Keri Topperwien with her son Chace who died in 2012 from leukaemia. She hopes her research will help increase the number of Māori bone marrow donations. Photo / Supplied
A mum who set up a charity to support whanāu who have a child with cancer has been awarded a community research grant from the Health Research Council (HRC) to explore Māori perspectives on bone marrow donation.
Keri Topperwien (Ngāti Awa, Ngāti Porou) and her husband established the Dream Chaser Foundation following the death of their son.
Chace (Ngāti Awa, Ngāti Porou, Tūhoe) was 3 when he died in 2012 after being diagnosed with acute myeloid leukaemia, an aggressive type of cancer of the blood and bone marrow.
Topperwien will use the HRC Ngā Kanohi Kitea development grant to build connections and prepare to undertake kaupapa Māori research that targets opportunities for increasing the number of bone marrow donors in Aotearoa, particularly among Māori.
“The best chance Chace had of surviving leukaemia was a bone marrow transplant to replace the cancerous cells within his bones with donated healthy marrow,” Topperwien says.
“However, unlike with blood, certain markers need to align to be a bone marrow match, meaning that Chace’s match was most likely going to be from a Māori donor. At the time, there were 26 million bone marrow donors on the international bone marrow registry, however only 6000 were Māori – but none was a match to our son.”
Topperwien…
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Tumors have significant differences depending on the person affected, even if they are the same cancer, such as breast cancer. Therefore, precision oncology targets specific genetic characteristics of a tumor and incorporates them into treatment. In this way, existing therapies can be “tailored” to avoid side effects and save money on expensive treatments. This represents the cancer treatment of the future.
Dr Dilara Akhoundova, medical oncologist at the University Hospital Bern and postdoctoral researcher at the University of Bern, and Prof Mark A. Rubin, director of the Department for BioMedical Research (DBMR) and the Bern Center for Precision Medicine (BCPM), have now summarized and reviewed the most recent advances in multi-omics tumor profiling. In their review, published in the leading journal Cancer Cell, they provide a critical view of the current state of translational validation of the reviewed technologies and analyze their potential for integration into precision treatment.
These new technologies take us to a depth of understanding of tumors that has never been seen before. It is as if with the standard tools, we were told that Switzerland is a country with higher altitudes than the Netherlands; with these new technologies, we can see the 3-D landscape of mountains, valleys, and lakes.”
Mark A. Rubin, Director of the Bern Center for Precision Medicine
Integrating novel technologies into the clinic as fast as possible
However, there…
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SENIORS ON THE MOVE: The senior citizen’s program at the Cherrystone Missionary Baptist Association, 5551 Tom Fork Road, Ringgold, meets every Tuesday from 11 a.m. to 1 p.m. to play bingo and dominos. Also, there’s a computer awareness class from 10 to 11 a.m. and 1 to 2 p.m., senior exercise from noon to 12:20 p.m. with lunch served from 12:20 to 1 p.m. All seniors 60 years and older are welcome. For additional information, call Frances Garlin at 434-822-6453, Barbara Williams at 434-713-5271, and for computer awareness and exercise, Kathy B. Ramsey at 434-251-0379.
New York, USA, June 28, 2022 (GLOBE NEWSWIRE) — According to a report published by Research Dive, the North America DNA Sequencing Market is envisioned to generate a revenue of $9,154 million and rise at a noteworthy CAGR of 15.9% during the forecast timeframe from 2019 to 2025.
As per our analysts, the growing trends of DNA sequencing in the personalized genomics for treating genetic disorders and various other diseases, the North America DNA sequencing market is expected to experience exponential growth during the analysis period. Besides, the increasing need for DNA sequencing for identifying and understanding forensics, genetic profiling, pharmacogenomics, and genetic diseases is further expected to bolster the growth of the market over the forecast period. Moreover, the increasing advancements in the DNA sequencing procedures and rising prevalence of prenatal disorders and cancers among people across the North America region are expected to augment the growth of the North America DNA sequencing market throughout the estimated period. However, the lack of skilled professionals and the ethical & legal limitations related to DNA sequencing may hamper the growth of the market during the forecast period.
Grow your Business Globally, Grab an Access to PDF Sample of North America DNA Sequencing Market
Segments of the North America DNA Sequencing Market
The report has divided the market into segments based on product, application, technology, end-user, and region.
