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.

So many labs had to turn their focus away from researching highly specialized areas of disease toward detecting, monitoring, and preventing the spread of SARS-CoV-2. While this change has been vital to help discover life-saving solutions like the vaccines, it’s also a focus-shift of resources that could make a mark in the realm of oncology research. That is, if labs are unable to dig themselves out from under those constantly growing piles of medical data.

How COVID-19 affected cancer testing

According to a survey conducted by the Association of Molecular Pathology (AMP) that included 163 laboratories worldwide, almost 70% said they had to decrease or stop the development and validation of certain tests for cancer research in 2020. Of those respondents, 48% reported it took much longer to receive any results from molecular cancer testing. Much of these roadblocks were due to shortages of reagents to perform tests, staff shortages, and overall limitations that were only made worse by the pandemic. The impact this may have on cancer research and treatment is not yet fully known. The total implications may not be felt within the industry for years to come. What is known is that cancer did not take a break during the pandemic and there’s much to be analyzed that had not been.

Studies cited in a Harvard Gazette report show that there’s been a sharp decline in routine screening – some reports decreasing by 85-90%. Fewer people are visiting their doctors in person. This means less people are catching the early signs of cancer that their physician could help discover in routine examinations. Some projections show 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. This is where data-driven medicine could come to the aid. By reducing the number of resources required to perform in-depth molecular analysis through NGS, labs may be capable of keeping up with growing demands for cancer screening.

How can a streamlined workflow solve for lab efficiency?

Each laboratory can only be stretched so thin when it comes to how many people or machines they have on hand. But analysis could be streamlined in ways that enhance the output from sample data. Next Generation Sequencing creates new paths for discovery in oncology and there are tools that bring further insights from that data. SOPHiA GENETICS has a large portfolio of solutions that can be utilized with SOPHiA DDM^™. With accurate biomarker detection down to the exonic level, improved uniform coverage leaves less likelihood that you’re missing an important component that will better inform your results

SOPHiA GENETICS also offers a solution with Paragon Genomics for SARS-CoV-2 research and surveillance. By applying what we already know about optimizing analysis for oncology, the most relevant and essential data can be brought to the surface for faster and more precise reporting.

You can also read more about how our genomic experts have worked with international partners to offer new guidelines in amplicon-based SARS-CoV-2 genotyping.

Our team at SOPHiA GENETICS continues to work to help advance the efforts of SARS-CoV-2 surveillance and research. During the first stages of the pandemic, we leveraged our experience in NGS and developed a robust solution for full-genome analysis of SARS-CoV-2 to identify circulating and emerging strains. Recently, our genomic experts have worked with international partners to offer new guidelines in amplicon-based SARS-CoV-2 genotyping, overall improving data quality and confidence.

Going beyond the detection and surveillance of emerging strains, including the B.1.1.7 “UK variant” or the B.1.167.2 “Indian variant”, the SOPHiA DDM™ platform enables the analyses of individual mutations.

As we continue to advance the analyses of SARS-CoV-2, our research experts have identified an important and novel mutational hotspot.

Our researchers recently reported a striking increase in the frequency of recruitment of diverse substitutions at a critical residue, W152, positioned in the N-terminal domain (NTD) of the Spike protein. The NTD is the most rapidly mutating part of the Spike protein, and these substitutions at position W152 have been observed repeatedly across independent phylogenetic and geographical contexts.

W152 is an important interaction point for neutralizing antibodies, and these frequent mutation recruitment events were reported with a clear increase in intensity since the end of 2020 (week 55 of the pandemic). Notably, researchers have reported this specific mutation has spurred >150 clusters that directly or indirectly contributed to contaminating over 15,000 patients.

As vaccination efforts improve around the globe, this research SOPHiA DDM™ platform enables continues to be fundamental to better understand the variants that “escape” immunity.

Read the full publication here