Cystic fibrosis | March 18, 2024
We spoke with Dr. Andrew Purvis, Clinical Scientist for West of Scotland Centre for Genomic Medicine, in Glasgow, to talk about the impact of implementing Devyser CFTR 68 in an NHS Scotland Genomics Laboratory.
Dr. Purvis has been working within NHS Genetics Laboratories for nearly 20 years and has had cystic fibrosis (CF) testing as his primary focus over the past 6 years. The genomics laboratory in NHS Greater Glasgow & Clyde where he works is one of four main testing hubs and covers genetic testing for the entire western Scotland region, including major cities like Glasgow. As well as doing all the CF genetic testing for this region, together with the NHS GGC newborn screening laboratory, the genomics laboratory helps process all newborn genetic screening for CF in Scotland. Currently, the laboratory yearly processes around 500+ samples from family referrals and another 400 samples from the newborn screening service.
A kit to overcome modern laboratory challenges
The genomics team at NHS GGC found significant challenges using the previous technology for CF gene testing, including sporadic support, having to cope with increasing sample numbers, and a diversifying population. In order to overcome these significant challenges, they began searching for a new CFTR (cystic fibrosis transmembrane conductance regulator) gene assay, to provide their existing cystic fibrosis service without the need for identifying funding for additional staff. Therefore, they were keen to identify a technology that increased the efficiency of the laboratory.
The main criteria for identifying a replacement solution were ease of setup, high sensitivity, reproducible results, and the capability to cover an increasingly diverse population. The NHS GGC genomics team were already aware of the Devyser technology for other services; “We’d been using Devyser kits for other services in the lab, and people had been very happy. Given Devyser had this option, and with our previous experience, this was the main kit we were looking at. It needed to cover as high a proportion of variants as possible,” recalled Dr. Purvis.
An assay that is easy to verify and implement
The NHS GGC team found verification and implementation of the Devyser CFTR 68 kit relatively straightforward. “For the guys in the lab, it’s very simple and easy to setup. It certainly fitted the existing workflows we have. We did extensive verification of the kit and found the kit very reproducible from run to run, sample to sample,” Dr. Purvis explained. In the past, the laboratory found that some variants amplified were very weak, but this has never been an issue with the Devyser kit. Additionally, the kit size of Devyser CFTR 68 allowed priority samples to be tested rapidly, with sample runs occurring every few days. This also helped the lab avoid wastage; with reaction kit sizes of eight, they never need to run incomplete assays. Dr. Purvis notes, “In terms of testing patients that come into the lab, we can get them tested very quickly, if need be, when they are urgent referrals.” This allows for quicker turnaround times for patients and less stress when waiting for results.
Devyser CFTR 68 helps to cover a diverse population
Devyser CFTR 68 offers a multi-ethnic panel of 68 mutations frequently found in the European population. It does not require the use of additional population-specific kits. For the team at NHS GGC, this was an important benefit for using the kit; “A good advantage of the kit is there are variants that are designed for other ethnic groups, that has proved to be useful in our analysis” explained Dr. Purvis. Demographic data shows that Scotland is shifting to a genetically more diverse population. By covering these groups in Devyser CFTR 68, the kit ensures that testing equity is maintained across a range of patient groups.
Devyser CFTR 68 gave NHS Scotland equitable, rapid testing whilst minimizing costs
With the implementation of Devyser CFTR 68, the NHS GGC genomics laboratory have been able to face the challenge of high throughput testing, in an ever-more diverse population. The size of kit allowed regular sample runs and keeping costs to a minimum. The two-tube, end-to-end CE-IVD cystic fibrosis testing solution facilitated easy verification and implementation.
Want to learn more about Devyser CFTR 68? Click here!
