Monday, March 18, 2013

PID Gene Testing - From Glenn Reeves

Dear All
It appears that we are blessed with a multitude of options for genetic testing in PID, and enthusiastic colleagues are full of helpful information about available services (summarised on this page).

Among the many challenges in PID gene testing are the lack of Medicare rebate for these expensive and specialised tests (sometimes, this creates a tension between the desire to enhance testing expertise through increased volume of testing, and the countermanding demand to minimise costs associated with dollar- and time-intensive tests), and the need for quality assurance in a field where commercial and research-based testing options vie for attention.
It has been pointed out to me by other colleagues that there is a pressing need for a uniform and standardised approach to PID gene testing in the Australasian setting, and I was pleased to hear that this important issue will be discussed as a matter of central importance at impending RCPA and ASCIA meetings. Among others, I know Richard Loh has a particular interest in seeing these discussions occur.
Of course, we need no reminding about the merits of a thorough review process in the setting of PID diagnosis, involving the combination of expert clinical review, appropriate genetic testing in the context of thorough pre-test counselling, and ready availability of specialised treatment services with access to genetic counselling and family / pedigree followup as indicated. This discussion group forum will continue to disseminate dialogue and facilitate agreement in this important area.
By way of interest, you may also be interested in recent publications by labimmgrp colleagues Rohan Ameratunga and the team of Pamela Pui-Wah Lee & Yu-Lung Lau, discussing their experience with PID care and research in NZ (Rohan) and China and South East Asia (Pamela and Yu-Lung). To read them, visit Immunology Readings Page and look under "PID"