself is ready and able to do so. These findings suggest significant and unresolved issues regarding the legal pressures that will inevitably come to shape the environment for clinicians who use or consider genetic testing methods.
In conclusion, genome advances hold the promise of improving the care of at-risk patients and of helping prevent cancer. However, significant improvements must be made in physician education in the area of genetic testing. Federal legislation to protect the patient’s insurability, protect against discrimination, and further delineate the physician’s role in information dissemination would also be valuable.
Financial Disclosure: Dr. Helft serves as a speaker/consultant for Roche/Genentech. Dr. Tenner has no significant financial interest or other relationship with the manufacturers of any products or providers of any service mentioned in this article.