Multigene testing may improve life expectancy in those at risk for hereditary breast cancer

By Liz Meszaros, MDLinx
Published April 18, 2017

Key Takeaways

Compared with traditional multigene testing for two genes, testing for variants in seven cancer-associated genes, followed by risk-reduction management, may be a cost-effective way to improve life expectancy in women who are at risk for hereditary breast cancer, according to results from a study published in the April 2017 issue of Value in Health.

For their research, these authors used hypothetical cohorts of women at risk for hereditary breast cancer, and applied a decision-analytic model to compare relative cost and efficacy of the two different test strategies in detecting pathogenic gene variants. The first strategy was the usual BRCA1/2 testing, and the second involved a next-generation 7-gene strategy testing for variants in BRCA1 and BRCA2, as well as in TP53, TEN, CDH1, STK11, and PALB2. Test results were then used to select appropriate breast cancer risk reduction treatment.

In the base-case scenario for 40-and 50-year-old women, the incremental cost-effectiveness ratio (ICER) for the BRCA1/2 test strategy was $23,734 per life-year gained, compared with $42,067 for the 7-gene test strategy. This translated to $48,328 vs $69,920, respectively, per quality-adjusted life-year gained.

According to guidelines from the World Health Organization, these ICER levels are considered cost effective, even for the 7-gene test strategy.

"Pathogenic variants in the BRCA1 and BRCA2 genes explain only about 15% of the breast cancer familial relative risk,” said lead author Yonghong Li, PhD, Quest Diagnostics, USA, “while pathogenic variants in other genes, including TP53, PTEN, CDH1, and PALB2 contribute further to the familial relative risk. The results of this study demonstrate the potential value of newer testing options that allow for the simultaneous analysis of expanded panels of additional genes whose pathogenic variants confer moderate to high risk for breast cancer,” added Dr. Li.

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