By Genomics Aotearoa 23/07/2019


Professor Cristin Print

‘Omics technologies are an advance that few health practitioners can ignore.

The last five years has seen an expanding range of technological advances.

Genomics and related ‘omic technologies are rapidly penetrating into the mainstream of primary and secondary care and transforming our knowledge of disease through research.

Some of these new technologies are destined to be used by all health practitioners within the next five years, while others are research tools, used to build the evidence base for future medical practice.

In fact, it has been said we are now experiencing the most transformative technological advance in biomedical science since the development of the optical microscope, thanks to the shift from sequencing one gene at a time, to easily sequencing the complete genomes of many people simultaneously.

So what are ‘omic technologies?

‘Omic technologies generate masses of data to characterise the spectrum of biological molecules in cells and tissues.  Currently, the most widely used ‘omic technology in medicine is genomics – the characterisation of DNA sequence.

Genomics is often divided into whole genome sequencing, exome sequencing (which sequences only that part of the human genome encoding proteins) and targeted panels (sequencing small subsets of the genome that are associated with particular diseases).

Other ‘omic technologies are also important in health care and health research including: transcriptomics (RNA), proteomics (proteins), metabolomics (metabolites), lipidomics (lipids) and glycomics (carbohydrates).

Genomic medicine in New Zealand

Genomic tests using single genes or small sets of genes are already in use in New Zealand, and have been for decades.

New Zealand clinicians and research scientists are now building on this expertise. They have started to use next generation sequencing in some clinical situations in addition to ethically approved research studies, where clinically-relevant data can be fed back into patient care.

Local examples include paediatric exome sequencing analysis to diagnose rare syndromes and sequencing of cancers.

But we have a long way to go.

Our implementation of ‘omic technologies in health care has lagged behind that of larger countries with similar health systems, including the UK and Australia.

It is clear that ‘omics technologies have reached the clinic in some places earlier than in others.  An historical quotation from the writer William Gibson aptly describes the current state of ‘omics in New Zealand health care – “The future is already here—it’s just not very evenly distributed.”

Meeting the challenges

There are several things we need to do in New Zealand to make the most of the global ‘omic advances:

  • Capability and infrastructure development
  • Co-ordinated New Zealand-specific research
  • Emphasis on correcting health inequities specific to New Zealand
  • Digital and genomic literacy in health care
  • Expanding Māori and Pasifika leadership and participation in health genomics research

Genomics Aotearoa was set up with the clear goal of developing capability and infrastructure, and co-ordinating genomics research.

It’s clear two of the biggest issues for New Zealand medicine is interpreting and discussing genomic health data, and making access to genomic possibilities fair for all.

Genomics literacy

One of the largest global challenges to address is generating a genomically-literate health care workforce and genomically-literate patients.

Integration of genomic information with health records, pathology tests and clinical practice is essential, since medical genomics is only effective when driven by, and interpreted alongside, patient-specific clinical information.

Significant capability development is often needed as part of the continuing medical education for nurses, general practitioners, pathologists, physicians and surgeons to undertake this complex integration.

This is particularly true for the rapidly growing industry of Personal Genomic Testing (PGT). Primary care practitioners need to be in a position not only to order and interpret clinically accredited genomic tests, but also to interpret with appropriate caution the genomic data from non-accredited tests that individuals are ordering online. This is a current reality, not just a future possibility.

Health inequities

The rate with which medical genomics is developing has forced us to address issues in equity of access, genomic data governance, data security and medical ethics, ramifications which have not previously been resolved.

For instance, genomic technologies currently serve some ethnicities better than others, simply because of the distribution of ethnicities now represented in the genomic databases used to interpret gene sequence data globally.

Over-reliance on internationally-acquired genomic data, that does not accurately represent all New Zealand people, will hinder efforts tackling health issues specific to our indigenous population. Without New Zealand-based genomics data, the precise interpretation of genomic information and the success and benefits of genomic medicine will be disproportionately less for Māori.

It is therefore a health imperative to catalogue the characteristics of the genomes of New Zealanders, with an emphasis on peoples with Māori and Pacifica ancestry, while projecting the rights, interests and taonga of Māori.

Te Ao Māori is a strong focus for Genomics Aotearoa, through research undertaken by and for Māori and embedding Māori management of indigenous genomics research practice and data. This is guided by a Vision Mātauranga Coordinator and a Kāhui Māori leadership group.

Genomics Aotearoa is trying to address health inequities through research, including its New Zealand Genomic Variome’ project, which is being co-governed by Māori and Pacific people, in order to define the distribution of genomic features across New Zealanders.

New Zealand and the future of genomics

Despite lagging behind some of our large international partners, New Zealand can look forward to an exciting future in medical genomics. Yet, alongside this excitement we need to be vigilant that the genomics we do in NZ has a firm evidence base, that it includes appropriate levels of co-governance with Māori, and that we add data science to our list of required medical skills.

One thing is clear – we ignore ‘omic” technologies to our detriment.

Professor Cristin Print studies clinical genomics and bioinformatics at the University of Auckland. Read his article “Genomic technology for patients” in the NZ Medical Student Journal.