Product: Consumable Sub-Segment to be Most Productive
The consumable sub-segment is expected to hold the largest share of the market during the analysis period. The increasing use and necessity in sample preparation and pre-requisite stages of DNA sequencing are expected to uplift…
A novel, automated liquid biopsy test in development by researchers at the Johns Hopkins Kimmel Cancer Center can accurately detect the presence of cancer DNA in the blood of patients with metastatic breast cancer within five hours. The test, currently a prototype for research use only, potentially could be used to quickly help oncologists determine if cancer treatments are working.
The test, called the Liquid Biopsy for Breast Cancer Methylation (LBx-BCM), is compatible with a commercially available molecular testing platform called GeneXpert® and can detect methylation, a type of chemical tag, in one or more of nine genes altered in breast cancers in 4.5 hours. It requires less than 15 minutes of hands-on time by a laboratory technician. A validation of the test and its potential uses was published online May 6 in the journal Cancer Research Communications.
Many patients with breast cancer do not respond to chemotherapy but go through multiple cycles of treatment before oncology teams can perform imaging studies to determine if a treatment is effective, explains senior study author Saraswati Sukumar, Ph.D., professor of oncology and pathology at the Johns Hopkins University School of Medicine. Imaging can be effective at detecting changes in larger tumors, but it is nearly impossible to identify changes in smaller tumors, Sukumar says.
Our goal was to develop an assay that would be sophisticated yet simple to perform worldwide and could be used at the point of care to provide same-day feedback to clinicians and patients. If we are able to show by this cartridge assay that we are indeed successful in predicting the course of treatment, we might be able to institute changes in the way we look at chemotherapy and the way we treat patients for…
An optimistic state of mind is beneficial to health, while a pessimistic one is harmful. Modern medicine has recognized the so-called placebo effect. However, you may not know that human thoughts, emotions, and beliefs not only change the physical body, but also to the extent that they can possibly reverse cancer.
Below are several real-life cancer cases.
A Patient’s Terminal Cancer Disappeared Rapidly Due to a Misunderstanding
In a 1957 paper titled “Psychological Variables in Human Cancer” published in the Journal of Projective Techniques, Bruno Klopfer, a well-known psychologist, recorded a bizarre medical case with a twist.
Mr. Wright was a terminal lymphoma patient with tumors as large as oranges in his neck, chest, armpits, abdomen, and groin, and he also suffered from a swollen and enlarged spleen and liver, as well as severe anemia. His doctor, Philip West, thought that he was dying and would not give him any more treatment. However, Wright still wanted to live, and while he was in the hospital, he learned that the hospital was testing a new anti-cancer drug called Krebiozen, which gave him hope.
Wright begged Dr. West to inject him with the new drug, but the latter tried to discourage him, saying that Krebiozen was not suitable for him and that it was against the rules. Nevertheless, Wright kept begging and pleading, and Dr. West finally agreed to let him try it. Three days after the new drug was injected, when Dr. West returned to the hospital after the weekend, he was amazed to see Wright, who had been bedridden and constantly wearing an oxygen mask, now walking around the room and laughing with the nurses!
However, other patients in the hospital, who were also undergoing the Krebiozen trial, showed no improvement, and some even got worse. Doctors…
CHICAGO — Traditionally, brain tumors are identified and diagnosed under the microscope. Sometimes a small sample or subtle differences can make the identification of the exact type of cancer tricky. But now, for the first time, doctors are profiling tumors by using their DNA fingerprints.
When he was just five weeks old, Steve Stewart became easily irritable and started vomiting.
“Three weeks after him being home, actually, my wife delivering him, his head just started to swell,” said the baby’s father, Steve Stewart Sr.
The cause of that swelling turned out to be a congenital brain tumor. It measured 9.7 centimeters in length.
“If we look at the MRI images, it literally took up half to more than half of his skull,” said Dr. Angela Waanders, head of pediatric neuro-oncology at Lurie Children’s Hospital.
Waanders is the executive board co-chair for the Children’s Brain Tumor Network – an international research consortium.
Waanders says congenital brain tumors, like Steve’s, can be challenging for surgeons. The tumors bleed and can damage an infant’s early brain development.
“So, even doing a biopsy puts a patient at risk,” she said.
For pathologists, that meant very little tissue could be harvested from the tumor to identify it.
“In this case, it was an endoscopic biopsy. So, we’re talking about millimeters of tissue,” said Dr. Nitin Wadhwani, director of neuropathology at Lurie Children’s Hospital.
