better treatment. For example, when phenylketonuria (an autosomal recessive disorder that can cause mental retardation) is identified in infants, the administration of a special diet can prevent mental retardation. Because of this obvious benefit and the low cost of testing for this disorder, all states in the United States and many other countries require new-borns to be tested for PKU.
Predictive testing for colorectal cancer and breast cancer also may be beneficial for at-risk people, because finding these cancers early improves the chances for successful treatment. Patients with genes that predispose to cancer may require more aggressive treatment than do patients with sporadically arising cancers. In these diseases, genetic testing provides clear benefits.
Another set of concerns are related to the accuracy of genetic tests. For many genetic diseases, the only predictive tests available are those that identify a predisposing mutation in DNA, but many genetic diseases may be caused by dozens or hundreds of different mutations. Probes that detect common mutations can be developed, but they won't detect rare mutations and will give a false negative result. Short of sequencing the entire gene —which is expensive and time consuming—there is no way to identify all predisposed persons. These questions and concerns are currently the focus of intense debate by ethicists, physicians, scientists, and patients.
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