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Accelerating and empowering our customers’ clinical cancer research decisions with cost-effective, accurate and fast in-house results.
This week is marking one year from the official launch of the SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution. This is a milestone to celebrate, as with the introduction of our SOPHiA DDM™ HRD Solution, we introduced a cutting-edge, novel approach to HRD detection and supporting clinical researchers in their decision-making.
What is Homologous Recombination Deficiency (HRD) and why does it matter in cancer?
Homologous Recombination (HR) is a cellular process that repairs double-stranded breaks (DSBs) arising from DNA replication process or resulting from the exposure to DNA-damaging agents. Homologous Recombination Deficiency (HRD) is a condition that hinders the ability of cells to repair the double-stranded DNA break damage, therefore ultimately triggering oncogenesis1.
Damaged or falsely repaired DNA double strands lead to the accumulation of genomic scars which can be assessed by means of a Genomic Instability (GI)1. Deficiency in one (or more) homologous recombination genes, increases the risk for multiple malignancies2, while HRD is identifiable in multiplecancer types4-7. Some of the Homologous Recombination Repair (HRR) pathways genes most prevalently involved in the HRD phenotype are: BRCA1, BRCA2, RAD51C and PALB2.
How does the SOPHiA DDM™ HRD Solution allow clinical researchers to accelerate HRD detection?
At SOPHiA GENETICS, we are leveraging target capture technology and low-pass Whole Genome Sequencing (WGS) to isolate somatic and germline mutations in HR-associated genes.This permits the end user to identify pathogenic variants, such as SNPs and Indels, that could be potential causes of HRD.
In a single workflow, the SOPHiA DDM™ HRD Solution combines identification of mutations in 28 homologous recombination repair (HRR) genes beyond BRCA1 and BRCA2.
The unique value proposition of the SOPHiA DDM™ HRD Solution lies in the possibility of HRD testing in a decentralized format, supporting accurate detection of HRD status in a simple and intuitive platform that reduces turnaround time and costs.
We are extremely proud of having designed a sample-to-report application as a powerful tool for data-driven decision making by HCPs for the benefit of the ovarian cancer patients globally. In 2022, our expert bioinformatics and technical implementation teams facilitated over 30 SOPHiA GENETICS Set-Up Programs, supporting rapid adoption of the workflow across the globe, demonstrating high analytical performance and customer benefit maximization leveraging the capabilities of the SOPHiA DDM™ Platform.
SOPHiA DDM™ HRD Solution: A commitment to science, our customers and the world.
We, at SOPHiA GENETICS, are committed to improving science and healthcare outcomes across the world, developing cutting-edge technologies for our global customers and partners. To mark this 1-year celebration, we spoke to one of our partners, Diagnosticos da America (Dasa), about their experience with the SOPHiA DDM™ HRD Solution. Here are some insights from our collaboration:
SOPHiA GENETICS and Dasa celebrate a great milestone: 2,000 samples analyzed in less than two years!
Dasa is the largest integrated health network in Brazil, serving more than 20 million patients per year through more than 250,000 medical partners. Dasa became one of the frontrunners, introducing SOPHiA GENETICS's Solution for HRD as the first decentralized solution in Latin America.
“With such a large regional network, we needed a cost-effective HRD solution that helped improve our workflow efficiency. The decentralized approach of SOPHiA GENETICS has enabled us to increase our scalability and output – in less than two years, we've tested the HRD status of over 2,000 in-house samples. The powerful analytics of SOPHiA DDM™ have helped us to maximize genomic insights from these samples and advanced our clinical research capabilities.”, said Ana Gabriela, Dasa’s Genomic Business Unit Sr. Manager.
SOPHiA DDM™ HRD Solution: Going beyond BRCAness
SOPHiA GENETICS is expanding its capabilities by launching an extended Homologous Recombination Solution which allows to explore deficient HRR genes resulting in the HRD phenotype. The panel relies on high accuracy and coverage uniformity, while giving the user the ability to have their library ready for sequencing in 1.5 days.
