Accurate variant analysis facilitates personalised care pathways

The emergence of new therapies that treat the causes of cystic fibrosis is creating an imperative for more accurate variant analysis. To address this demand Elucigene Diagnostics, a leading developer and distributor of prenatal and human genetics diagnostics, in partnership with Congenica, a leader in genomic analysis and interpretation has developed a new NGS cystic fibrosis kit.

The “all-in-one” CFTR gene analysis kit allows sample processing, analysis with next generation sequencing (NGS) and variant interpretation streamlining the diagnostic process.

Dr Mark Street-Docherty, Commercial Manager for Elucigene Diagnostics says: “Congenica has produced a bespoke analysis and reporting pipeline to support customers using our new targeted NGS kit for cystic fibrosis (CFTR) gene analysis.

“The Congenica and Elucigene partnership will provide support to CFTR diagnostics, reporting only clinically relevant information, and therefore simplifying analysis associated with competitor whole genome approaches.

“Congenica’s SapientiaTM platform will form part of our offering to the customer, enabling seamless sample processing and analysis.”

Craig Taylor, Head of Business Development for Congenica, says: “We’re very excited about partnering with Elucigene and introducing Sapientia to clinical labs around the world, enabling them to benefit from the same interpretation and analysis platform employed by leading NHS Hospitals in the UK. This partnership illustrates the flexibility of Sapientia, which can be customized according to partner needs.”

Cystic fibrosis is an inherited disorder affecting 70,000 people worldwide. The new product is the first in Elucigene’s range to embrace Next Generation Sequencing (NGS). Elucigene has developed probes specifically designed to deeply sequence, with higher confidence, the areas of the CFTR gene where the targeted variants occur. This has increased the detection rate from between 85 to 95 per cent to over 99 per cent for some populations.

The test uses a bespoke version of Sapientia, including a bioinformatics pipeline that filters out non-pathogenic mutations and returns the pathogenic variant. Once the variant is identified, scientific literature regarding the consequences of that exact mutation on the patient’s phenotype and condition is made readily accessible through the platform for clinicians to consult.

Bringing this new kit to Elucigene’s international customer base will provide a better picture of the distribution of the variants within different populations, allowing the development of personalised medicine.