A landmark study has been published in Nature reporting how the sequencing and analysis of whole genomes from more than 13,000 patients as part of the UK 100,000 Genomes Project led to the genetic diagnosis for 60% of the patients with rare diseases.
The paper details how using next generation whole genome sequencing can help clinical geneticists provide a genetic diagnosis to more patients and reduce the turnaround time from years to a matter of weeks.
The Congenica clinical decision support platform was used as part of the study for the analysis, visualization and interpretation of data. Assignment of sequence variant pathogenicity followed the American College of Medical Genetics (ACMG) guidelines and variants were interpreted and classified in Congenica as pathogenic, likely pathogenic or of uncertain significance.
The study highlighted more than 172 million genetic differences in the genomes of the patients, many of which were previously unknown; because most of these variants have no effect on human health, the researchers used the Congenica platform to search for the few hundred 'needles in the haystack’ which cause disease.
Charles Steward, PhD, Patient Advocacy and Engagement Lead, Congenica, commented: "Current clinical tests around the world typically only look at the protein coding regions of the genome. However, by using whole genome sequencing, this study has also been able to look at the non-coding parts of the genome, regions that harbour, for example, sequences that are responsible for controlling gene activity.”
“Consequently, many more patients have received a diagnosis for their disorder. Not only that, this study is driving down the turnaround time for getting a diagnosis from months or years to only a matter of weeks. This is of critical importance to the patient, some of whom may have their treatment changed as a result of their diagnosis. This can be truly life-changing."
Nick Lench, PhD, Chief Scientific Officer at Congenica, commented: “Around 40,000 children are born each year with a rare inherited disease in the UK alone and without this approach it will take more than two years on average to achieve a diagnosis. One of the bottlenecks to the implementation of whole genome sequencing is the burden of data analysis - Congenica was founded to help reduce this burden to achieve a faster and more accurate diagnosis for patients.”
"Congenica is immensely proud to have been part of this ground-breaking study; this laid the foundation for the development of large-scale whole genome sequencing for the diagnosis of rare disease patients and its implementation into routine clinical practice in the UK. Congenica's decision support platform played a key role in the analysis and interpretation of data; subsequent validation in the main UK100K Genomes Project has resulted in Congenica being selected as the exclusive provider of interpretation software for the analysis of rare disease cases in the NHS Genomic Medicine Service”.
Based on the data from the present study and other studies by Genomics England, the UK government announced in October 2018 that the NHS will offer whole-genome sequencing analysis for all seriously ill children with a suspected genetic disorder, including those with cancer. The sequencing of whole genomes will expand to one million genomes per year by 2024.
Providing decision support to the 100,000 Genomes Project
To read more about Congenica’s selection as the exclusive provider of clinical decision support for rare disease cases in the UK NHS Genomic Medicine Service click on the button below.