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MM18 - Aspects of Clinical Genetics (ii) Population genetic screening (in…
MM18 - Aspects of Clinical Genetics (ii) Population genetic screening
early detection
applicable in
clearly defined disorders
appreciable frequency
sensitive detection methods
benefits outweigh costs
prognosis can be altered
Tay Sachs disease
inevitable death @ 5 y/o
screening: nearly all +ve foetuses aborted
high incidence in Ashkenazi Jews
in Ire
PKU
maple syrup urine disease
homocystinuria
classical galactosaemia
CF
hypothyroidism
all treated via diet