Genetic testing for rare disorders: managing expectations and costs

Many systems have developed that recognise the difficulty in developing the statistical power that is possible in more common diseases and their associated interventions. Programs such as the Orphan Drug Act of the US Food and Drug Administration recognise the statistical hurdles and shift the focus towards post-market surveillance in order that these tests and therapeutics can be made available to the public. As such, much improved systems will be necessary through which the evidence about the clinical histories of diseases, whether treated directly or symptomatically, can be collected. The international nature of genetic diseases and the benefit to countries with multicultural populations are such that it is an area in which international collaboration is possible and of potential benefit to all.