Reducing the burden of inherited disease: the Human Variome Project

n 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. Gene mutation databases are labour intensive to develop, populate and maintain, but are essential if we are to realise the benefits of the vast amount of genetic data on individuals and populations, both healthy and unhealthy, embedded in the human genome. At present, there is a lack of funds for critical inherited disease registries or databases in Australia and around the world. Without adequate and sustained funding for database set-up and curation, these databases will inevitably harbour data deficiencies and even inaccuracies, which may have serious health consequences.