Norfolk Island Health Study

Norfolk Island is a remote island in the Pacific that has a unique and well-documented history and genealogy that makes its population an ideal candidate for genetic research. The finding of a population as genetically unique and geographically isolated as Norfolk Island is very rare and is therefore of vital importance in the field of human genetic research. In 2000, Professor Lyn Griffiths and her team began work on the Norfolk Island Health Study, which aimed to gather health and lifestyle information in conjunction with DNA samples to use for genetic research on human disorders. This novel project, now spanning 16 years and including a re-collection in 2010, has had a strong impact across many areas of scientific research.

Research using the NI population data has seen progress on the identification of certain genes and gene regions in relation to disease – for example in glaucoma, cardiovascular disease, migraine, obesity and type-2 diabetes. For the case of the NI cardiovascular disease research project, identification of more than 200 sites in the genome that are associated with cardiovascular disease risk was possible. Of these, the research team found confirmation for 12 places on the genome which had previously been associated with cardiovascular disease related risk, and discovered another four potential cardiovascular disease-risk genes. This is just one example of how the NI population studies can make significant progress in the tracking of how genetics and disease interact with each other, thus giving us better understanding of how certain diseases work.

Another impact that the NI population studies have had is in relation to technological advancement. The NI Eye Study that was conducted in 2008 looking at the genetic traits of Glaucoma used Whole Genome Sequencing (WGS). This breakthrough technology provides the most comprehensive search for DNA variants currently possible. Studies that provide new information on chronic human illness through utilising innovative technology are vitally important as they may allow for earlier detection of disease and aid in defining new paths for treatment options.

Apart from scientific progress, the NI population studies have opened up partnerships around the world, both in industry and academia. Similarly, reports on how the NI studies are developing have seen recognition in journals, documentaries, global conference platforms and through the awarding of grants.

The lasting impact that the NI population studies have had in regard to the Norfolk Island community have likewise been very important. For 16 years the NI Health Study has provided valuable medical information to all those who participated in the study. The community on NI now has better understanding of their own medical history and their personal medical situation at the time of collection. For a remote Island in the Pacific to have access to these medical data demonstrates how medical research can have benefits on a global scientific level, and also on a local community level.