Ground breaking Scottish research paper shows how individual genetics and precision medicine can help patient outcomes

Looking at a genome

IMPROVING the knowledge of genetic variants that predict how women with ovarian cancer will respond to prescribed drugs can make a crucial difference in treating the disease.  During Ovarian Cancer Awareness Month, Precision Medicine Scotland Innovation Centre (PMS-IC) is highlighting an important paper showing how its work into genome sequencing can create more treatment options for women with the disease. 

Published in Clinical Cancer Research by Ailith Ewing, the research was supported through the PMS-IC AstraZeneca alliance work with researchers from Aberdeen, Dundee, Glasgow and Edinburgh.  All the parties contributed to the delivery of the project.   

The results extend the understanding of the mutations that take place to cause homologous recombination deficiency (HRD).  This deficiency reduces the ability for a woman to repair cells and the majority of women with high-grade serious ovarian cancer have HRD.  The paper examines the Structural Variants at the BRCA1/2 genes that are a common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma. 

The paper’s findings not only shed a light on the mutational landscape underlying HRD, but also increase the number of patients predicted to benefit from therapies exploiting HRD, and suggest there is currently untapped potential in detecting variants when examining the data of the patient population.  

Marian McNeil, Chief Executive, Precision Medicine Scotland Innovation Centre, explained: 

“This research paper shows that precision medicine has a key role to play in improving the outlook for patients with ovarian cancer.   The disease is often diagnosed at a late stage and for this reason the prognosis is poor.   We were able to fund the first stages of this project and also to offer sequencing expertise to discover how women with certain genomes would respond to treatment.  This allows clinicians to prescribe treatment or recommend clinical trials that will be most effective based on the genetic makeup of the individual patient.  

“The team in place in Scotland is now gaining interest from pharmaceutical companies and, thanks to our support and enablement, has secured further funding to continue its research.   This project demonstrates the importance of collaboration and how sequencing will allow better decisions to be made when treating ovarian cancer.  Creating efficient, accurate and timely care to patients and more cost effective for the NHS.”

There are 7,500 new ovarian cancer cases recorded in the UK every year.   Cancer is the silent killer of one third of women in the first year after diagnosis.   It is often diagnosed at a later stage because its symptoms – abdominal pain – can be mistaken for other less harmful conditions.  

Ailith Ewing is an UKRI Innovation Fellow who works as part of Professor Charlie Gourley’s team at MRC Human Genetics Unit & CRUK Edinburgh Centre. 

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