100,000 genomes pilot on rare-disease diagnosis in health care preliminary report
The Genomes-Project-Pilot-Investigators
Abstract
Brief summary: This paper describes the pilot data for the UK 100 000 Genomes Project, including Whole Genome Sequencing (WGS) data on 4660 participants from 2183 families, and covering 161 disorders. They made a genetic diagnosis in 25% of probands; diagnoses were more likely for probands who presented with intellectual disability, hearing, or visual disorders (range 40% to 55%) and in cases who had WGS data on family trios (both their parents) or larger family pedigrees. Of the genetic diagnoses made, 25% had immediate implications for clinical decisions for the probands or their relatives.
Topics & Concepts
ProbandPedigree chartMedical diagnosisDiseaseWhole genome sequencingMedicineGenetic counselingGenomeFamily medicinePsychologyGeneticsBiologyPathologyMutationGeneGenomics and Rare Diseases