Our extended solution delivers a comprehensive coverage of 28 genes involved in the HRR pathway, encompassing SNVs, indels and gene amplifications, while providing access to OncoPortal™ Plus, to classify variants leveraging evidence-based annotations from the JAX-CKB database.
Our aim is to expand our offerings in a platform-agnostic approach, that will further empower healthcare professionals to continuously improve their data-driven decision making.
We want to thank everyone who contributed to this success and looking forward to the next milestones to come. Together, we always achieve more!
References :
According to the World Health Organization, over 400,000 children and adolescents (0-19 years old) are diagnosed with cancer (1), while every 3 minutes, a child loses the battle with the disease. Although childhood cancer incidence is rare, it is the leading cause of disease-derived deaths past infancy (children and adolescents 0-19 years old) in the US and other developed countries (2). The most common types of cancer in children and adolescents are leukemias, lymphomas, central nervous system (CNS) and brain tumors (3).
This year, the focus of the International Childhood Cancer Day (ICDD), is to pay tribute to the groundbreaking impact that families and caregivers are having on children and adolescents with cancer. Additionally, the day is focused on raising awareness around the World Health Organization (WHO) Global Initiative for Childhood Cancer, an initiative aiming to achieve at least 60% global survival and reduce suffering of all children with cancer, by 2030 (3).
Raising awareness about childhood cancer requires a multi-faceted approach, as the impact of childhood cancer goes far beyond physical health. The emotional and financial toll on families and on survivors can also be overwhelming. Children and adolescents who survived cancer, often deal with treatment-derived comorbidities, cognitive impairment, heart disease, high risk for secondary tumors and others(4).
Despite the significant progress made in the field of childhood cancer, contributing to the decrease of cancer deaths, there is still work to be done. The overall incidence of childhood cancer has an average increase rate of 1% per year from 1997(4). In developed countries, approximately 80% of the childhood cancer incidents are treated, whereas low and middle-income countries (LMICs)the survival rates dramatically drop to 30% due to the lack of awareness, tools for timely and accurate diagnosis, inaccessibility to care, and relapse(5,6,7).
Do you want to know more about the Childhood Cancer survival rates in your country? Click here.
As childhood cancer prevention is not generally feasible, a comprehensive strategy is urgently needed to reduce the burden of cancer in children and improve patient outcomes . Coordinated efforts are needed from global governments, industry experts, Non-Governmental Organisations (NGOs) and civil society to build prompt and accurate diagnosis pathways, accompanied with personalized and evidence-based treatment decisions, as well as tailored long-term supportive care for cancer survivors.
Everyone touched by cancer needs a prompt and clear path to the right care. We, at SOPHiA GENETICS, simplify complex data and reveal what matters most.
Genomic-powered precision medicine is at the forefront of innovation in cancer research. Advancements in next-generation sequencing (NGS) technology have brought a new era in cancer care, expanding our understanding of pathogenic variants triggering oncogenesis and therapeutic targets.
Genomic research is playing a critical role in the battle against childhood cancer through identifying new targets and personalizing treatment options, developing new diagnostic tools, improving risk stratification as well as advancing immunotherapy solutions(8).
By providing biologically actionable in the underlying biology of childhood tumors, we can provide information and access to relevant clinical trials, effective existing treatment schemes and improved outcomes for children with cancer worldwide. Our CE-IVD bundle solutions empower data-driven decisions at all stages of the cancer research journey through a combination of accurate healthcare data analysis, intuitive interpretation functionalities, and secure knowledge sharing.
Our commitment is to provide clinician researchers and caregivers with evidence-based clinical decision tools, to establish research collaborations to unravel the pathophysiology of various cancers and unleash the power of precision medicine, leveraging our AI-based platform and solutions.
By continuing to invest in cancer research, we aim to actively contribute to the elimination of cancer-related deaths. Fighting childhood cancer is essential for building a healthier, equitable and prosperous future for all. Working together, we can make a significant progress in the battle against childhood cancer and bring a positive impact in the lives of children with cancer and their families.