Knowing exactly what kind of tumor they’re dealing with he says is important for setting up a treatment plan.
“In this scenario we knew a limited panel, immuno-stains would give us some guidance, but we needed something else,” said Wadhwani.
That something else was a process called DNA methylation profiling.
A rare inherited disorder, Xeroderma Pigmentosum (XP) is a photosensitive condition characterized by high susceptibility to skin cancers. XP follows the autosomal recessive pattern of inheritance. Photosensitivity (with easy skin blistering after modest sun exposure), early freckling, and the development of lentiginous pigmentation are all symptoms of poor UV-radiation-induced damage healing.
A sunburn response that is excessive and extended is seen in about 60% of those who are affected. Neurological disorders of various severity might occur in a minority of instances.
XP has been discovered on every continent and in people of all ethnicities.
Image Credit: Xeroderma Pigmentosum/Shutterstock
History
Dermatologist Moriz Kaposi originally reported XP in 1874 after observing wrinkling, checkered pigmentation, tiny dilatations of the arteries, skin contraction, and the development of skin-based malignancies in four individuals with thin, dry skin.
Following reports, the disease’s spectrum was enlarged to encompass neurologic problems, as well as a severe variant with dwarfism, gonadal hypoplasia, and learning disabilities, in addition to the classic symptoms of XP.
The disease pathogenesis was identified as congenital excessive sensitization of the skin to ultraviolet radiation of the sun as early as 1926, with clear value in sun exposure prevention methods.
Cause and Genetic Mechanism
Mutations in eight genes can result in the development of XP. These are genes involved in DNA repair, namely, XPA, XPB (ERCC3), XPC, XPD (ERCC2), XPE (DDB2), XPF (ERCC4), XPG (ERCC5), and XPV (POLH).
UV radiation from the sun, as well as hazardous compounds contained in cigarette smoke, can cause DNA damage. DNA damage is normally repaired by normal cells before it causes complications. DNA damage is not repaired regularly in persons with XP. Cells malfunction as more anomalies in DNA develop, eventually becoming malignant or dying.
Many of the xeroderma pigmentosum genes are involved in a DNA-repair mechanism called nucleotide excision repair (NER). In this process, the proteins produced by these genes have a variety of activities. They detect DNA damage, unwind damaged segments of DNA, snip off (excise) the abnormal parts, and replace the damaged areas with the right DNA. Cells with inherited defects in the NER-related genes are unable to complete one or more of these processes.
The main symptoms of xeroderma pigmentosum are caused by an accumulation of unrepaired DNA damage. UV radiation can disrupt genes that control cell development and division, causing cells to die or grow too quickly and uncontrollably. Cancerous tumors can arise as a result of uncontrolled cell expansion. Although the brain is not exposed to UV rays, it is assumed that an accumulation of DNA damage causes neurological disorders. Other variables, according to researchers, may cause DNA damage in nerve cells. Why some persons with XP develop neurological problems while others do not is unknown.
Symptoms
Patients with XP frequently exhibit unique clinical manifestations such as increased sensitivity to UV exposure (resulting in painful sunburns), skin dryness (also known as xerosis), and developing freckle-like pigmentary abnormalities. They also have varying degrees of skin damage, early photoaging, and a higher prevalence of malignant tumors in the face, head, and neck. Furthermore, some patients have neurologic and ophthalmologic deterioration with time.
Extreme sensitivity to sunlight is the first symptom in around 60% of patients, and it can take days or weeks to resolve. The remaining 40% of instances do not show any signs of sunburn. Telangiectasia is a late symptom. There may be stucco keratoses, which are easily distinguished from sun keratoses. Because all skin changes are caused by UV exposure, the severity of these changes is determined by the amount of sun exposure, the Fitzpatrick skin type, and the degree of skin protection from the sun. Individually, the consequences can be quite different.
25% of patients with XP experience neurological symptoms although the severity and timing of their onset might vary substantially. Attenuated or absent tendon reflexes, speech and gait difficulties, gradual hearing loss, and cognitive decline are some commonly observed symptoms.
Skin cancer (34%) is the leading cause of death in XP patients, followed by neurological degeneration (31%), and internal cancer (17%), which includes brain cancer (astrocytoma, sarcoma, medulloblastoma) and leukemia (acute lymphatic leukemia, myelogenous leukemia), among others.
