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Clinical genomics

Genomics diagnosis in clinical medicine is well established overseas, but a lack of diagnostic capability and infrastructure in New Zealand is forcing clinicians to purchase sequencing and analysis overseas.

Building infrastructure and capability in genomics diagnosis is therefore critical to the future of genomically informed healthcare in New Zealand. The Clinical Genomics project plans to develop the workforce and skills to support genomic diagnostics in healthcare delivery through collaborative relationships between laboratories and clinicians.

Genomic datasets will be created on patients with real-world clinical problems as they present to clinical genetic services. This will be done by engaging New Zealand research teams which already have this research capability. Transferring the datasets to DHB-located laboratories will provide diagnostic laboratory scientists with opportunities to expand analytical skills and capability in a collaborative way. In turn, clinical genetics services physicians and genetic counsellors can draw on this laboratory analytical expertise to then develop their own skills in clinical genomics, replicating the multidisciplinary nature of international genomic diagnostic teams.

Building familiarity and capability in genomic testing will represent a step-change for national laboratory services and hopefully be a catalyst for further health funding investment.

This project is co-funded with the New Zealand health research charity Curekids. It brings together researchers from the University of Otago and University of Auckland, and three DHBs (Auckland District Health Board, Capital & Coast District Health Board and Canterbury District Health Board).


  • To apply genomic diagnostics to a group of 50 families with a child (or children) with an undiagnosed developmental disorder
  • To link the research sector with the clinical diagnostic sector across NZ to build capability and embed tools and pipelines to improve clinical genomics diagnostics in NZ
  • To introduce clinical genomics into disadvantaged communities with a high proportion of Māori and Pacific people
  • To develop and expand linkages between the research and diagnostic genomics sectors in NZ


  • Stephen Robertson (University of Otago)
  • Richard King (Canterbury Health Labs, Christchurch)
  • Clive Felix (Genetics Laboratory, Wellington Hospital, Capital & Coast District Health Board)
  • Mark Greenslade (Molecular Genetics Laboratory, Lab Plus, Auckland District Health Board)
  • Cheng-Yee Chan (Canterbury Health Labs)

  • Natasha Henden (Lab Plus)

  • Jo Martindale (Capital & Coast DHB)

  • Padmini Parthasarathy (University of Otago)

  • Kate Gibson (Genetic Health Service NZ)

  • Rachel Stapleton (Genetic Health Service NZ)

  • Ian Hayes (Genetic Health Service NZ)

  • Patrick Yap (Genetic Health Service NZ)

  • Kate Neas (Genetic Health Service NZ)

  • Colina McKeown (Genetic Health Service NZ)



Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism    
Chopra et al.    
American Journal of Human Genetics