It’s not easy even for experts to pull useful insights from complex datasets. It’s even harder when the machine learning tools they’re using are only trained to work within a single nation, region, or more specifically, racial population.

Consider the recent popular Netflix documentary Coded Bias. MIT Media Lab researcher Joy Buolamwini discovered that facial recognition does not see dark-skinned faces accurately. She’s pushed for legislation in the US to govern against bias in algorithms. It’s a real problem that many in healthcare are now facing as the use of artificial intelligence in health data analysis becomes more and more prevalent and clinically useful. But the same push for diversity in machine learning reference for health data has been lacking throughout the industry. For this reason, and for the reasons you’ll learn from just one case study below, SOPHiA GENETICS has taken a decentralized and global approach for more than a decade.

A family without answers

A Moroccan couple living in Spain had suffered one of the worst human experiences, not just once, but twice. As they began to expand their new family, they had three pregnancies throughout the span of about one decade. Only one of their children, a healthy baby girl born in 2012, survived. One boy lived for 43 days, and one girl lived only for 20. The immense grief that this brings to parents is immeasurable, and the only thing nearly as horrible than the actual experience of loss is having a lack of answers – never knowing why.

After the death of their infant boy in 2019, the couple worked with regional medical experts in Spain to try and discover the root cause of what seemed to be neurodevelopmental disorders at birth. Researchers started by performing clinical exome sequencing and targeted gene analysis including a Microarray-based Comparative Genomic Hybridization test to look for any abnormalities that would possibly provide more clues. Much to their dismay, the results were inconclusive. The standard of care and testing used at the time were letting them down.

In 2022, they were able to perform more advanced testing after the death of their second daughter. This included TRIO analysis with the SOPHiA DDM platform. TRIO analysis takes clinical exome testing to a deeper level by analyzing data from the infants as well as both parents, giving researchers a better picture of familial, inherited genomic traits. The results finally confirmed that both parents carried a heterozygous frameshift variant. It was inherited by their infants as a homozygous pathogenic variant in the SMPD4 gene, causing neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies in the children. While identifying causative variants in recessive genes is challenging through conventional clinical testing, the SOPHiA DDM™ platform’s TRIO analysis enabled the researchers to overcome this limitation.

This family is now better informed about their risk of potential complications in future pregnancies. They’re able to work with genetic counselors to seek guidance regarding family planning that takes the anxiety out of the unknown.

Why diversity matters

In this case, it wasn’t just the type of testing that resulted in a successful discovery. Because SOPHiA GENETICS has worked on a global scale since inception (unlike more common approaches), the SOPHiA DDM platform’s machine learning algorithms have been better trained to analyze the health data of more diverse populations. Meaning, no matter where in the world this family had been trying to seek answers, their clinical researchers would have benefited from more accurate analysis of data that reflected who they are at the core of their genomes.

Every person is unique. We can clearly see this within the more than one million genomic profiles analyzed by our technology. This is why since day one SOPHiA GENETICS has adopted a global approach and placed it at the core of our company’s DNA. We strive to enable better research and health data analytics for all, no matter where they live or where they come from.

If you’d like to learn more about the SOPHiA DDM platform, contact us for a demo or learn more by exploring the many resources of our website.

This week, President Joe Biden described his plans to supercharge the American Cancer Moonshot to significantly cut the cancer death rate in half over the next 25 years. In a White House news conference Wednesday, he challenged the medical research community to come together in new, data-driven, collaborative efforts.

SOPHiA GENETICS supports democratizing data-driven medicine for the ultimate benefit of patients and their loved ones. We continue to deliver to our global community by advancing their cancer research capabilities through our technology and our amazing people who work closely with researchers every day.

Why the priority for cancer research now?

Fewer people are visiting their doctors. This means it’s less likely they’re catching the early signs of cancer that their physician could help discover from screening.

During the COVID-19 global pandemic, a Harvard Gazette report showed that there was a sharp decline in routine cancer screening. Some projections showed that in the next five years, the death rate related to cancer could be 4-17% higher because of the limitations brought on by the pandemic. Reports showed decreases of 85-90% and more than 9.5 million missed cancer screenings in the United States, according to facts released from the White House in early February. President Biden said during Wednesday’s press conference that this tide must be turned and that proper cancer screening of Americans must be prioritized.

New approaches

While the American Cancer Moonshot was originally launched in 2016, this new commitment to advancing American healthcare comes with more federal support for research and development through emerging technologies. The idea is that more progress can be achieved through data-sharing initiatives, breaking through traditional silos between medical institutions.

Many advancements in research have allowed for genomic biomarkers to play a larger role in identifying early signs of certain cancers. Those advancements can lead to earlier detection rates and the development of better cancer therapies and treatments. The President acknowledged that the US still has much further to come in advancing data-driven initiatives and that many Americans sadly do not realize the struggle of seeking answers during the cancer diagnostic journey until it’s too late. A proposal was also announced for the creation of an Advanced Research Projects Agency for Health (ARPA-H)  that would focus on the U.S. government’s capabilities “to speed research that can improve the health of all Americans”.

Data-Driven Solutions

SOPHiA GENETICS is committed to enhancing clinical research through advanced analysis of medical data through the SOPHiA DDM^TM Platform. By enabling faster, more cost effective, and highly accurate data analysis, we continue to make the greatest impact for users who must comb through extremely large sets of clinical data to derive impactful insights that will aid their research.

If you’d like to learn more about how our technology can help improve clinical research, click here.

Undergoing a double mastectomy as a preventative measure can be a very difficult and personal decision. It was one that the whole world experienced with 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.

Women with close relatives who have been diagnosed with breast cancer are at a higher risk of developing the disease, and about 5-10% of breast cancer cases are thought to be hereditary. For those patients at increased risk of developing the disease, a comprehensive test for detecting mutations on BRCA1/2 and other well-known genes linked to breast cancer 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 improve the ways that they can learn about their predisposition. Thanks to technological advances and innovative data-driven medicine approaches, risk assessment measures now exist for all women. Through a simple test, the evaluation of the risk—a person’s predisposition to develop breast cancer—can be researched within a few weeks. In addition to Breast Cancer, many other hereditary cancers can be further analyzed.

Empowering informed decision-making

SOPHiA GENETICS is listed amongst the 50 smartest companies worldwide by the MIT Tech Review. Our mission is to democratize data-driven medicine globally. The company is already working with more than 780 healthcare institutions in 72 countries. Our AI-based platform, SOPHiA DDM^TM, 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 GENETICS helps experts make sense of clinical research data, empowering more informed decision-making.

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.

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 GENETICS can detect BRCA and many other gene mutations (variants) that give experts further insight into cancer research.

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 clinical researchers stay a step ahead of cancer.

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*This article was originally published in the Boston Globe as part of their annual Breast Cancer Awareness special coverage