Image Credit: Evgeniy Kalinovskiy/Shutterstock
Types of XP
XP is classified into the following types: XPA, XPB, XPC, XPD, XPE, XPF, XPG, and XPV. After modest sun exposure, the XPC, XPE, and XPV kinds have been linked to less severe sunburn, and they may tan but still develop aberrant pigmentation. Neurodegeneration isn’t observed in all types equally, although it’s most common in the XPA, XPB, XPD, XPF, and XPG types, while it’s rare in the XPC and XPE types.
In the United States, Europe, and North Africa, the most common complement type is XPC, while in Japan, the most common complement type is XPA.
Epidemiology
XP has been discovered on every continent and in all racial groups. Males and females are both affected, which is consistent with autosomal recessive inheritance. Affected patients can be found all over the world, with estimates ranging from one in every million in the United States to one in every 22,000 in Japan. The Middle East and North Africa have also been identified as regions with a significant number of cases.
XP patients have a 10,000-fold increased risk of non-melanoma skin cancer (NMSC), such as basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), compared to the general population, while melanoma is reported to be 2000-fold more common in XP.
Diagnosis and Treatment
Although cases with later onset and limited signs have been recorded more lately in the literature, clinical suspicion for XP should be raised in individuals who demonstrate early cutaneous manifestations of sun damage. Robust cellular assays for faulty DNA repair, which are available in numerous countries, can be used to confirm the diagnosis firmly. The detection of unscheduled DNA synthesis in cultured skin fibroblasts is the most often utilized test. Additional genetic testing can be used to determine the gene that is defective in XP patients.
To date, XP patients are managed according to worldwide recommendations, which include early genetic/clinical diagnosis and long-term UV protection. Reduced sun exposure can be achieved by using total sunscreen lotions daily, or by wearing gloves, hats, sunglasses, and UV-blocking glasses on automobile windows, as well as avoiding exposure during the day.
Some anti-cancer medications have been investigated as an alternative to surgical removal of skin tumors for the treatment of XP patients. The topical use of 5-Fluorouracil (5-FU) or Imiquimod has proven to be the most effective medicine among these.
Because there are no cures for XP, patients’ cancer-free longevity is dependent on persistent full-body protection and frequent surgical removal of skin malignancies.
Xeroderma pigmentosum is a field that is always changing. The attention is shifting away from the complexities of nucleotide excision repair and toward fixing the downstream metabolic impairments that occur from the NER malfunction, which could lead to new therapeutic approaches.
References:
Piccione, M., Belloni Fortina, A., Ferri, G., Andolina, G., Beretta, L., Cividini, A., De Marni, E., Caroppo, F., Citernesi, U., & Di Liddo, R. (2021). Xeroderma Pigmentosum: General Aspects and Management. Journal of personalized medicine, 11(11), 1146. https://doi.org/10.3390/jpm11111146
Weon, J. L., & Glass, D. A., 2nd (2019). Novel therapeutic approaches to xeroderma pigmentosum. The British journal of dermatology, 181(2), 249–255. https://doi.org/10.1111/bjd.17253
Lehmann, J., Seebode, C., Martens, M. C., & Emmert, S. (2018). Xeroderma Pigmentosum – Facts and Perspectives. Anticancer research, 38(2), 1159–1164. https://doi.org/10.21873/anticanres.12335
Moriwaki, S., Kanda, F., Hayashi, M., Yamashita, D., Sakai, Y., Nishigori, C., & Xeroderma pigmentosum clinical practice guidelines revision committee (2017). Xeroderma pigmentosum clinical practice guidelines. The Journal of dermatology, 44(10), 1087–1096. https://doi.org/10.1111/1346-8138.13907
Black J. O. (2016). Xeroderma Pigmentosum. Head and neck pathology, 10(2), 139–144. https://doi.org/10.1007/s12105-016-0707-8
Black J. O. (2016). Xeroderma Pigmentosum. Head and neck pathology, 10(2), 139–144. https://doi.org/10.1007/s12105-016-0707-8
Lehmann, A. R., McGibbon, D., & Stefanini, M. (2011). Xeroderma pigmentosum. Orphanet journal of rare diseases, 6, 70. https://doi.org/10.1186/1750-1172-6-70
In this interview, we speak to Sheetal Parmar, vice president of medical affairs and head of clinical services at Natera, about their cell-free DNA (cfDNA) testing services and the future of genetic testing with science.
Please could you introduce yourself and tell us about your current role at Natera?
I’m Sheetal Parmar, a board-certified genetic counselor and vice president of medical affairs at Natera.