Every effort matters, and every voice is necessary. Global advocacy raises awareness and can therefore bring a change and hope to childhood cancer. By using social media to support and participate in relevant events and organizations, educating yourself and others you can help make a difference in the fight against childhood cancer.
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Breast cancer patients are faced with varying challenges including genetic makeup, financial circumstances, and health care access. For this reason, researchers and technology developers are working hard to evolve options, to give patients around the world equal access to enhanced cancer detection and more personalized treatment.
Advanced medical imaging technology aids in breast cancer research
After initial concerns are raised by a patient, undergoing medical examination and imaging are usually the first steps of the diagnostic journey. Oftentimes, breast cancer patients do not exhibit symptoms, so multiple tests are done to diagnose breast cancer including mammograms, breast X-rays, ultrasounds, and magnetic resonance imaging (MRIs).
Imaging tests are helpful in detecting cell abnormalities, but as of now, a biopsy is still the only definitive way to prove a patient does in fact have breast cancer. During a biopsy, healthcare practitioners take a sample of breast tissue to perform further lab testing. Laboratory technicians can then check for the presence of biomarkers in the sample collected and confirm a patient’s cancer diagnosis.
The advancement of genomic analysis technology revolutionizes breast cancer research, as it provides better breast tumour classifications, which then leads to enhanced clinical management or precision oncology. For the development of precision medicine, not only the relatively static genetic codes of individuals, but also the dynamic and heterogeneous genetic codes of cancers need to be taken into account.
Biomarkers play an important role in cancer detection
A population-based case study published in the New England Journal of Medicine revealed that pathogenic variants in biomarkers BRCA1 and BRCA2 were associated with a high risk of breast cancer, while PALB2 was associated with a moderate risk. These two biomarkers have recently become essential in the early detection and treatment of certain cancers. Interestingly enough, the BRCA1 and BRCA2 biomarkers are also found in approximately 10% of women with epithelial ovarian cancer. It is through the evolution and adoption of better molecular analysis technology that clinicians are now able to utilize these important biomarkers and the insights they offer into the status of an individual’s potential cancer.
Few breast cancers are truly the same and personalized therapy is critical to minimize overtreatment and treatment-associated morbidity, while preventing recurrence and progression. Genetic profiling of patients is used to gain a comprehensive insight into the measurable benefits of a specific treatment, saving time and costs.
The future of breast cancer research involves AI and data-driven medicine
Radiomics is a process of extracting large volumes of quantitative data from digital medical images and amalgamating these together with general clinical and personal patient data into searchable shared databases. By analyzing multiple sources of data (multimodal) the researcher can start to visualize a much larger picture of an individual’s overall health.
The application of deep learning technology furthers precision oncology beyond the traditional approaches. Deep learning can now be applied to mammograms, allowing for high-risk patient identification by discovering patterns directly from the data collected. Medical researchers study this data with the help of artificial intelligence as applied in radiomics. In breast cancer, for example, radiomics has been recently used to identify molecular phenotypes and lymph node metastases, evaluate treatment response, and predict disease survival.
These recent advancements in technology enable researchers worldwide to collaborate and continually find new therapies through the ongoing globalization of clinical trials. SOPHiA GENETICS helps accelerate this process by providing a solution to optimize clinical trial site performance and find additional centres for ongoing trials not meeting recruitment goals. SOPHiA DDM™ Trial Match has been designed to connect individual cases with the appropriate clinical trial site where medical researchers run feasibility analyses for a patient’s enrollment process. This results in a growing network of research communities that allow for enhanced patient profiling for key genomic markers relevant to oncology. Ultimately, cancer centres are expected to offer more affordable and more precise treatment options to their patients.
SOPHiA DDM™ Trial Match is for research use only - not for use in diagnostic procedures
The first World Gynecologic Oncology (GO) Day was launched on September 20th, 2019 by the European Society of Gynaecological Oncology (ESGO) and the European Network of Gynaecological Cancer Advocacy Groups (ENGAGe). Their mission is to raise awareness of ovarian, uterine, cervical, vulvar, and vaginal cancers. The collective term for these five types of cancer is gynaecological cancer.
