Changing Nature's Course: The Ethical Challenge of Biotechnology

By Gerhold K. Becker; James P. Buchanan | Go to book overview

5
Clinical and Ethical Challenges of Genetic
Markers for Severe Human Hereditary Disorders

Rita Kielstein


The Winter Family History

I met Mrs Winter, 55, in 1981, when she became a dialysis patient in our dialysis unit. As a carrier of autosomal dominant polycystic kidney disease (ADPKD), she had developed chronic renal insuffiency and had to have dialysis treatment three times a week. In 1977 large cysts in both kidneys and in the liver were confirmed by ultrasound diagnosis. After Mrs Winter became a dialysis patient, her four sons underwent ultrasound screening which showed that all sons were presymptornatic carriers of ADPKD living healthy lives. These were the reactions of the sons after they learned about their carrier status: First of all the sons accused their mother for having as many as four children, even though she knew, that this severe disease was running in the family. Mrs Winter's father and his two brothers had also died in renal insuffiency caused by ADPKD. Albert, 32, married, and father of a six-year old son, committed suicide when he developed first symptoms of pain and renal dysfunction three years later. Otto, 30, married, sold a house, which was half completed, when he learned about the diagnosis. He did not want to make long-term plans for his life and burden his family with a mortgage. Karl, 25, and his fiancé dissolved their engagement because Karl did not want to have children, nor burden his fiancé with his own genetic prediction. Paul, 21, the youngest, a student did not complete his studies and took a job in order to make money and enjoy life while it lasted.

The Winter family story demonstrates very clearly different ways of translating DNA prediction into real life situations. This is in short the clinical and ethical challenge of DNA testing for severe human hereditary disorders.

-61-

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