Ethical Issues in Genetic Testing for Cancer Susceptibility

Abstract

The confluence of numerous factors presages the growing role in clinical medicine of genetic testing for inherited cancer susceptibility. Research in molecular genetics is facilitating the localization and sequencing of new cancer susceptibility genes. Critical issues regarding the importance of specific mutations within genes, the penetrance and expressivity of these mutations, the value of medical interventions in reducing cancer risks, and appropriate methods of counseling patients are being addressed in carefully designed studies. At the same time, more efficient technologies for DNA analysis are being developed that will enable these tests to be performed at a more reasonable cost, while yielding a higher percentage of informative results. Recognizing the considerable profit potential of widespread use of tests for inherited cancer susceptibility, aggressive marketing by commercial genetics laboratories is increasing pressure on physicians to apprise their patients of the availability of testing. As more effective interventions are identified for reducing risk and treating disease, managed care organizations, health insurers, and self-insured employers may also encourage testing as a means to control healthcare costs.The capability to perform these tests possesses considerable promise for enhancing the clinical care of patients. If effective preventive measures, surveillance regimens, and/or prophylactic interventions can be devised to reduce the risk of the onset of cancer or facilitate early identification and treatment, genetic testing will enable patients to assume a substantial measure of active control over their inherited cancer risk. At the same time, these developments present perils that may undermine the intended benefits of their clinical application. Uncertainties abound regarding the medical, psychological, familial, and social implications of identifying persons with inherited cancer susceptibility. These uncertainties generate complex questions regarding the contours of our moral obligations in the context of genetic testing. Critical questions arise regarding the moral obligations of healthcare providers, patients, and society.These moral questions can be grouped around the requirements of three basic moral principles. The first is the principle of beneficence.