A SCOTTISH research paper has shown how individual genetics and precision medicine could play a role in improving patient outcomes.
Improving the knowledge of genetic variants that predict how women with ovarian cancer will respond to prescribed drugs can make a difference in treating the disease.
Precision Medicine Scotland Innovation Centre’s (PMS-IC) work into genome sequencing could create more treatment options for women with the disease.
The paper, published in Clinical Cancer Research was written by Ailith Ewing and supported through the PMS-IC AstraZenica alliance work with researchers from Aberdeen, Dundee, Glasgow and Edinburgh.
All parties contributed to the delivery of the project.
The results expand on the understanding of the mutations that take place causing homologous recombination deficiency (HRD).
This deficiency reduces the ability of a woman to repair cells, the majority of women with high grade serous 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 light on the mutational landscape underlying HRD but also increase the number of patients predicted to benefit from therapies exploiting HRD.
It suggests there is currently untapped potential in detecting variants when examining the data of the patient.
Marian McNeil, Chief Executive, Precision Medicine Scotland Innovation Centre, explains: “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.