Natera is a global leader in cell-free DNA (cfDNA) testing. What are some of your aims and missions at Natera?
At Natera, we aim to make personalized genetic testing and diagnostics a part of standard care, and our mission is to change the management of disease worldwide. Our core cfDNA technology provides health information in the areas of reproductive health, oncology, and organ health.
Natera is revolutionizing the standard of care with next-generation, cell-free DNA testing
You analyze cfDNA to find insights about health and disease. What is cfDNA and what insights can you gain from analyzing it?
Cell-free DNA, or cfDNA, are small pieces of free-floating DNA found in the bloodstream. Everyone has cfDNA that originates from their own cells in their bloodstream. By analyzing the cfDNA from a blood draw, we can collect useful genetic information about a variety of conditions.
The first application of our cfDNA technology was in the reproductive health space. During pregnancy, there is cfDNA from both the pregnant individual and the placenta circulating in the bloodstream and we can analyze it to screen for chromosome conditions such as trisomy 21, trisomy 18, and trisomy 13.
We applied what we learned about analyzing cfDNA during pregnancy to oncology to detect molecular residual disease and monitor disease recurrence, and also use this technology in organ health, to assess for transplanted kidney, heart, and lung rejection.
Despite women’s health seeing more interest in recent years, there is still more that needs to be done. What do you currently believe to be some of the biggest challenges faced by women’s health and why should life sciences companies be placing a greater emphasis on it?
I agree that there is so much more we can do to address challenges in women’s healthcare. For example, despite all our scientific advances, there exist pregnancy complications such as preterm birth and preeclampsia that are associated with morbidity and mortality. Preterm birth affects about 10% of pregnancies and is associated with significant neonatal morbidity and mortality.
Preeclampsia, a condition where a pregnant person develops high blood pressure with protein in the urine and other problems affects approximately 3-8% of pregnancies. 10-16% of maternal deaths in economically advanced societies are due to preeclampsia. Many researchers and companies are focusing on health issues like these because they are significant and methods to identify pregnancies at risk are limited.
Natera has developed a variety of tests within the field of women’s health. Can you describe some of the tests that are available for women and what they test for?
Natera has a number of genetic tests that provide important health information from preconception through pregnancy. This includes Spectrum preimplantation genetic testing of embryos during the IVF process; Horizon carrier screening for individuals and couples to determine their risk for passing a genetic condition to their child; Panorama NIPT which screens for chromosome conditions in the pregnancy, Vistara NIPT which screens for single-gene conditions in the pregnancy, and Anora which is a test on miscarriage tissue to identify the cause of a pregnancy loss.
Additionally, we have a genetic test called Empower for those who want to know more about their risk for developing cancer, understand why it might be more common in their family, or want to inform treatment options following a cancer diagnosis. Empower screens for genes associated with an increased risk for common hereditary cancers and our multi-cancer panels include commonly screened-for genes associated with 12+ types of cancer.
Image Credit: 10 FACE/Shutterstock.com
You have also applied your technology to noninvasive prenatal testing (NIPT). Can you tell us more about NIPT and why it is beneficial not only to the mothers but to research also?
For a pregnant person, knowing their baby’s risk for certain genetic conditions allows them to prepare. NIPT is a screening test and not a diagnostic test. This means it can tell you what the chances are for certain genetic conditions in the pregnancy. While this test is not diagnostic, having a low-risk result for the conditions screened can provide some reassurance.
For a high-risk result, a confirmatory diagnostic test is recommended and this can be done during the pregnancy or after delivery. Knowing that a pregnancy has a genetic condition can inform what type of hospital a person should deliver at, what medical specialists should be available after delivery, what treatments or interventions might be recommended, and gives people time to prepare emotionally. In some cases, it can prevent a long diagnostic odyssey. For example, the average years to diagnose 22q11. 2 deletion syndrome is 4 years. We can now screen for 22q11.2 with cfDNA.
From a research perspective, Natera is committed to peer-reviewed publications for all our tests. I’m proud to say there are over 100 peer-reviewed publications across all our products and 25 of those are specific to Panorama NIPT. We recently published the results of the SMART study which is the largest prospective NIPT study ever conducted in a general population.
One of the reasons we sponsored this 20,000 patient study was to confirm Panorama test performance in the general population, which we did. However, more importantly, this study provided information on the incidence and test performance of 22q11.2 deletion syndrome. Individuals with this condition can have heart defects, immune deficiency, low calcium levels, cleft palate, learning differences, and schizophrenia.
