We spoke with Dr. Samantha Butler, Senior Principal Clinical Scientist and Solid Cancer Lead at the West Midlands Regional Genetics Laboratory — hosted by Birmingham Women’s and Children’s NHS Foundation Trust and one of the UK’s largest genomics facilities and the lead provider for the Central and South Genomic Laboratory Hub (C&S GLH) within NHS England.

As hereditary cancer testing expands beyond clinical genetics and into mainstream care, laboratories across the NHS are under increasing pressure to deliver higher volumes, faster turnaround times, and consistent interpretation across sites. In this conversation, Dr. Butler shares how the SOPHiA DDM™ Hereditary Cancer Solution v2.0, recently automated on Hamilton’s NGS STAR liquid handling platform, helps her team address these challenges and how SOPHiA DDM™ end-to-end solutions can enable a seamless transition to more integrated and distributed genomic analysis across the C&S GLH network.

Watch the spotlight:

Could you introduce yourself and your work at the West Midlands Regional Genomics Laboratory?

My name is Samantha Butler. I'm a Senior Principal Clinical Scientist at the West Midlands Regional Genomics Laboratory. I'm also an Honorary Associate Professor at the University of Birmingham, and I've worked here for probably the last 13 years, in the role of Solid Cancer Lead. That covers inherited cancer and solid tumors.

What role does your lab play in supporting hereditary cancer testing in the region?

We test about 4,500 patients per year, across a range of hereditary cancers—for example breast cancer, hereditary colorectal cancer, prostate cancer, and pancreatic cancer. We also provide testing for specialist services, such as inherited melanoma and VHL.

We run a number of different panels, including larger gene panels, but we also still do single-gene testing where that’s appropriate.

What challenges does your lab and others in the NHS face in delivering this testing?

All of the laboratories across the UK are facing the same challenges. We are really up against it with turnaround times, and with the volume of testing, which is continually increasing as hereditary cancer testing becomes available to more patients through mainstreaming, rather than just through clinical genetics.

A typical workflow for us is receiving samples, extracting them, and then putting them through a next-generation sequencing workflow to interpret and report clinically. The main challenge is trying to make every part of that process quicker.

How has the SOPHiA DDM™ Hereditary Cancer Solution impacted your day-to-day?

We've been using the SOPHiA DDM™ Hereditary Cancer Solution for approximately a year now. We moved to it because we wanted to consolidate our copy number analysis and our SNV—or single nucleotide variant—analysis on the same panel, to have a more cost-effective and faster solution.

Previously, we were running an SNV panel and then doing MLPA for copy number analysis. Moving to an integrated NGS panel has benefits beyond turnaround time. It means we don’t have to run MLPA on top, which saves both cost and time.

What benefits do you expect from the new generation web-based SOPHiA DDM™ Platform?

We’re hoping to move to the new SOPHiA DDM™ Platform so that all of our scientists can portal in to do the analysis. That has clear benefits, particularly in not needing everyone to be on site all of the time.

We’ve also worked with SOPHiA GENETICS on a customized report to get an output that works well for us. There are benefits in how the CNV data are presented, and we’re quite excited about using it. The platform also has the ability to flag variants and show how things have been reported previously.

How could SOPHiA DDM™ Dispatch support your distributed analysis goals?

We’re looking at using SOPHiA DDM™ Dispatch across the Central and South GLH. It allows us to do the wet-lab work in one place, while distributing the analysis out to other laboratories, which would be hugely beneficial.

Dispatch provides a simple ordering system that ties in with samples being physically sent to us. When you’re running 48 samples, a real benefit is being able to flag and grey out those that will go back to another laboratory for distributed analysis.

How do you see the SOPHiA DDM™ Peer Networks enhancing variant interpretation?

Variant interpretation is a huge burden on the NHS and on individual laboratories. The more we can share data, the better. Being able to flag variants that others have seen before, and to share notes or learnings from previous cases, would be so beneficial.

In the UK, we’re always looking for better ways to gather and apply this data. While there are national guidelines, there are also individual guidelines that need to be applied. If Peer Networks can provide visibility and shared learning, that has huge benefits—it allows updates to be shared across multiple parties, rather than keeping knowledge siloed within individual labs.

How do you see genomic analysis evolving in the NHS UK in the coming years?

Being able to use tools that support rapid testing and shared interpretation will be essential. They allow us to keep moving forward and to do more and more of this work—which is exactly what we’re going to need to do.

Streamlining is really important. If we can find ways to improve workflows and reduce analysis and reporting time, that benefits the service and, ultimately, the patients. We need results quickly to get patients onto the right drugs, and with more treatment options emerging, this is a really exciting area to see develop.

Discover how SOPHiA DDM™ supports scalable hereditary cancer analysis

Speak with our team to see how the SOPHiA DDM™ for Hereditary Cancers can help optimize workflows across your laboratory.

To learn more about streamlining interpretation and enabling distributed analysis, request a demo of SOPHiA DDM™ Dispatch and Peer Networks.