Dear All
Thanks to Richard Loh for his advocacy in finding a "best way" forward for Australasian PID gene testing:
"I wanted to know if Australia/NZ should have their own database for genetic tests for PID (? using current RCPA)
or utilise an international database (ClinVar is the latest). The better international databases have info on whether labs are part of QA programs. It is wonderful that we have so many labs able to offer tests but what is turn around time, quality of their result, quality of their report. I have had reports ranging from an e-mail that we have found 2 deletions but do not know clinical significance to a 6 page report that will send a clinician to sleep- how do I incorporate these reports to my laboratory reports.
"I wanted to know if Australia/NZ should have their own database for genetic tests for PID (? using current RCPA)
or utilise an international database (ClinVar is the latest). The better international databases have info on whether labs are part of QA programs. It is wonderful that we have so many labs able to offer tests but what is turn around time, quality of their result, quality of their report. I have had reports ranging from an e-mail that we have found 2 deletions but do not know clinical significance to a 6 page report that will send a clinician to sleep- how do I incorporate these reports to my laboratory reports.
Do research, overseas, and even "local" diagnostic labs fulfil NPAAC Requirements for Medical Testing of Human Nucleic Acids (attached).
The molecular geneticists are stating that for less than $500 they will be able to sequence any gene and there is no reason to send any test away. Is this the future? There is a report from Genetics Working Party addressing points such as those listed below that will becoming out soon. As Immunologists we need to have a clearer idea what we want, otherwise it may be imposed on us.
This will also be discussed by the ASCIA Laboratory Committees and Immunodeficiency Committee.
Best wishes Richard"
PS. Ongoing discussions are already well-advanced on this topical area at College levels. I share Richard's concerns about the need for standardised approaches to PID gene diagnostics, and hope discussions within this forum can contribute to some extent towards rational and effective approaches at an Australasian level, particularly given the great achievements shared by colleagues in NZ and SE Asia - GR, Moderator
