Call for genetic testing teamwork

Louise Bicknell
Louise Bicknell
Bringing diagnostic laboratories and researchers closer together will help New Zealand families by better finding and diagnosing one-in-a-million genetic disorders.

University of Otago researcher Dr Louise Bicknell believes that such better collaboration will spark big improvements in our genetic testing practices.

"We’re getting much more organised with the technology and the way we do the analysis," Dr Bicknell said yesterday.

New Zealand’s practices had fallen behind other developed nations and we might be missing opportunities "to find and diagnose one-in-a-million genetic disorders", Dr Bicknell said.

In other countries, including Australia and the United Kingdom, diagnostic genetic labs had teamed up with research labs to maximise findings.

Dr Bicknell, who is a Rutherford Discovery Fellow at the Otago pathology department, said New Zealand needed a strong "national clinical/research alliance" involving many researchers and all the diagnostic labs.

Some productive individual collaborations already existed in the country but there was no organised alliance to maximise the number of results that could be reported back to families.

Genetic tests ordered by New Zealand clinical geneticists were done overseas.

If those tests suggested a genetic abnormality could be the cause of a disease, globally agreed criteria had to be met, to enable the findings to be reported back.

If the diagnostic lab identified a genetic abnormality not seen before, the lab could not report this as a confirmed finding.

That meant that some important health data could not be fully used.

In her research lab, her team could undertake experiments investigating these gene alterations, publish the findings and, together with the diagnostic lab, report those findings back as a positive result.

Later clarifying genetic alterations that may have caused a condition would help New Zealand patients and "could have a big impact for other patients" elsewhere in the world.

Dr Bicknell has just been awarded a two-year HRC Consolidator Grant of $599,939 to focus on "a clinical research alliance for diagnosing genetic disorders in New Zealand".

The grant will enable a new system where New Zealand clinicians will order the genetic test as usual but, if no findings can be reported back by the diagnostic lab and family consent is given, laboratories like hers will get the data from the overseas provider and analyse it.

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