Causing over 140,000 deaths per annum across the globe, ovarian cancer is the seventh most prevalent cancer in women. Researchers are trying to find novel diagnosis and treatments for the killer disease and have recently devised a mechanism that simplifies access to gene testing for women with ovarian cancer.

This robust genetic testing streamlined approach claims to provide rapid and cost effective means that will help with personalized cancer management by yielding improved treatment results. In this new devised testing mechanism, the genetic testing was offered as part of the routine cancer clinic appointment. However, previously the whole procedure was time consuming and required multiple hospital visits. Developed by researchers at the Institute of Cancer Research, London, in collaboration with Wellcome Trust-funded Mainstreaming Cancer Genetics program, the successful results from the pilot study were disclosed today, 13th July. The findings of the pilot study were published in the journal Scientific Reports.

About 15% of the ovarian cancer cases are caused by germline mutations in BRCA1 and/or BRCA2 genes which also pose a potential risk upon the patient’s family members to developing ovarian cancer later in life. Conducted at the Royal Marsden NHS Foundation Trust, in the pilot study BRCA gene testing was offered to 207 women who suffered from ovarian cancer. The study was jointly supported by the NIHR Biomedical Research Centre at the Royal Marsden and the Institute of Cancer Research (ICR).

It is worth noting that the genetic testing for BRCA gene aberrations was not pioneered in this study but only the mechanism for the deliverance of the test was changed.

Previously, the recommendations for including BRAC testing in ovarian cancer patients were not met with the desired results. As a result only 15-30% test eligible patients were offered the test in the UK. This process was not only time consuming but was also expensive. On the contrary, the new testing pathway showed that national expenditure for all ovarian cancer patients would cost as low as per quality-adjusted life year as opposed to the NHS cost threshold value of £20,000.

Most importantly, due to the rapid testing offered at the clinics, timely decisions are allowed to be made for every individual patient.

Delving into the matter, the underlying causes leading to disappointing statistics showed flaws in the previously adopted testing mechanism. Previously, after the doctor’s appointment, the test eligible patients were referred to a genetic team at another center.

Interestingly, the new testing methodology was accepted by all 207 study participants and a significant majority returned positive feedbacks.

Out of these patients, those who were carrying a BRCA gene mutation were automatically scheduled for an appointment with the genetic team for discussing further disease details, treatment implications and likelihood of a family member to be carrying the gene variant.

The test results were useful for deciding the course of treatment for four-fifths of the patients. 33 (16%) women were carrying the BRCA gene variants who were directed to precision medicine which was effective only against cancer patients with the gene variant. Additionally, the results helped with informed management for 121 women who had an active cancer.

The researchers showed that the new testing pathways reduced the time consumption by fourfold and resource spending by 13 folds.

It was also found that for every patient with the BRCA gene mutation, on an average three family members were encouraged to meet a geneticist to see how the results of their family member were relevant to their risk of cancer.

One of the participants, Preeti Dudakia, 49, said she was satisfied with the way her case was handled by the team of cancer experts. After receiving positive test results for the gene mutation, she was given a highly specified treatment which was only effective against gene mutation induced ovarian cancer. She further added that her mother also suffered ovarian cancer and if this testing facility was available at her time of diagnosis, Preeti would have also been aware of the fact that she carried the mutated gene. She admitted that prior knowledge about the risk would have changed the tracks of her life today.

Study leader Professor Nazneen Rahman, Head of Cancer Genetics at the Institute of Cancer Research, London, said ,”We know BRCA gene testing can be greatly beneficial for women with ovarian cancer, allowing their care to be tailored to their individual genetic information, and improving the cancer risk information we can provide to their families.”

Professor Martin Gore, Consultant Medical Oncologist at the Royal Marsden NHS Foundation Trust, was happy to see the clinical success of the study and he hoped for the testing mechanism to be adopted at a larger scale.

This simpler, faster and better designed testing mechanism will cater to the medical needs of over 7,000 women who are annually diagnosed with ovarian cancer in UK. Offering them with personalized cancer management treatment, the disease progression is likely to be confined to non lethal stages in future.