Reducing the burden of inherited disease: the Human Variome Project

Richard G H Cotton and Finlay A Macrae
Med J Aust 2010; 192 (11): . || doi: 10.5694/j.1326-5377.2010.tb03658.x
Published online: 7 June 2010

The worldwide availability of preventive genetic health information will benefit millions of families

In Australia, it has been estimated that around a million people are affected directly or indirectly by inherited disease. An audit of admissions to a major paediatric hospital in the United States showed that, in 71% of admitted children, their condition had a significant genetic component and, of these, 10% had an inherited disease.1 However, inherited diseases have received little attention in health budgets and research grants. One of the reasons is that each of the thousands of different inherited diseases caused by gene mutations is extremely rare and, as a consequence, affected families and clinicians in the field have little voice. Understanding and developing care for people with inherited disease depends on setting up and maintaining databases with information on the incidence, phenotype, penetrance, treatment strategies, and prognosis of these conditions.

  • 1 Genomic Disorders Research Centre, Florey Neuroscience Institutes, and Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC.
  • 2 Colorectal Medicine and Genetics, Royal Melbourne Hospital, and University of Melbourne Department of Medicine, Melbourne, VIC.



Richard Cotton has a National Health and Medical Research Council fellowship grant. We thank Heather Howard, John Coghlan AO, Desirée du Sart, Lauren Martin and Timothy D Smith for their assistance with the preparation of this manuscript.

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