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Staying a step ahead of breast cancer with data-driven medicine

This article is a part of BG BrandLab’s Breast Cancer Special Report, assessing the progress we’ve made in the battle against breast cancer and the barriers that we still need to overcome.

Undergoing a double mastectomy as a preventative measure can be a very difficult and personal decision. It was one that the whole world experienced alongside Oscar-winning actress Angelina Jolie when she quite publicly made her decision known in 2015. Through genetic testing, Jolie discovered she was predisposed to developing breast cancer, just like her mother and aunt. This clinical test gave her a new level of awareness about her health and changed her life forever. In this case, the doctor was in the position to provide her with preventive measures. However, Angelina Jolie is not an isolated case.

While women with close relatives who have been diagnosed with breast cancer are at a higher risk of developing the disease, only about 5-10% of breast cancer cases are thought to be hereditary. For those patients at increased risk of developing the cancer, a comprehensive test for detecting mutations on BRCA1/2 and other well-known genes linked to the disease is crucial and will determine risk level. But most women are uninformed as to whether they are at risk for developing breast cancer.

The vast majority (90-95%) of breast cancer cases arise in women with no apparent close family history, making it more difficult to assess if they should be tested or not. This means there is an opportunity to do better in the way that we help them. Thanks to technological advances and innovative data-driven medicine approaches, risk assessment measures now exist for all women. Through a simple test that can be done by a gynecologist, the evaluation of the risk—a person’s predisposition to develop breast cancer—can be assessed within a few weeks. The test gathers two types of information: a genomic profile and other modifiable risk factors, such as hormone replacement therapy and body mass index.

Empowering informed decision-making

One Boston-based technology company is at the forefront of the breast cancer fight. SOPHiA GENETICS is listed amongst the 50 smartest companies worldwide by the MIT Tech Review. Their mission is to democratize data-driven medicine globally. The company is already working with 1,000 healthcare institutions in 82 countries. Its AI-based platform, SOPHiA, is already used to help healthcare professionals better detect and understand genomic predisposition of developing cancer even faster. Through an innovative multi-data source approach, SOPHiA helps experts make sense of clinical data, empowering more informed decision-making.

For women with a family history of breast cancer, SOPHiA GENETICS developed a robust genomic application that analyzes the most frequently mutated genes starting from a blood sample. The presence of inherited mutations in these genes implies an increased risk of developing breast cancer. A positive result, however, doesn’t mean they will ultimately develop cancer. Follow-up care after a positive test result might include taking specific measures to modify the type and frequency of screening and define the appropriate preventive strategy. This depends on many factors including age, medical history, prior treatments, past surgeries, and personal preferences.

Women who don’t carry an inherited mutation rely exclusively on mammogram screenings as their preventive measure. Mammograms are often recommended to women around the age of 50, and participation rates in mammography screening programs are low. Women shouldn’t have to wait until then to know if they’re at risk for developing breast cancer. In fact, about half of all breast cancer patients develop the disease outside of the period of ages 50-69 and could greatly benefit from earlier detection. Today, we know that age alone is not enough to accurately estimate breast cancer risk.

“We had all these women in mind while designing an innovative non-invasive approach, based on 10 years of study, partly done in Boston. It combines frequent genetic variations derived from a simple saliva sample with personal information. This includes factors like age, weight, and alcohol consumption to create an individual risk score compared to the general population. As a result, through our simple test, physicians can support personalized screening plans for their patients. We are putting more precise information in the hands of physicians, this way they can understand, interpret, and most importantly, communicate risk to all women,” says David Cox, clinical application product manager at SOPHiA GENETICS.

Better screening—for everyone

Men can also be at risk for breast cancer. Examinations for men are often uncommon unless there’s apparent reason to screen. It’s important that men are just as knowledgeable about their genomic profiles as women. Recent studies have shown that men with BRCA mutations may have eight times as many cancers than what would be expected in the general population. Luckily, genomic profiling options offered by SOPHiA can detect BRCA and many other cancer-causing gene mutations for everyone.

The path to your personal care starts with preventative measures that go beyond traditional means. Thanks to new technologies propelling data-driven medicine, a new era of preventative care could help you and your doctor stay a step ahead of cancer.


SOPHiA GENETICS is a health tech company that developed SOPHiA, an advanced AI technology helping healthcare professionals make sense of the large amount of clinical data. SOPHiA GENETICS is democratizing data-driven medicine by enabling the rapid adoption of genomic and radiomic analysis worldwide, turning data into actionable insights, and sharing knowledge through its community of healthcare institutions in 82 countries in a sustainable and inclusive way. The company’s achievements and innovative approach is recognized by the MIT Technology Review’s “50 Smartest Companies.”

This content was written by the advertiser and edited by Studio/B to uphold The Boston Globe's content standards. The news and editorial departments of The Boston Globe had no role in its writing, production, or display.