Ovarian cancer monitoring in women with faulty BRCA genes results in earlier diagnosis for those deferring preventive surgery
Rosie Lapsley, who inherited a BRCA1 gene fault from her mum
New research published in the Journal of Medical Genetics has found that regularly monitoring women with faulty BRCA genes that put them at an increased risk of ovarian cancer, results in earlier diagnosis in those who want to delay preventive surgery and could save the NHS thousands in treatment costs.
Women in the general population have around a 2% risk of developing ovarian cancer in their life, whereas for a woman with a BRCA1 or BRCA2 fault, this risk is increased to up to 65% (such as women like Rosie, pictured, who inherited a BRCA1 gene fault from her mum). Faulty BRCA gene carriers are advised to have preventive surgery from the age of 35 (BRCA1) or 40 (BRCA2) onwards to prevent the disease.
Preventative surgery (bilateral salpingo-oophorectomy) involves the removal of both ovaries and the fallopian tubes, which connect the ovaries to the womb. However, this procedure results in infertility and premature menopause, which means that between 20% and 40% of affected women delay or don’t have the surgery, leaving them at risk.
The Risk of Ovarian Cancer Algorithm (ROCA) test calculates the probability of ovarian and fallopian tube cancer, using an algorithm which measures the rate at which the level of a blood protein called CA125 changes over time, to triage women into different risk groups.
ROCA’s use in clinical trials showed there was less need for chemotherapy before surgery, fewer major surgical interventions, and lower risk of wider disease spread. These findings led to a national Avoiding Late Diagnosis of Ovarian Cancer (ALDO) pilot being set up to find out if the clinical trial findings could be reproduced in the ‘real world’ and if the approach was cost-effective.
Women from England and Wales with BRCA1 and BRCA2 faulty genes, aged 35-85, who had not had their ovaries and fallopian tubes took part in the pilot. The pilot involved a ROCA test every four months between 5th October 2018 and 30th November 2020.
The sensitivity of the ROCA test to accurately pick up those with cancer was 87%, and the accuracy of picking up those without cancer was just under 100%. ROCA surveillance was predicted to increase the amount of time each woman with ovarian cancer enjoyed a good quality of life by around two months and gave a treatment cost saving of around £100,000 for each woman.
Whilst these results of the pilot are encouraging, it is important to note that regular monitoring using the ROCA test is not available on the NHS, and preventive surgery remains the only effective way of avoiding ovarian cancer.