Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle for each person. This allows for a more accurate approach to manage disease, rather than a one-size-fits-all approach.
Providing personalised treatment for diseases like cancer is no easy task, but genomic-based health care is becoming more mainstream in the UK.
Dr Wook Ahn works in London as the bioinformatics training lead for the National Health Service (NHS) Scientist Training Programme. He is also operational lead for the Genome Informatics Section at Guy's & St Thomas' Hospital, London, responsible for the hospital's clinical next generation sequencing (NGS) analytical workflows. His interests span the technical side of genomics in hospitals, through to very large-scale projects that link genomics and data science for communities.
He visited New Zealand at the end of 2018 to share experiences on the transition of genomics research into routine clinical service, as part of the Genomics Aotearoa aim of building capability in genomics and bioinformatics in this country. His visit was co-sponsored by the Genomics Into Medicine programme of the University of Auckland.
Bioinformatics is the development of methods and software tools for understanding the biological data derived from genomics. Clinical bioinformatics supports translating this genomic information into health services.
Dr Ahn talked to small groups of translational scientists involved in genomics research and clinical practitioners from NZ universities and hospitals. He outlined techniques and pipelines developed in projects he has been involved with, particularly around the robust reproducibility needed to deliver clinical-level services and emerging best practice changes in the NHS. Researchers also drew on his experience of reconfiguring genetics laboratories.
Dr Ahn is the bioinformatics lead for the 100,000 genomes project in Guy's & St Thomas' Hospital, which is sequencing whole genomics with a focus on rare and infectious diseases. Seven labs are co-ordinating to collect genomic information from the UK population base. The aim is to identify variations between genomes, which potentially indicate genes with a role in rare disease. From this, tests could be developed to predict and potentially prevent life-threatening diseases.
Dr Ahn said people who feel a responsibility to the greater good are volunteering to participate, providing their DNA for sequencing with the expectation that, when combined with others, their data will not only potentially help the health of their own families but also the wider community. Such genomic data is vital to informing research. While it is still early days, the data collection and analysis is helping to join the dots, providing valuable prognostic evidence that could be translated into clinical tests.
While New Zealand has a considerably smaller population to draw from, the principles and concepts are the same and the lessons learnt from the 100K project can be applied here. New Zealand may also be interested in the discussion and public engagement currently in the UK, around the benefits of disease prediction, and the potential challenges of managing DNA information.