First fruits: genetic screening.

And when the woman saw that the tree was good for food, and that it was pleasant to the eyes, and a tree to be desired to make one wise, she took of the fruit thereof, and did eat, and gave also unto her husband with her; and he did eat. One of the first fruits of the Human Genome Project will be many new markers for traits and diseases believed to have a genetic base but so far lacking an identified gene (or genes). Most of these markers can be developed into diagnostic tests quite easily, greatly expanding the range of genetic diagnostic options potentially available to individuals for themselves, or as parents and prospective parents. However, the sheer mass of genetic information that may become available, along with the complex patterns of information offered by many of the new markers, has generated concern about the extent and rapidity with which these new markers should move from the laboratory bench into various clinical uses. In particular, critics of modern obstetric practices have taken note of the ways in which increased diagnostic surveillance can change the character and mood of pregnancy, and they have urged special caution about increased prenatal genetic testing. This paper explores these issues and suggests the need for national standards articulating criteria for introducing and funding new genetic tests as a part of normal prenatal care. Genetic Testing in Prenatal Care Having a baby is an exciting and emotionally demanding process for parents. Here is a new life, forged from complex physical and emotional bonds between its parents, and manifesting the powerful and mysterious intertwining of their previously distinct genetic heritages. Whether planned or unanticipated, pregnancy emerges replete with potential: a potential child with an almost infinite range of needs, desires, and attributes. From a parent's perspective, pregnancy is thus filled with both curiosity and concern. What kind of baby will this be? Who will it look like? Will it be a girl or a boy? Will it be healthy? This last question - "Will my baby be healthy?" - helps propel parents into the obstetrician's or midwife's office, as they seek to fulfill their responsibility to protect and promote the well-being of their developing offspring. Joining with the health professional, they construct a history of the developing fetus via a series of physical examinations and selected diagnostic tests. Although few parents realize it, none of these tests, singly or in combination, can prove that the pregnancy is proceeding normally. In fact, even directly examining the baby after birth is not fool-proof against unsuspected conditions. Nonetheless, prenatal and even pre-conceptual screening of various sorts can identify many problems, sometimes at very early stages. Parents and health care professionals have therefore increasingly turned to amniocentesis, ultrasound, alpha-feto-protein assays, and other tests in an attempt to gain information and to detect and treat conditions for which prenatal interventions are available. Genetic screening has until recently played a relatively minor role in this process. Because genetic testing was expensive and time-consuming, and because most detectable conditions were quite rare, specialized testing for inherited disorders (other than chromosomal analysis and the diagnosis of disorders of hemoglobin formation, such as sickle cell disease) has not generally been recommended as a part of normal prenatal care, except in those situations where a family history or a previously affected child indicates an increased risk. However, this aspect of prenatal care may undergo enormous change over the next two decades. The prospect of dozens or even hundreds of relatively inexpensive new genetic diagnostic tests emerging rapidly from the genome project has been held out as likely by both the project's advocates and its opponents. Many of these markers will identify genes related to common illnesses and other traits and conditions that were previously well outside prenatal health professionals' routine range of concern. …