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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.

Clinical genomics

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

Genomic datasets were created for patients with real-world clinical problems when they consulted clinical genetic services, in collaboration with teams in Aotearoa that already have this research capability. Transferring the datasets to DHB-located laboratories provide diagnostic laboratory scientists with opportunities to expand analytical skills and capability in a collaborative way. In doing so, they established high confidence diagnoses in 16 of the 51 evaluated families over the course of the project, and found a variant of uncertain significance with some potential to be the sought-after diagnosis in a further six families. Consequently 43% of participating families had a finding that contributed (or has the potential to contribute) to the management of the family under genomics, replicating the multidisciplinary nature of international genomic diagnostic teams.

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

This project was co-funded with the New Zealand health research charity Curekids. It brought 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).


  • established methods for importing and storage of genome scale datasets in District Health Boards
  • increased familiarity and competence in analysis of genome scale datasets by diagnostic scientists in Aotearoa
  • experience with and adoption of evolving sets of tools to establish up-to-date genomic diagnostic methods
  • convening of clinicopathological case conferences to evaluate and harmonise practice across diagnostic and research scientists and clinicians actively using genomics in healthcare
  • applied genomic diagnostics to a group of 50 families with a child (or children) with an undiagnosed developmental disorder
  • linked 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
  • introduced clinical genomics into disadvantaged communities with a high proportion of Māori and Pacific people
  • developed and expanded linkages between the research and diagnostic genomics sectors in Aotearoa


  • 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