ABSTRACT

The availability of new genetic tests and their use in health care is expanding rapidly (Schmidtke et al., 2005; Javaher et al., 2008). In spite of technical improvements leading to steadily lowering laboratory costs per test (Rogowski, 2006), the costs of bioinformatic evaluation, counselling and follow-up testing could easily outweigh the potential savings from early prevention and lead to an overall increase in health-care expenditures (Rogowski, 2007; Mardis, 2010). It has been demonstrated, for example, that it is not economically feasible to conduct cascade testing for all monogenic disorders for which tests are available (Krawczak et al., 2007). A recent survey of Canadian health-care providers also reported insufficient resources to fund all genetic tests that were considered desirable (Adair et al., 2009).