An evaluation of the diagnostic utility of genome sequencing for rare, inherited diseases within the UK's publicly funded healthcare system is reported in the European Journal of Human Genetics this week, finding that the benefits of genome analysis in routine care are outweighed by its cost. In the study, a team of researchers from Scotland looked at data from the Scottish Genomes Partnership, an offshoot of the Genomics England 100,000 Genomes Project that provided genome sequencing to families with rare diseases for which routine genetic testing had not identified a genetic cause. The investigators find that while genome sequencing with gene panel-based analysis provided a diagnostic benefit, it was similar to less costly exome sequencing. In the future, the cost differences between genome and exome sequencing may fall as sequencing and data storage improve and variant analysis becomes more automated, the study's authors write. "However, until then, and until rare variants in non-coding regions of the genome can be classified as [likely pathogenic or pathogenic] within the limitations of routine confirmatory testing, it will be difficult in our routine diagnostic service to justify genome analysis for most cases," the researchers write.
Study Finds Costs of Genome Sequencing May Limit Utility in Routine Care
Dec 09, 2022