confirming if an individual has a disease, newborn babies have heel prick/sweat tests or adults provide DNA sample from cheek swab eg.
false negative could occur, other genetic abnormalities can be found which is sensitive
identifying carriers?
white blood cells collected or cheek cells from mouth swab. DNA is extracted from cell nucleus and analysed to detect defective gene mutation
emotional distress of knowing you're a carrier/other genetic abnormalities. screening doesn't test for all possible mutations, also results not 100% accurate
advantages of genetic screening?
gives info about abnormalities in foetus
info can allow people to make informed decisions and consider termination
info allows people to prepare/start counselling
gives choice of IVF to implant only embryos with no gene mutation
