We were delighted to meet with the two presenters of this poster, Elizabeth Ratsma, Pre-Registration Clinical Scientist – Cancer Genomics and Charlotte Flanagan, PhD, Innovation Lead at The Royal Marsden NHS Foundation Trust. The poster was recently presented at the ESMO Gynaecological Cancers Congress 2024 in Florence, Italy.
We would like to warmly thank them for their insightful presentation and for sharing the key takeaways of their study and experience with us through this following interview.
Dear Elizabeth and Charlotte, could you please share with us more information about the scope of this study? What was the aim of it?
Homologous Recombination Deficiency (HRD) testing is available to patients in the NHS who have been newly diagnosed with high-grade epithelial ovarian cancer.
Prior to December 1, 2023, eligible patient samples were sent to the United States for testing via Myriad. The aim of this study was for the North Thames Genomic Laboratory Hub to establish an alternative in-house method for testing ovarian FFPE samples for genomic instability and BRCA mutation status. This would provide an HRD score to enable patients to access PARP inhibitors.
How was your experience with implementing the SOPHiA DDM™ GIInger Genomic Integrity Solution?
We had experience using the SOPHiA DDM™ Platform from previous demos trialing the SOPHiA DDM™ Dx HRD Solution. The SOPHiA DDM™ GIInger Genomic Integrity Solution (or GIInger™) is accessed in a similar process, and it was not difficult to navigate this new workflow in the software. Our bioinformatics team developed a CLC script with support from SOPHiA GENETICS to upload our low-copy WGS sample FASTQ files into the SOPHiA DDM™ Platform, where they are analyzed and genomic instability scores are generated.
SOPHiA GENETICS were receptive to our suggestions to help optimize functionality for use in a clinical diagnostic setting. For example, updating the format and accessibility of reports to facilitate pairing the results with our in-house tBRCA reporting (RMH200, Roche analyzed using DRAGEN, Illumina) and LIMs system.
We have received good technical support when needed through the SOPHiA GENETICS JIRA system.
We are looking forward to future updates, including a web-based portal and automated download of result files for our clinical scientists to access with ease.
In the scope of this study, you compared GIInger™ and the SOPHiA DDM™ Dx HRD Solution. Could you please summarize the purpose and outcomes of this comparison?
The SOPHiA DDM™ Dx HRD Solution is a CE-marked HRD solution that utilizes SOPHiA GENETICS’ preferred chemistry for whole genome and capture library preparations. At Royal Marsden Hospital (RMH), we had previously implemented a robust NGS protocol (RMH200) capable of producing BRCA capture and low-copy whole genome libraries. To optimize operational efficiency, we decided to explore using our existing automated chemistry and library preparation workflow and opt for a bioinformatics solution to analyze the whole genome data for genomic instability to provide a HRD status.
To this end, 23 samples (previously tested via an orthogonal method) were sequenced using our in-house NGS chemistry and analyzed using GIInger™ paired with our in-house tBRCA calling and compared to the SOPHiA DDM™ Dx HRD Solution, which utilizes different chemistry and a full bioinformatics solution. Reassuringly, we found 100% concordance.
Thank you for sharing these insights with us! To conclude this spotlight, we would like you to share the key takeaways of this study.
Utilizing the SOPHiA GENETICS GIInger™ bioinformatics solution paired with our in-house RMH200 panel for tBRCA status, RMH successfully launched in-house HRD testing in December 2023. By April 1, 2024, we had tested 106 samples internally, achieving recent average turnaround times of less than 21 days.
The support provided by SOPHiA GENETICS has been sufficient and rapid, which has been invaluable during the first six months of this new service.
We would like to thank Elisabeth and Charlotte for their participation in this spotlight.
Learn more about:
SOPHiA DDM™ GIInger Genomic Integrity Solution
SOPHiA DDM™ Dx Homologous Recombination Deficiency (HRD) Solution
Disclaimer
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. The SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution is available as CE-IVD product for In Vitro Diagnostic Use in Europe and Turkey.
