Tuesday, March 19, 2013

More on PID Gene Testing - From Rohan Ameratunga

Dear All

Thanks again to Rohan, whose work in this field has been tireless:
" I was asked by David Gillis to present our experience at the recent Path update in Melbourne.  I did talk briefly about our customised PID testing program. 
In retrospect, I should have focused more on this rather than our research studies.  However our papers describe the program in NZ.
If Richard Loh and ASCIA/RCPA want more information on how we set it up, I would be very pleased to do this over a cup of coffee at a future meeting.
I spoke to Andrew Griffin (NATA) in 2006 and he said in principle they had no problem with our model. 
My own feeling is these tests should be done by immunologists rather than genetics as protein based assays often need to be correlated with mutational analysis.  It is easy when there is a nonsense mutation but other variations can be difficult to interpret.
I agree the structure of the reports are critical.  It is very helpful if the scientist is able to do background research to determine if the same variation has been identified previously. 
I was at a fascinating genetics talk at the Path update which surveyed NATA accredited genetics labs in Australia.  There was a 10 fold variation in federal funding and a 50 fold variation in patient co-payment for genetics tests when each state was analysed.  The amount of state funding also varied widely.  The presenter anonymised the states.  Best regards  Rohan Ameratunga"