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To Test or Not to Test

Rachel Ankeny

Future Perfect: Confronting Decisions about Genetics. Lori B. Andrews. xiv + 264 pp. Columbia University Press, 2001. $24.95.

Have you or has someone close to you undergone genetic testing? Before quickly answering no, remember that all babies born in the last 35 years or so in most Western countries have had an indirect form of such testing: a neonatal heel prick for metabolic disorders, often done without parental knowledge or understanding.

Against this background, Future Perfect, by Lori B. Andrews, is compelling reading. As she correctly points out, despite much scholarly and popular examination (especially since the Human Genome Project), genetic testing has quietly entered the clinical realm with little consideration of overarching policies and without the regulatory framework that she forcefully argues should be in place before such technologies are made part of standard practice. For those interested in a general overview of the impact of clinical genetic services and their policy implications, Future Perfect will prove very useful.

Andrews's main goal is to compare three conceptual models that could be used to ground genetic policy: the medical model, the public health model and the fundamental rights model. The medical model is most familiar to us; Andrews argues that it is the framework for most genetic testing—at least in the United States, which is the focus of her exploration. This model assumes that people have access to health care resources so long as they (or their insurer) will pay for them and a health care professional, typically a physician, is willing to provide them. The focus is on the physician, who provides information to patients regarding genetic testing when he or she judges that it is relevant. The medical profession provides standards for quality control and informed consent.

In the public health model, which is focused on population-wide prevention (typically of infectious diseases), the state sponsors education and preventive health services, and some interventions (such as vaccines) are mandated. This model is currently used for a number of genetic services, notably screening of newborns for metabolic disorders. It could be argued that the public health model is becoming more prevalent for certain other genetic tests—notably prenatal ones—that societal pressures seem to make "mandated" in an informal sense, as Andrews so accurately describes. Indeed, in terms of the sheer number of genetic tests performed, the public health model may well outstrip the medical model.

Finally, the fundamental rights model typically is used when it is thought to be crucial to ensure that participation in testing is voluntary, when values and beliefs are central to health care choices (most often those involving reproduction), or when groups need protection against discrimination. Since many genetic services are provided as part of reproductive care, this model has been used, but not to the same extent as the other two.

Andrews ultimately argues in favor of the fundamental rights model, following an extended discussion of the impact of genetic services on individuals' lives; the concept of parenthood; issues particular to women, people of color and those with disabilities; and issues relating to employment and other social institutions. These sections provide a thorough and sometimes shocking laundry list of the problems encountered in current genetic testing programs, notably those for Huntington disease, cystic fibrosis and breast cancer. These include disintegrating family and personal relationships, and positive or negative effects on self-image; demands or implicit pressures from employers, insurers and medical professionals (among others) to submit to testing; and public stigmatization of the disabled, particularly those seeking to have children. Cases of covert genetic testing, especially on stored samples, are also documented.

Although much of this information will be familiar to genetic counselors and bioethicists, Andrews provides a readable summary of the issues for nonspecialists. There are 68 pages of end notes, but citations are often limited to her own previous work, making it difficult for those interested in pursuing these topics to find more details on what sometimes seem to be anecdotal, albeit extremely relevant, cases of discrimination and examples of other social effects of genetic testing. It is also difficult to assess their current relevance, as some date back to the earliest days of genetic testing. Because many of these cases have become almost apocryphal within the bioethics community, the original sources that Andrews does provide will be greatly appreciated by many readers.

In the last chapter, Andrews defends the fundamental rights model because of the centrality of genetic information to one's self-concept, identity and life plans. Thus she argues that decisions about whether to obtain such information, and what to do with it, should be deemed "fundamental" in the sense that reproductive rights have been taken to be fundamental. Thus voluntary participation, with more truly informed consent, should be required, along with more thorough quality control; all decisions about genetic testing, including disposition of information and samples, should rest with the individual tested. This model also has the advantage of drawing on existing legal doctrines and regulations in other areas of medical practice, notably reproduction; however, more stringent antidiscrimination laws specifically focused on genetics may be needed.

This closing section of the book is the most intriguing, particularly for bioethicists and those interested in policy. But Andrews's defense of the fundamental rights model as the appropriate framework for genetics is rather thin on legal and moral theory. (She has provided more rigorous discussion in some of her other work, so she is perhaps here anticipating that Future Perfect will have a popular audience.) Genetic counselors may well wonder how this conclusion influences their practices, since they nearly universally have assumed a nondirective ethos, which Andrews only briefly discusses. Hence some may find the book disappointing.

We can only hope that policy makers indeed seek a framework before genetic testing is implemented piecemeal and that we do not repeat the many mistakes of the past.—Rachel A. Ankeny, History and Philosophy of Science, University of Sydney, Australia

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