Large-scale BRCA testing within the general population and across multiple healthcare systems could prevent millions of breast and ovarian cancer cases globally compared to the current clinical strategy, according to a new international study published in Cancers.
The research, conducted in collaboration with the London School of Hygiene and Tropical Medicine and led by Queen Mary University of London (QMUL), also shows that this broader strategy is cost-effective in high and upper-middle income countries.
The most well-known inherited genetic causes of breast and ovarian cancer are the BRCA genes – BRCA1 and BRCA2 – which account for 10-20% of ovarian cancers and 6% of breast cancers. Identifying individuals within the population with these genetic variants could enable preventative strategies to be put in place, for example, medication, prophylactic surgery, or increased screening.
The current strategy uses an established clinical-criteria/family-history based approach, whereby only high-risk individuals, such as those with clinical criteria or those with extensive family history of breast or ovarian cancer, will be eligible for BRCA testing. However, over 50% of BRCA carriers do not meet the clinical criteria and are therefore missed, with over 97% of BRCA carriers in the UK remaining unidentified.
Nonetheless, this recent study demonstrated that these limitations can be overcome by a paradigm shift towards unrestricted population-based BRCA testing. The researchers, using Markov modelling, looked at the lifetime costs and effects of BRCA testing on a general population compared to that of the current clinical strategy. They achieved this by looking at both payer and societal perspectives in countries considered high income (UK/USA/Netherlands), upper-middle income (China/Brazil) and low-middle income (India). A payer perspective takes into account medical costs incurred by either the health system or health providers, i.e., costs of testing, screening, prevention and treatment; whereas, a societal perspective looks at costs in terms of the impact of income from inability to work and shorter lifespans due to cancer.
The team at QMUL demonstrated that a population-based approach is cost-effective for high and upper-middle income countries, from both a societal and payer perspective. However, from a societal perspective, testing would need to fall to $172/test to be cost-effective in low-income countries such as India. The findings suggest that this type of screening could prevent an additional 2319 to 2666 breast cancer and 327 to 449 ovarian cases per million women than the current clinical strategy.
Lead researcher Professor Ranjit Manchanda from QMUL stated:
“Our findings are important, as we show that a new population-based approach can have much broader global applicability and a far greater impact on breast and ovarian cancer burden in the population than current treatment strategies.
With the costs of testing falling, this can provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing. This approach can ensure that more women can take preventative action to reduce their cancer risk or undertake regular screening.”
This study has highlighted the importance of conducting societal and economic cost-effectiveness evaluations globally to help inform health policy decision-making. With rapid technological advancements, falling costs as well as increased awareness and acceptability of genetic testing in society, this study provides timely insight into the benefits of implementing large-scale population testing to aid in early detection and cancer prevention.
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