Quote:
Originally Posted by kiwi33
Thowell, what kind of genetic screening are you and your husband considering for your daughter?
If it is a narrow screen (looking for genetic differences which are known to be causal of genetic diseases), that could provide helpful information.
I am far less sure about the possible benefits of genome-wide screening. In a genome-wide screen what is done is to look for Single Nucleotide Polymorphisms (SNPs) across the whole genome. It is inevitable that your daughter will have many SNPs because all people, apart from identical twins, are unique in a genetic sense.
The great majority of SNPs are not associated with any known disease. A minority are but, as far as I know, few if any of them have led to improved treatment options for the disease in question.
It might be an idea if you and your husband asked your geneticist searching questions about these points and then decide whether or not a genome-wide genetic screen would help your daughter.
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I will ask them Monday when they call me the exact type of testing. I know he mentioned something about Metabolic???? I really am not sure but will post it here when I find out. Thanks for the info.