Genetic Counseling: The Human Side of Science

Kelly Taylor Not long ago, a young couple entered Deborah Lochner Doyle's office with a dilemma that most people, thankfully, never have to face. Their 6-year-old child had been born with cystic fibrosis (CF), a common genetic disease that results in chronic lung infections and usually kills by the age of 30. The couple had become pregnant again and had come in to have the fetus tested. Though neither parent had CF, both carried one flawed copy of the cystic fibrosis transmembrane receptor

Written byJames Kling

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Kelly Taylor

Not long ago, a young couple entered Deborah Lochner Doyle's office with a dilemma that most people, thankfully, never have to face. Their 6-year-old child had been born with cystic fibrosis (CF), a common genetic disease that results in chronic lung infections and usually kills by the age of 30.

The couple had become pregnant again and had come in to have the fetus tested. Though neither parent had CF, both carried one flawed copy of the cystic fibrosis transmembrane receptor that causes the disease. If the child inherited two flawed copies--one chance in four--it would also develop the disease.

If the child were unlucky, would they end the pregnancy? "It's a conflict to think about terminating a baby with CF knowing full well you love your 6-year-old son," says Doyle, a genetic counselor and the state coordinator for genetic services at the Washington State Department of Health.

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