With over 1.3 million women worldwide diagnosed with gynaecological cancers in 2020, it’s more important now than ever to equip them with tools and resources to promote prevention and early detection of potential cancers. Increased public awareness of gynaecological cancer prevention can ultimately lead to improved quality of life and increased survival rate of affected women. Although there are warning signs, women can learn ways to reduce their risks in ways that make sense for their personal health, as signs and symptoms are not the same for everyone. It’s important to consult your doctor to discuss your unique situation and to schedule preventative screenings.
Over the years, World GO Day has been a joint effort by various advocacy groups around the world with both in-person and virtual events including interactive activities on the World GO Day website, scientific workshops, information sessions, and sporting events involving healthcare providers, cancer survivors, and supporters.
On September 20th you may see people wearing purple ribbons or clothing to show their support. It’s the color meant to combine awareness for all gynaecological cancers in one. In the first year of the awareness day, 33 patient advocacy groups from 22 countries in Europe and Asia joined to raise awareness with sporting events and games. This also helped to create a stronger network of people and organizations who still work together year after year to provide resources to the community.
ENGAGe says their priorities and objectives are to:
SOPHiA GENETICS is proud to support the efforts of World Go Day. You can choose to join this movement by educating yourself, sharing information with others, and showing your support. For the latest World Go Day updates, follow them on Facebook, Twitter, Instagram, and YouTube.
As an early adopter of our innovative technology, Protean BioDiagnostics’ President/CEO explains how his lab has already benefited from analyzing complex datasets with SOPHiA DDM™ for TSO500.
“Precision medicine is changing quickly. It’s getting more complicated. But it’s amazing to see how far we’ve come in a short time working with SOPHiA GENETICS,” explained Dr. Anthony Magliocco, President and CEO of Protean BioDiagnostics during a virtual discussion. “Our expertise is in tissues management and integration of data. We have to work with other experts and collaborate with them to fill gaps in our ability.” For this reason and others, Protean has worked with SOPHiA GENETICS to fill those gaps and further enable research possibilities for the clinical research experts they serve.
Protean BioDiagnostic’s vision is to bring precision medicine to all patients, regardless of where they live. That includes empowering community cancer centers and smaller labs (sometimes in very remote areas) that traditionally lag behind in developing digital workflows. Their patients could greatly benefit from the latest and greatest technologies. This is where the two companies have common goals, to evolve the landscape of medical research through Data Driven Medicine.
“SOPHiA DDM™ is a knowledge management system. It's able to help us curate the data and is continuously updated with connections to world databases. It’s a very important tool for us and our partners to simplify the analysis of complicated data. It allows our customers to better analyze the results from genomic profiles as well as clinical trial matches, which I feel is an often-unmet need in research,” said Dr. Magliocco.
Not every hospital system or regional lab has the storage capabilities for large sets of data that are generated with more comprehensive panels and testing. For this reason, the two companies’ shared goal of providing smaller labs advanced tools comes with options for cloud storage that are highly protected. Data storage security is a major priority for SOPHiA GENETICS users. We ensure that they are getting HIPAA and GDPR compliant storage capabilities no matter how large or small their lab may be.
“I’ve known SOPHiA GENETICS for a long time,” said Dr. Magliocco. Protean BioDiagnostics had an existing bioinformatics partnership with the SOPHiA GENETICS team and they signed on as an early adopter of SOPHiA DDM™ for TSO500 within the past year. “I became more interested recently with the work they’re doing with large panels. You're dealing with DNA and RNA and now you also have to deal with other markers in the DNA like tumor mutational burden and micro satellite instability. To be able to visualize it and report it back quickly and accurately makes this a very powerful tool. I’m also impressed by the experience of their bioinformaticians and their approach. They’re always trying to move forward. You know that the product will not be the same in a year or two, that it will improve. It’s a true partnership. I’ve been privileged to make suggestions from a user’s experience, and they actually make those new features available.”
