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Changes in our genes, both small and large, are a fact of life. They drive evolution, constantly introducing phenotypic variability into the population, ensuring that we, as a species, can adapt to changing environments. However, this same process can also cause disease and illness; in the most obvious instances, and the most devastating, these diseases are diseases of childhood: cystic fibrosis, muscular dystrophy, Tay-Sachs disease, to name a few.

The statistics are overwhelming: 60% of all humans will be affected by a mutation in their lifetime1; 71% of admissions to a major US paediatric hospital have an underlying genetic basis2; 50% at the Royal Children's Hospital in Melbourne. This, together with the fact that the incidence of diagnosis of genetic disorders at birth is 1% per annum, is clear evidence that genetic disease is a major health problem.

In the past decade, we have made great strides in improving the technical side of managing genetic health. Where once it took a global consortium of thousands, close to fifteen years, and several billion dollars to sequence the human genome, that same work can now be completed on the lab benchtop in a few days for a fraction of the cost. Diagnostic tests now exist for many genetic disorders, many targeting specific mutations in the genes responsible. In an increasing number of cases, mutation specific therapies are being developed to manage and treat the symptoms of some genetic conditions, for example: cystic fibrosis3. But technical advancement only supports one side of this complex problem and unfortunately the other side, the basic information side, is lagging disastrously behind.

A real life problem

The Australian population is multicultural with more residents born outside than inside the country. Ethnic groups are diverse, and countries of origin even more diverse. Frequently, in our familial cancer clinic, we are faced with branches of families where the informative genetic information is located overseas. Australian data is patently inadequate to manage these families, as key genetic information resides in repositories and registers overseas, or has not yet been brought to the attention of genetic services in the country of origin. If there has been work done on a variant found in such families overseas, it remains largely invisible, and inaccessible to us and other emigrant countries.

— Professor Finlay Macrae Head of Colorectal Medicine and Genetics Royal Melbourne Hospital

Unfortunately this story is far too common. Not enough information on genetic variations and their effects is making its way out of labs and clinics and being shared, within countries and internationally. Too often there is no available information, or even worse, incorrect information, because there is no system in place to collect all of this vital knowledge and make it accessible to the world..

 

(1) Baird, P., Anderson, T., Newcombe, H., and Lowry, R. (1988). Genetic disorders in children and young adults: a population study. American Journal of Human Genetics, 42(5):677––693.
(2) McCandless, S. E., Brunger, J. W., and Cassidy, S. B. (2004). The burden of genetic disease on inpatient care in a children’s hospital. American Journal of Human Genetics, 74(1):121–7.
(3) Kerem, E. (2006). Mutation specific therapy in CF. Paediatric Respiratory Reviews, 7:S166–S169