Unanswered Ethical Questions Forestall Genetic Testing

In the year or so since medical geneticist Francis Collins of the University of Michigan Medical Center, molecular biologist Lap-Chee Tsui of Toronto's Hospital for Sick Children, and their colleagues identified the cystic fibrosis (CF) gene, medical researchers, bioethicists, genetic counselors, and others have debated the pros and cons of testing for the recessive genetic disease. One of the chief arguments advanced by those against such screening is that currently available tests can identi

Julia King
Jan 20, 1991
In the year or so since medical geneticist Francis Collins of the University of Michigan Medical Center, molecular biologist Lap-Chee Tsui of Toronto's Hospital for Sick Children, and their colleagues identified the cystic fibrosis (CF) gene, medical researchers, bioethicists, genetic counselors, and others have debated the pros and cons of testing for the recessive genetic disease.

One of the chief arguments advanced by those against such screening is that currently available tests can identify primarily those with the most common CF mutation--the F508 mutation, which the Cystic Fibrosis Foundation estimates accounts for about 70 percent of all CF carriers. They can also identify a handful of other, far less common mutations, occurring in the rest of CF carriers. Because tests can't identify 100 percent of all CF mutations, the tests may do more harm than good, opponents say. For example, at 80 percent sensitivity, the tests will identify perhaps 64...

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