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Genetics and the future of breast cancer assessment

by John R. Fischer, Senior Reporter | July 16, 2019
Women's Health
Pam Cumming
From the July 2019 issue of HealthCare Business News magazine

You don’t need a medical degree to know that no two women are exactly alike. This variability, understood through the lens of genetics, is of particular importance when considering a woman’s health, especially her risk for developing breast cancer. It is also one of the main factors driving the shift toward more personalized forms of care, according to Pam Cumming, senior director of women’s health for Siemens Healthineers North America.

“Every day we hear more about genetics, and what impact that they can have on breast cancer risk,” she told HCB News. “Personalized risk assessment provides more insight into how a woman’s health might be affected by family history and other factors, which, in turn, can influence more personalized screening and treatment pathways.”

Performing these individualized evaluations requires a diverse set of tools, from traditional mammography to tomosynthesis to breast MR and ultrasound. All have evolved in various ways over the years and are expected to continue to do so well into the future.

3D breast tomosynthesis technology, for instance, has been proved to increase cancer detection rates, reduce callbacks, and eliminate the need for many additional diagnostic work-ups and biopsies.

“We want to find cancer as early as possible, before it has metastasized, it is more easily treated and the survival rates are almost 100 percent,” said Cumming. “The impact on a woman, her life and her family is more manageable. So, our focus will continue to be finding ways to overcome the limitations of mammography.”

Evolving technology, however, is just one part of the transition to more personalized care, the other being awareness and understanding. For instance, while 38 states have passed legislation requiring breast density information to be included in mammography reports, the laws vary in the way density information is conveyed to women.

Cumming, however, sees this changing, following the recent passage of the federal mandate to standardize density reporting language to be included in both the provider and the patient lay letter. The language explains the effect of breast density in masking cancer, provides a qualitative assessment of density, and includes a reminder to women with dense tissue to talk with their healthcare providers. Cumming expects this nationwide enactment to help women understand the risks of breast density in relation to cancer more clearly, so they can follow-up.

“The next step is to educate referring physicians so they know how to have conversations with women as well,” she said. “We have some work to do there, but I think with the federal government and the FDA stepping in to make sure we are providing the right information and the right wording so women can understand what that means to them and what to be thinking about for their own healthcare is huge.”

While not certain of the exact solutions, viewpoints and techniques that will be adopted in the future for breast cancer detection, Cumming says much possibility exists and that we are only beginning to dip our toe in the water.

“We know liquid biopsy is a discussion. Can we just look at the blood and determine whether or not cancer is present? Treatment pathways looking at different proteins is another. For women who are undergoing treatment, we can ask ourselves, ‘Is this working for you, or do we have to do something else?’ Our genetic self can definitely change the way each individual woman is screened.”

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