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New genetic technology a first in NZ

The unassuming grey machine that sits in the corner of the lab heralds a new era in DNA technology. This micro-array machine technology can provide a rapid, high resolution genome wide screen analysis of up to 1.8 million genetic features in a single experiment. Which in English means it can look in incredible detail at a chromosome and detect chromosomal imbalances that cannot be found by traditional genetic methods.

The Genetics Service here at C&CDHB is the first diagnostic laboratory in New Zealand to have this technology in-house. Samples were previously sent away to Australia for analysis by micro-array. The introduction of this cutting edge technology has initiated a unique training secondment in conjunction with the Molecular Diagnostics group in Laboratory Services. This enables up-skilling of Genetic Services staff in the techniques of DNA isolation and QA, which underpin the processes required for the successful implementation of a micro-array service.

The laboratory deals with three main areas of analysis; blood from individuals with a variety of problems including congenital abnormalities, learning difficulties, reproductive difficulties and sexual development problems; amniotic fluid and other samples from high risk pregnancies; and bone marrow and tumour samples from patients to aid in the diagnosis and management of the disease.

"We have the new machine on trial for the next three or four months – a sort of try before you buy arrangement - to give us time to get to grips with it and compare it to the other method," explains Clive Felix, team leader, genetic services.

Traditionally scientists use a microscope at 1000x magnification to see patients’ chromosomes using the human eye to look for abnormalities. The new array technology generates results automatically with computers aiding the interpretation of vast amounts of genetic data. "With the old system, even on the very best samples, you could see between 550 to 850 bands. With the micro-array machine the number is in the millions because the new machine examines DNA – the building blocks of chromosomes," says Clive.

"In terms of diagnosis we are now finding 20% abnormalities, compared with 8% with the old technology."

The lab was chosen by the supplier because of its excellent track record in developing and implementing new technologies. "We are a well-staffed, experienced lab that copes well with our workload. Our high-performing team in the lab turns around samples well within NPAAC (National Pathology Accreditation Advisory Council). Furthermore, the labs close proximity to the Clinical Genetics team and the Molecular Diagnostics lab provides an ideal environment for the introduction of this new diagnostic genetics service.

Meg Smith, Cytogeneticist is one of the first to be trained on the new machine. "It’s pretty exciting to be using this new technology. But it’s a challenge to get used to a completely new system and format."

Because the technology is so new and shows a new level of detail on the DNA we are seeing things that no one has ever seen before!"