Article for Question #3

Certain variants of the BRCA1 and BRCA2 genes are well recognized to raise a woman's risk of inherited breast cancer. A growing body of research finds that five lesser-known genes, including TP53 and PTEN, also raise this risk, according to a study published in the April 2017 issue of Value in Health, the journal of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR).

Researchers at Quest Diagnostics developed a decision-making model for hypothetical cohorts of 50-year-old and 40-year-old asymptomatic women with a family history of breast or ovarian cancer or other hereditary syndromes. The model compared two strategies for detecting pathogenic genetic variants and using the test result to select appropriate breast cancer risk reduction: the usual care strategy tests for variants in the BRCA1 and BRCA2 genes and the other strategy tests for variants in the BRCA1, BRCA2, TP53, PTEN, CDH1, STK11, and PALB2 genes (seven-gene testing). The risk-reduction procedures are those recommended by National Comprehensive Cancer Network guidelines, and the probabilities of breast cancer and death used in the model are based on the peer reviewed literature.

Investigators found that based on the computer modeling, genetic testing for these five genes and BRCA1 and BRCA2 could yield better health outcomes and good economic value than would testing of the two BRCA genes alone.

"Genetic testing of five additional genes known to confer increased risk of hereditary breast cancer along with BRCA1/2 testing provides health and economic benefits beyond BRCA1/2 testing alone," says lead study author Yonghong Li, PhD, principal scientist, Quest Diagnostics.

Specifically, when factoring in risk-reducing surgery, the impact of enhanced surveillance, or both, hypothetical cohorts of 40- and 50-year-old women undergoing genetic testing with the seven-gene panel would result in an incremental cost-effectiveness ratio (ICER) of $23,734 and $42,067 per life-year gained compared with BRCA1/2 testing alone, according to the study.

By comparison, the estimated ICER for annual MRI for high-risk women is about $179,600.

Question #3

Use the following article extract to answer these questions:

a)What kind of analysis is the study undertaking (be specific!)

b)Interpret the ICERs for the seven-gene panel (age 40, age 50) and MRIs for high-risk women.

c)Which interventions would you recommend and why?

d)How would you use this information in health care decision-making and why?