6k. Management


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Finally examining the newborn screening for the LSDs, mostly in the US but there are many other efforts.  In Europe ,Asia, Italy, Taiwan and Australia  we have been piloting newborn screening for several LSDs that are listed here: Krabbe, Pompe, Gaucher, Fabry, Niemann-Pick, MPS. The results are surprising because we are finding a lot more LSDs on newborn screening than we anticipated. The issues that we are facing now are what do we do with all these LSDs, because some of them involve later onset. You have a baby you know will develop an LSD 20 years from now so what do you do?  Do you treat that baby or not? Do you do surveillance testing on that baby on a yearly basis?  It’s a big ethical debate right now about what to do with all the LSDs and what to do about the newborn screening. Newborn screening data is going to change the prevalence of these diseases, the frequency of these diseases and soon we will have a completely different picture.

 

 

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