The challenge of validating genetic testing.

Abstract

Validation of genetic testing is a multidisciplinary task that involves medical/clinical geneticists, other medical specialists, legislative authorities and the public. It is an area in which many issues are unresolved. Validation should not focus on the laboratory process alone, but should also include the prerequisites for service delivery, such as education and staffing, data collection and banking and information transfer, as well as pre- and post-test genetic counselling in a cost-effective perspective. It must thus be seen as an ongoing process at laboratory, familial and societal levels which involves many different actors. The challenges for the near future are to continue to develop technical standards for the laboratory and counselling procedures, and, in collaboration among professionals, lay persons and state authorities, to define a legal framework for the actions of the various players. This chapter discusses some problems related to the validation process for genetic testing, broadly defined.