The routinization of prenatal testing.

The technology was available, so why not use it? - Words of an expectant father By now everyone is familiar with the recent accomplishments of the Human Genome Project. Accomplished in ten, rather than the initially expected fifteen, years, the human genome has been fully sequenced. Genetics is in its golden age. A product of the technology era, genetics has, in a short time, offered vast amounts of information. This increased knowledge promises potential benefits for our understanding of the disease process and, ultimately, treatment and prevention. The rapid flow of information, however, presents complications and challenges. It can complicate the decision making process for those involved in genetic testing, not only because our knowledge of genetics is more complex, but because there is so much more potential information to obtain. The sheer quantity of information for both researcher, clinician and especially patient, can be overwhelming. In addition, our ability to glean predictive or susceptibility information has vastly exceeded our ability to develop cures for diseases; patients can increasingly identify risks for conditions that they can do little to avoid. The expansion of genetic information has created a new class of genetics patients: the adult at risk for late-onset conditions. Once a field devoted primarily to expectant or future parents, genetic counseling increasingly includes adult genetics. With this growing area have come concerns about the costs of getting genetic information. A woman might learn that she has the BRCA1 gene, but data are still uncertain about precisely what this means in terms of her risk of breast or ovarian cancer and what she can do to reduce her risk. People with a family history of Huntington Disease (HD) may choose to find out whether they have the gene that virtually guarantees they will develop the disease, if they live long enough. But it is currently impossible to predict the age of onset and no cure or prevention is available. As a result, anxiety and distress can be associated with finding out one does or does not have a late-onset gene.1 Geneticists and ethicists have therefore urged caution and care in the decision making process. More importantly, many have suggested that knowledge may not always benefit everyone. For some, it can be "toxic." The circumspection regarding knowledge and genetic testing in the context of adult genetics applies equally well in the reproductive context. Yet, the same level of restraint and caution does not exist. Instead, prenatal genetic testing and screening has become de rigeur; nearly as commonplace and widely accepted as some of the more routine aspects of prenatal care. The routinization of prenatal testing2 has impoverished the informed consent process in many ways; little emphasis is placed on the many emotional and psychological ramifications of undergoing such testing, leaving patients unprepared for certain choices and emotional reactions. This Article argues that the same concerns about informed decision making with respect to genetic testing for late-onset conditions apply to prenatal testing. Part I outlines the history and evolution of genetic testing. It explores some of the issues that arise with genetic testing for late-onset conditions (late-onset testing) and reviews recommendations that have been made to address these concerns. Part II describes the routinization of prenatal testing and screening and the role that healthcare professionals, patients, society and the legal profession have played in this process. Part III then describes the implications of this routinization and the ways in which it has impoverished the informed consent process. While caution has been exercised to address the psychosocial risks associated with late-onset testing, the field of reproductive genetics today increasingly minimizes the psychosocial risks of prenatal testing. Therefore, patients are often uninformed about the implications of undergoing such testing, which can result in anxiety or decisions inconsistent with their values or preferences. …