Genetics and Ethics What would you do?

1. Genetics and Ethics What would you do? Annette Cashmore www.le.ac.uk/genetics/genie

2. Information about genetic status • Introduction • Worksheet • Decision making sheet

3. Male There have been no cases of CF in your immediate family. Female Your maternal grandmother has developed Huntingdon’s disease in her late 50’s. At present your parents (age 40) have shown no symptoms of the disease. Female Your grandfather’s brother, Jason, died of a muscular wasting disease at age 5. Male Your uncle, Harry, died of DMD age 17. Male It is rumoured that great-great uncle Ebenezer lost his reason in the Yukon gold-rush. There is no history of mental disorder in your immediate family.

4. Huntington’s Disease Autosomal Dominant This genetic disease was first described by Huntington in 1872 in an American of English descent. In fact the gene has spread from N.W. Europe throughout the world. HD is an autosomal dominant trait, the gene being localised on the short arm of chromosome 4. Very few patients are new mutants, since nearly all patients can be shown to have an affected parent. In fact the presence of a family history is used as one of the diagnostic criteria. The presence of the HD gene causes mental deficiency and abnormal jerking movements of the limbs beyond voluntary control (chorea). It begins at between 20 and 40 years of age and progresses to emaciation, exhaustion, dementia and eventually death, which comes as a result of secondary infections, heart failure or pneumonia. It has been called the “most demonic of diseases” and in the past, many stories of demonic possession and witchcraft may have stemmed from Huntington’s sufferers’ behaviour. No cure is known but a prenatal diagnosis test is available.

5. Decision making sheet • Will we have any children? • Will we have a prenatal diagnosis? • Will we consider termination of the pregnancy?