The clinical utility of molecular diagnostic testing for primary immune deficiency disorders

Abstract

Over the last 20 years, there has been rapid progress in the identification of the genetic basis of a large number of primary immune deficiency disorders (PIDs). Contributing factors are major breakthroughs in genetics including the ability to generate genetically altered mice. Likewise the advances in bioinformatics and large scale sequencing technology have made gene identification feasible. This talk explores the clinical utility of gene testing for primary immune deficiency diagnosis. Advantages include certainty of diagnosis, prognostic information, family studies, prenatal diagnosis and the possibility of pre-implantation diagnosis. Genetic testing should now be regarded as an essential part of PID management. In 2003, The Immune Deficiency Foundation of New Zealand (IDFNZ) funded a feasibility study to establish a routine PID genetic testing service at Auckland City Hospital. Senior management at Auckland City Hospital made a far-sighted decision to fund the service and a senior scientist (S-TW) was appointed in 2005. The service offers a customised gene testing programme. New tests are available in 2–3 weeks and results from established tests are available within a week. Other assays such as T cell receptor excision circle (TREC) analysis are also available. The service has been accredited by IANZ, the laboratory testing programme in New Zealand. This talk illustrates the value of molecular immunology diagnosis with a series of case studies referred to the Auckland City Hospital.