The aim of improving technologies for SOPHiA GENETICS partners is to offer deeper, more accurate analysis. Larger panels may cast wider nets, but optimization with patented algorithms through our universal platform gives more actionable insights without sacrificing data quality.
“The real problem is integrating the data, putting it together, and giving it back to them in a way that's manageable so that it can actually guide treatment,” said Dr. Magliocco. “With the Bioinformatics provided by SOPHiA GENETICS, you’re able to pull together tens of thousands of variants, sift through them all, and get the ones that are meaningful. They highlight the significant data with reporting in a way that makes sense, while still allowing you to ‘open up the hood’ and look further, to see where this reporting comes from. They simplify the reporting, but I know that the complex data is still there if I have to go back and look for more answers. This is a great tool for further research.”
SOPHiA DDM™ for TSO500 is a fully integrated bioinformatic workflow (FASTQ to Report) for Illumina TruSight™ Oncology 500 panel. The SOPHiA DDM platform combines analytical performance with streamlined interpretation of complex genomic variants in the context of comprehensive genomic profiling.
Contact us today to book a demo and learn more.
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 DDMTM 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 DDMTM, 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
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.
Amanda Fee
You never know when life is going to throw you a curve ball. You can plan for something to happen down to the dotted line, but a simple phone call can change your whole perspective on life.
In August 2017, my mother went to a doctor, complaining about lower back pain. After tests and a scan later, it turned out her appendix had ruptured and needed to be taken out. As the doctors started her procedure to remove the appendix, they looked at her with concern, as they noticed small dark specs around her gallbladder and intestines. We were told my mother had PMP cancer (Pseudomyxoma peritonei), which is a slow growing cancer that can begin with tumors in the appendix but can spread to other organs.
At the time of all this, I was in a different place, quite literally. I was studying in Ireland, about to submit my master’s thesis, focusing on the next steps of my career. When I got the call that my mother had been diagnosed with a rare cancer, I broke down. I knew my mom was terrified, and the only thing I could do was to wait for my flight home to give her a hug. Not being there was one of the hardest moments of my life. I’m very much used to being involved in every aspect of my family and I felt like I couldn’thelp her. By the time I got home to the US, my mother had already begun chemotherapy. It was hard to go through the winter holiday months and to watch her lose her hair and suffer from the taxing treatments. Right after the holidays, my mother went into her surgery. This invasive treatment consisted of removing all tumors and a high intensity chemo wash. After a few days in the ICU, and a week in the hospital, she got the OK to come home. We were delighted about the news!
Except, it was around that time when she started having more issues, resulting in another emergency trip to the ER. Her doctor told us her colon had ruptured and they had to go back in and fix it. We were told to say our final goodbyes, knowing that the chances of her survival were low, due to her invasive surgery the week before. I remember my father and I looking at each other in pure disbelief. How did we go from having her home to her potential death? After what felt like the longest three hours of my life, we got the news that the doctor was able to repair the damage. From there, we started my mother’s journey towards recovery with the support of an amazing community of family and friends.
My best advice for families is to know the risks, understand your biological health, and surround yourself with a supportive community. Every six months we’re biting our nails when my mother goes through a routine check-up to see if the cancer comes back. My siblings and I now get regular checkups and specifically test for this type of cancer with appendix specialists. When my mother was going through her treatments, our community of friends and family kept our energy and spirits lifted. Even now, after her treatments, my mom finds comfort in online communities of people with the same cancer, all sharing their stories.
I share this information because this time of my life was unlike anything I’d ever imagine experiencing and I feel like it aged me by 20 years. I had to really step up for my family. Now, I try to take that same effort and focus it on my work at SOPHiA GENETICS. What my family and I went through has fed my fire and passion to work for a company that actively supports cancer and rare disease research. It’s really rewarding and makes me hopeful that there could soon be better treatments for this cancer and that it could one day be eradicated. In the meantime, my family and I are living life to the fullest, celebrating my mom’s small cancer-free wins, and taking nothing for granted.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.
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