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BRCA1/2 Population Screening Predicted to be Cost-Effective in Countries With Different Income Levels

NEW YORK – An analysis from an international team suggests testing for pathogenic BRCA1/2 variants in women from the general population would be cost-effective for half a dozen countries with a range of income levels, while preventing a significant number of breast and ovarian cancer cases and deaths.

For the analysis published in the journal Cancers on Friday, researchers from Queen Mary University of London, the London School of Hygiene and Tropical Medicine, and elsewhere modeled the costs of universal BRCA1/2 germline testing on women who are at least 30 years old — from a societal and health system payer perspective, based on available World Health Organization guidelines — in the UK, US, India, Brazil, the Netherlands, and China, and estimated the impact of a broad screening approach on breast and ovarian cancer cases and associated deaths.

Together, the team's modeling indicated that population-wide BRCA1/2 testing would be particularly cost-effective for health systems or payors, and from a societal perspective in the high- and middle/upper middle-income countries considered, though the current estimates suggested that societal cost-effectiveness in a lower-income context, such as India, could only be achieved if BRCA1/2 testing can be done for $172 or less.

"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," first author Ranjit Manchanda, a preventive medicine, gynecological oncology, and population health sciences researcher affiliated with Queen Mary University of London, the Royal London Hospital, and University College London, said in a statement. "This approach can ensure that more women can take preventative action to reduce their cancer risk or undertake regular screening."

Based on the results, Manchanda argued that, "[s]trategies and pathways for population testing must be developed to enable population genomics to achieve its potential for maximising early detection and cancer prevention." 

The team noted that more than half of individuals who carry BRCA1 or BRCA2 germline variants implicated in breast or ovarian cancer do not have the requisite personal or family history of cancer that current guidelines and healthcare systems use to determine who should receive genetic testing. Moreover, based on those guidelines, which can be complex, only 20 percent of eligible US women have been tested and more than 97 percent of BRCA1/2 mutation carriers in the UK remain unidentified, the authors wrote. 

As such, the authors and other genetics researchers, such as University of Washington's Mary-Claire King, have been advocating for a population screening approach to improve identification of carriers of pathogenic BRCA1/2 variants.

To explore that possibility, the researchers used several modeling approaches to assess current clinical testing guidelines in high-, upper middle-, and low-income countries compared to the estimated cost-effectiveness and clinical consequences of expanding that testing to the general population.

The team took into account breast and ovarian cancer outcomes for BRCA1/2 mutations carriers who received appropriate screening and preventive interventions after learning of their carrier status, together with the impact on individuals' quality-adjusted life years, and related cost-effectiveness consequences.

Along with a boost in societal and health system/payor-related cost-effectiveness in the UK, US, Netherlands, China, and Brazil, the researchers' estimated that new breast and ovarian cancer cases would decline with the broader testing strategy. For example, they projected a dip of around 5,900 deaths apiece from breast and ovarian cancer in the UK to nearly 121,400 breast cancer deaths and more than 87,100 ovarian cancer deaths that may be prevented in China.

More broadly, such universal testing would be expected to prevent between 2,319 and nearly 2,700 breast cancer cases for every one million women, along with anywhere from 327 to 449 ovarian cancers per million women, the team reported.

"Our analysis shows that testing all women for BRCA mutations is a more cost-effective strategy which can prevent these cancers in high risk women and save lives," senior author Rosa Legood, a health services research and policy researcher at the London School of Hygiene and Tropical Medicine, said in a statement. "This approach has important implications given the effective options that are available for breast and ovarian cancer risk management and prevention for women at increased risk."

The work follows from earlier cost-effectiveness research from the same team, including a 2019 study in JAMA Oncology that estimated the effects of germline BRCA1/2 testing for unselected individuals with breast cancer in the UK and US.