Description

Seeking to learn what the future holds is an enduring human quality. What will happen? When will it happen? How will it happen? People have always pondered such questions about their health and that of their families. Folk ways once enjoyed wide favor in medicine, but over the years technology has increasingly eclipsed such methods of divination. Today, medical technology includes genetic tools that can deliver predictive information with ever-increasing accuracy. This report is about one of those tools: a test that can tell people about their potential to pass to their offspring a genetic condition called cystic fibrosis (CF). Some people want and seek this information; others do not.

CF is the most common, life-shortening, recessive disorder affecting Caucasians of European descent. Between 1,700 and 2,000 babies with CF are born annually in the United States. As in many genetic conditions, the diagnosis of an infant with CF often reveals the first clue that the genetic trait exists in the family. In fact, four of five individuals with CF are born to families with no previous history of the illness. In such cases, the parents-as well as their siblings, parents, and other relatives--do not have CF. These individuals, referred to as CF carriers, have no symptoms of CF and might not even have heard of the condition. In 1989, scientists identified the most common change, or mutation, in the genetic material, deoxyribonucleic acid (DNA), that causes CF. Hard on the heels of this discovery, scientists developed tests to detect mutations in the area of DNA—the CF gene—that is responsible for the disease. This report focuses on using these DNA tests to screen and identify CF carriers before they have a child with CF. Beyond the approximately 30,000 Americans who have CF, as many as 8 million individuals could be CF carriers. The report concentrates on these millions of CF carriers, who are, today, largely unidentified.