Translating genetics research into a national health service clinical diagnostic environment

Genetics research is being transformed by the advent of novel technologies, allowing the pathogenesis of more complex diseases to be understood. These developments are being applied to every field of human disease, and mental retardation (MR) is no exception. Our understanding of the genetic basis of single gene disorders, constitutional disorders and complex genetic diseases such as autism, schizophrenia and bipolar disorder is increasing with the advent of novel methods for single nucleotide polymorphism (SNP) typing, sequencing and mapping of structural variants. There is a tremendous opportunity to use this information in the clinical diagnosis and management of patients. However, translation of such research into clinical practice lags well behind the basic research. The complexities of the diseases and technologies demand focused translational studies to demonstrate proof of clinical utility. The design of such studies must anticipate the information that clinicians, patients, commissioners and policy-makers alike will require to justify their implementation in clinical practice. This chapter will highlight current clinical genetics testing approaches in a National Health Service environment, emerging research and technologies that will need to be translated and describe some of the processes involved in translation, not least the barriers encountered in doing so. A case study is presented that exemplifies these translational challenges in the field of MR. Copyright © 2010 S. Karger AG, Basel