select search filters
roundups & rapid reactions
before the headlines
Fiona fox's blog

expert reaction to study looking at cost-effectiveness and health impact of BRCA cancer gene testing in the general population

A paper, published in the journal Cancers, has looked at the cost-effectiveness and health impact of conducting BRCA cancer gene testing in the general population.


Prof Nora Pashayan, Professor of Applied Cancer Research, UCL, said:

“I think I understand why they observe such huge cost reduction and low ICER (incremental cost-effectiveness ratio). The authors have assumed that all those who test positive will develop the cancer and that having surgery would reduce 91%-96% of the ovarian and breast cancers. They also assume the cost of diagnosis and treatment is over 4 times than cost of surgical removal, and that diagnosis of cancer has more harm than undertaking mastectomy and oophorectomy. For the latter they have assumed harm from the procedure rather than lifetime implications of these surgical procedure on women’s wellbeing. So, the process of doing the economic evaluation in this study is by the book. However, the assumptions are different issue!

“Not everyone who has BRCA1/BRCA2 mutation will eventually develop breast or ovarian cancer. Offering treatment to all risks over treatment. This comes at financial and psychological cost. This should be accounted for.

“The age at which to test for BRCA1/2 and subsequent intervention have important implications – it has to be early enough before the initiation of the tumour to get the most benefit in intercepting cancer development and gaining max benefit in cancer mortality reduction; however this comes at a cost – the earlier the testing and intervention, the higher the risk of negative implications – psychosocial like family planning and complications like CHD.”


Sir John Burn MD FMedSci, Professor of Clinical Genetics, Newcastle University, said:

“This is a valuable analysis by a highly respected team. It is helpful to have these figures as we work to improve the care of people with hereditary disorders who make up more than 5% of the population and carry a heavy health burden. The focus on hereditary breast and ovarian cancer is not surprising given the team’s long term efforts in prevention strategies though the use of the Jewish community needs caution. A handful of variants predict BRCA cancers in Ashkenazi Jewish populations and there is a high frequency of the variants in high income communities. Engagement more widely will take much more effort.

“Looking beyond the knee jerk anxiety of inadequate consent and counselling and the significant burden of the current interventions, it is clear that routine testing for actionable dominant disorders will no longer be constrained by technical constraints. I co-chair the Global Alliance BRCA Challenge ( which has now gathered almost 40,000 variants in these two genes, most of which are of uncertain significance, unlike in the Jewish community. We need to invest now in effective data sharing to understand their relevance and avoid inappropriate intervention.

“Let’s also remember that hereditary colorectal cancer is just as common and easier to prevent and treat so the list of genes must also include the four mismatch repair genes.”


Prof Justin Stebbing, Professor of Cancer Medicine and Medical Oncology, Imperial College London, said:

“We know that changes in one’s own BRCA genes predispose people to breast and ovarian cancer. This research is interesting as they looked at both cost-effectiveness of this screening and they included healthcare systems from less developed countries, exploring the cost-effectiveness of BRCA testing on a population level. They show that population-based BRCA-testing is extremely cost-effective in high (UK/USA/Holland) and upper-middle income health systems (China/Brazil) but the costs of the tests need to fall further for there to be benefits in lower income countries (India). Potentially, identifying these people could prevent tens of thousands of deaths from these two cancers, but further research is needed here. Encouragingly tests are now more sensitive and specific than ever before, meaning false positives/negatives are rare even at a population level.”


Prof Shirley Hodgson, Professor of Cancer Genetics, St George’s, University of London (SGUL), said:

“This is an interesting and important paper from a well-established research group. The issue of population testing for BRCA1/BRCA2 mutations has been debated for some time, and can be advocated if the cost/benefit ratio is favourable, and the counselling for the women tested can be provided.

“This study relies on many assumptions about the availability of screening and prophylactic measures for women who are found to carry mutations in these genes, and the prevailing opinions about uptake of such measures, which differs in different countries.

“This study is an important exercise in considering the appropriateness of offering population screening from the point of view of health service planning, considering the prospect of saving many lives from early onset cancers that would otherwise remain undetected in untested susceptible women. It is of considerable interest to see the different predicted cost-effectiveness in countries of different Income levels.

“This study is essentially based on predictive modelling and will be subject to bias, but the general model for this assessment is realistic, and it is helpful as an exercise in the evaluation of whether such population testing is appropriate.

“The main omission is the consideration of how roll out of such testing could be managed, particularly in view of the need for genetic counselling of the individuals tested, the ascertainment of at risks relatives of individuals testing positive for mutations, and counselling and testing for such relatives.”



‘Economic Evaluation of Population-based BRCA1/BRCA2 Mutation Testing across multiple countries and Health systems’ by Ranjit Manchanda et al. was published in Cancers on Friday 17 July 2020.


Declared interests

Prof Shirley Hodgson: “I have no conflicts of interest.”

None others received.

in this section

filter RoundUps by year

search by tag