Background

Genetic testing for single-gene disorders has been available in the NHS since the mid-1980s and for chromosomal disorders since the early 1970s. A mature network of multidisciplinary regional genetics centres has evolved combining clinical genetics and counselling, laboratory diagnostics and research. The link between research and diagnostics has proved to be an effective mechanism for rapid translation of tests and technologies into practice and the close involvement of clinical geneticists has meant that the introduction of new tests and gatekeeping of referrals to ensure appropriate use has been relatively effective. The professionally led network approach to test provision that avoided much duplication of service provision for single-gene disorders was formalised and supported by the Government through the formation of the UK Genetic Testing Network (UKGTN). A key part of the remit of the UKGTN is to evaluate new tests proposed for service and recommend them to specialist service commissioners for NHS funding. Our discussions will be limited to potentially heritable, germline genetic disorders.

The UK approach to genetic test evaluation

To fulfil its evaluation role, UKGTN adopted the ACCE framework (‘analytic validity; clinical validity; clinical utility; and ethical, legal, and social implications’) developed by the US Centers for Disease Control and Prevention and adapted by Kroese et al. into a practical system for individual laboratories to submit a data set for peer group evaluation. This ‘gene dossier’ consists of a number of headings designed to define the test precisely in a clinical context and set out its characteristics referenced against the research literature and the results of an adequate series of in-house validation tests.