Value of Genetic Testing in Breast Cancer

Published Online: December 26, 2013
Katie Sullivan
The value of genetic testing in breast cancer is subject to debate, but it also holds promise. One recent clinical trial simulated by a group of researchers, for instance, found that the 7 single-nucleotide polymorphisms (7SNP) genetic test for breast cancer was cost-effective when used for MRI screenings in patients at intermediate risk of developing the disease over their lifetime.

“This study further illustrates that risk modeling may provide information that will enable physicians to better determine a patient’s risk of disease and more appropriately allocate resources that will be beneficial,” said Tuan Dinh, PhD, vice president of analytics and modeling at Archimedes and one of the authors of research study.

Other recent research, led by Peter Beitsch, MD, a breast surgeon at Medical City Dallas Hospital, found that advanced genomic testing can predict how a breast cancer patient might respond to chemotherapy before surgery. The tests for the study—MammaPrint and BluePrint—are unique in that they look at genes inside of breast cancer and how they function, unlike other tests such as those for BRCA genes, which only look for likelihood of a patient developing breast cancer.

“These results should be encouraging to patients and their physicians,” said Dr Beitsch. “Physicians are now better able to determine whether a woman has the type of cancer that will respond to chemotherapy, or whether she can safely be treated with surgery and hormonal treatment alone.”

However, studies like these can be limiting. Historically, most research on the economic value of genetic testing in breast cancer has relied on modeling rather than translational research. Robert D. Lieberthal, PhD, of the Jefferson Population Health Continuing Professional Education Collaborative, argues that with breast cancer costing the nation $13.9 billion a year, researchers and other healthcare professionals should look to gather data from “real-world” settings.

“The cooperation of multiple stakeholders will be essential if genomic medicine is to reach its full potential. The barrier to progress for genomic medicine is the lack of empirical evidence for the clinical utility and value of genomic testing,” says Dr Lieberthal. “Currently, policy makers must evaluate these promising new technologies without full information. Additional economic evaluations can serve to reduce the regulatory uncertainty regarding a disease that affects many women, their families, and their communities.”

Around the Web

Novel Genetic Test For Breast Cancer May Guide MRI Screening In Women With Intermediate Lifetime Risk [Forbes]

Breast Cancer Study: Genomic Tests Better Predict Chemo Response [Business Wire]