Genetic Testing and Microarray Technologies

Abstract

The use of microarrays allows many genetic tests to be done simultaneously on one genetic sample and changes (mutations) to be found that are currently not detected. Microarrays are being used predominantly in the research sector. There has been some movement into the clinical testing and diagnostics arena internationally, but its eventual utility in clinical screening remains to be seen. The diagnostic aspect of microarrays has been enthusiastically reported in the clinical and scientific literature and remains one of the most likely uses of the technology as the cost comes down.

There is still a technology block regarding the use of microarrays with PGD for aneuploidy screening in the form of whole genome amplification. If this problem can be overcome, microarrays could conceivably make a positive difference to implantation rates and reduce miscarriage rates for those who choose to use PGD for this purpose. PGD requires, however, that in vitro fertilisation (IVF) be used to generate embryos for testing. It is therefore unlikely that it will ever be used outside fertility clinics and, even then, only for a subset of clients. Future use remains debatable.

As the cost comes down, microarrray technologies will likely supersede the existing cytogenetic technologies as a first-line prenatal test.