Programme for genetic diagnosis of rare diseases proves feasible for routine clinical practiceBMJ 2014; 349 doi: https://doi.org/10.1136/bmj.g7781 (Published 19 December 2014) Cite this as: BMJ 2014;349:g7781
- Susan Mayor
A nationwide programme to genetically diagnose rare diseases is feasible for use in routine NHS patient care, results from the first 1000 families analysed have shown.1
Use of genomic sequencing to diagnose disease requires robust systems to track individual samples and datasets, prioritise plausible pathogenic variants, filter out benign variants, and link findings to individual clinical data for interpretation and clinical follow-up.
The Deciphering Developmental Disorders (DDD) project has developed a UK-wide network of clinicians working across all 24 regional genetics services, to …