Cardio vascular | November 28, 2023
Meet Silvia Borras, a Development Lead and Clinical Scientist in Genetics and Molecular Pathology Laboratory Services in NHS Grampian, Aberdeen. The laboratory, a member of the Scottish Strategic Network for Genomic Medicine, is providing diagnostic testing for rare and inherited disease and cancer. On an average they handle around 14,000 samples a year, of these, between 500-1000 samples are for Familial Hypercholesterolemia (FH) screening.
FH is a hereditary disorder that affects about 1 in 250 people worldwide. FH increases the likelihood of developing coronary heart disease at a younger age. Individuals with FH have substantially raised levels of low-density lipoprotein (LDL) cholesterol, a key risk factor for heart disease.
In 2008, the Aberdeen laboratory started screening the LDLR gene linked with FH using the traditional Sanger sequencing method. The expected volume of tests was around 150 patients annually, but within a few years, they were handling 700 to 800 cases. A more advanced approach was needed, capable of handling a higher volume of tests whilst maintaining high sensitivity.
Upgrading testing with NGS technology
With the advancement in next-generation sequencing (NGS) technologies, the laboratory transitioned to NGS in 2016. In 2021, the laboratory switched to Devyser FH NGS, to fulfill their high throughput requirement whilst maintaining sensitivity.
"When validating diagnostic assays, we initially focus on the gene content. The chosen assay must cover the genes in the current Scottish genomic directory, and Devyser FH NGS met our gene content requirements”, explains Silvia.
Simplified workflow facilitated expanding services with limited resources
With Devyser FH NGS and its one-pool solution and simplified workflow, the Aberdeen laboratory could meet the rising testing demand without increasing costs, not only for reagents and sequencing, but also for staff time.
“Devyser FH NGS's workflow made the laboratory work easier. The library preparation and sequencing of up to 64 samples could be completed in 3-5 days. More efficient batching also allowed for further streamlining of analysis and reporting. This streamlined process was a big change for us”, says Silvia.
High sensitivity and reproducibility provide high reliability
The sensitivity and accuracy of the assay were important factors in deciding to implement Devyser FH NGS. When assessing the kit, the results were highly reproducible and met the quality-control standards set in place.
"Maintaining high-quality data is crucial. During validation, Devyser FH NGS kit consistently produced data that met our quality control criteria, confirming its reliability."
Devyser FH NGS provided the Aberdeen laboratory with high performance solution for screening of FH-related genes, whilst meeting the demanding throughput the lab now required.
Disclaimer: Devyser FH NGS is for research use only. Not for use in diagnostic procedures.