With this study, we confirmed that this condition is not rare, in fact, in this cohort we found that the incidence was approximately 1 in 1500 pregnancies, which is more common than other conditions routinely screened in pregnancy. This peer-reviewed published data supports offering screening for 22q11.2 deletion syndrome to all pregnant individuals.
You are currently pushing the boundaries of testing management within science. How important is innovation to the field of genetic testing?
Innovation is incredibly important to translating advanced genetic technologies into usable and informative tests for the general public. One example of innovation from Natera’s R&D team is the application of AI to the Panorama algorithm.
Through analyzing millions of tests, the Panorama AI algorithm was able to reduce the number of “no results” while maintaining high test sensitivity and specificity. We also applied algorithm improvements to NIPT for 22q11.2 deletion where we improved our detection of various deletion sizes and increased the positive predictive value of the test from 20% to 53%.
However, innovation applies to more than the tests. It’s important to the overall infrastructure of testing. How easy is it for a healthcare provider to order the test and get results? Do patients and ordering providers have access to education and information during the entire testing journey? We wanted patients to have access to our genetic education services 24/7, so our genetic counseling team worked with our user experience and engineering teams to build NEVA, Natera’s educational virtual assistant. This is a chatbot that can provide pre-test education as well as post-test result information across many of our products.
Patients can even schedule an appointment with a Natera genetic counselor through NEVA. About 30% of patients use this outside of normal business hours, which means NEVA helps patients access information when it’s most convenient for them.
Image Credit: Natali _ Mis/Shutterstock.com
What do you believe the future of reproductive genetic testing looks like? Are there any particular trends that you foresee?
We are moving towards having the ability to screen individuals and pregnancies for a larger number of conditions. We have seen this across preimplantation genetic testing, carrier screening, and NIPT. Of course, it’s critical that as expansion occurs, there is a high level of test performance and that genetic education and counseling be available to anyone interested in testing. Equitable access to testing is necessary as well.
Do you believe that with continued innovation at Natera, you will continue to change the ways that diseases are managed? What would this mean globally?
As Natera continues to explore the potential applications of cfDNA, this could definitely have an impact on disease management and treatment. There are several studies currently looking at the need for chemotherapy for colorectal cancer patients based on the presence of ctDNA, or tumor fraction of cfDNA, regardless of cancer stage.
Also, the Prospera transplant assessment test is able to monitor for solid organ transplant rejection more accurately than existing biomarkers. Since rejection is the most common cause of transplant failure, early, more accurate detection will have a significant impact. Globally, these tests could impact the treatment and monitoring of both cancer and transplant patients and optimize treatment.
What is next for Natera? Are there any exciting projects that you are involved in?
The women’s health division is collaborating with clinicians to engage in clinical research aimed at improving and expanding the Panorama NIPT product. We are also looking at ways to improve overall maternal/fetal health during pregnancy through early identification of potential perinatal complications. I’m also really excited about partnering with our newest business unit for early cancer detection.
Where can readers find more information?
Natera’s website has a wealth of information for both patients and clinicians. We run a women’s health blog, as well as host videos, peer-reviewed research, and webinars.
About Sheetal Parmar
Ms. Parmar is vice president of medical affairs and head of clinical services at Natera. She is a board-certified genetic counselor specializing in prenatal diagnosis and screening. Sheetal received her BA in Molecular and Cell Biology from UC Berkeley and her MS in Genetic Counseling from the University of Cincinnati, where she was a Albert C. Yates Scholar and Fellow. She joined Natera after working for 11 years as the lead prenatal genetic counselor at a high-risk prenatal diagnosis clinic and cytogenetic laboratory.
She has served on the Board of Directors for the National Society of Genetic Counselors (NSGC) and is currently a site visitor for the Accreditation Council of Genetic Counseling (ACGC). In 2020, Sheetal received the Leading Women Entrepreneur Force for Change Illuminator award for her contribution to Natera’s positive impact on the lives of others during the COVID-19 pandemic.
BERKELEY, Calif. and MAINZ, Germany, April 12, 2022 (GLOBE NEWSWIRE) — Mainz Biomed N.V. (NASDAQ:MYNZ) (“Mainz Biomed” or the “Company”), a molecular genetics diagnostic company specializing in the early detection of cancer, announced today operational results for the first quarter ended March 31, 2022.
