Genetics-Predisposition to Adult Onset Flashcards
What are adults referred for?
- Diagnosis
- Predictive testing
- Carrier testing or cascade screening
- Family history (including cancer)
- Fetal loss or recurrent miscarriages.
What are the possible mechanisms of adult onset genetic disease?
- Single gene (x-lined)
- Chromosomal
- Mitochondrial
- Multifactorial- Genetics and environment
What makes risk estimation easier?
Single gene disorders with high penetrance
What makes risk estimation more difficult?
a polygenic genetic component interacting with environmental factors
What should test information be used for?
Prevention or treatment
What does predictive testing require?
Proper counselling
Why should children and adolescents be tested?
If there are potential medical benefits
Who shouldn’t be allowed access to the information that testing produces?
Third parties (employers, insurers)
What does susceptibility testing require?
Adequate information about the level of uncertainty
What type of inheritance do Polycystic kidney disease and Alport’s syndrome have?
Mendelian inheritance
What type of inheritance do Hereditary haemochromatosis and Wilsons disease have?
Autosomal recessive