Key Highlights
Continued to ramp up EU commercial activities for ColoAlert, the Company’s highly efficacious, and easy-to-use detection test for colorectal cancerAcquired portfolio of novel mRNA biomarkers to potentially upgrade ColoAlert’s technical profile to achieve “gold standard” status for CRC at-home testingCommenced international clinical study (ColoFuture) to evaluate integration of these biomarkers into ColoAlertReceived supportive feedback from the U.S. Food and Drug Administration (FDA) on ColoAlert’s pre-submission package for its U.S. pivotal clinical trialFormally initiated ColoAlert’s U.S. medical reimbursement process with the Centers for Medicare Services (CMS)Executed a $25.8 million public follow-on offeringExpanded Strategic Advisory Board of global leaders in molecular diagnostic development and commercialization
“This past quarter has proven to be an excellent period of progress across commercial, corporate and product development fronts,” commented Guido Baechler, Chief Executive Officer of Mainz Biomed. “The entire Mainz team is excited by the rapid growth achieved to date and remains steadfast in our conviction to advance an ambitious yet balanced strategy to maximize ColoAlert’s potential in the marketplace, and to build our oncology-focused diagnostic franchise via a unique commercial model and robust technical approach to product development.”
Commercial Update: ColoAlert marketed across Europe via unique business model During the quarter, Mainz continued its differentiated commercial plan of partnering with third-party laboratories for test kit processing versus the traditional methodology of operating a single facility. Under the standard terms of all partnerships, Mainz is providing ColoAlert to the respective labs, including co-branding with key accounts, whereby each facility purchases Mainz’s customized polymerase chain reaction (PCR) assay kits on an on-demand basis and provides to their respective network of physicians and patients a comprehensive solution for advanced CRC protection. During the first quarter (February 2022), Mainz announced a partnership with Labor MVZ Dr. Stein + Kollegen (“Laboratory Mönchengladbach”), one of the largest diagnostics laboratories in the North Rhine-Westphalia region of Germany. The Lab services over 2,500 physicians, processing over five million samples in total annually and screening approximately 1,000 patients per week specifically for CRC. With the addition of Laboratory Mönchengladbach, Mainz now has four core partnerships including GANZIMMUN Diagnostics AG, one of Europe’s leading laboratories for preventive and complementary medicine which processes approximately 5,500 laboratory orders daily.
ColoAlert R&D Update: ColoFuture study evaluating acquired mRNA biomarkers In February 2022, Mainz initiated a clinical study (ColoFuture) to evaluate a portfolio of five gene expression biomarkers acquired from Socpra Sciences Santé Et Humaines S.E.C. in January 2022. The results from a published study in the peer review journal MDPI (March 11, 2021) demonstrated that these specific biomarkers have a high degree of effectiveness in detecting CRC lesions including advanced adenomas (“AA”), a type of pre-cancerous polyp often attributed to this deadly disease. As such, the ColoFuture study will determine if the biomarkers enhance ColoAlert’s technical profile to extend its capability to include the identification of advanced adenomas (AA) while increasing ColoAlert’s rates of diagnostic sensitivity and specificity. If the data results from ColoFuture are successful, ColoAlert will be positioned as the most robust and accurate at-home diagnostic screening test on the market, as it will not only detect cancerous polyps with a high degree of accuracy but has the potential to prevent CRC through early detection of precancerous adenomas.
To ensure optimal study execution, the Company announced during the first quarter strategic partnerships with Sentinel Diagnostics and Alcedis GmbH. Sentinel Diagnostics is a global leader in the development and production of in vitro diagnostics (IVD), and Alcedis GmbH is a full-service state-of-the-art contract research organization (CRO) providing clinical trial management for biotechnology and medical device companies across the globe. With Sentinel, Mainz has been granted access to the SENTiFIT® 270 Analyzer, Sentinel’s leading automated Fecal Immunochemical Test (FIT) processing system. An essential component of ColoAlert is the utilization of a FIT which provides a complete review of blood in the stool, a condition often associated with cancerous polyps and colorectal carcinoma. It is the combination of ColoAlert and FIT results that provide the diagnostic outcome. This partnership enables Mainz to transition from deploying a manual FIT processing methodology to a state-of-the-art automated system for potential future use in the EU commercial setting, and in the Company’s forthcoming U.S. clinical trial. Alcedis is providing Mainz with the full range of services and responsibilities associated with executing ColoFuture, including patient recruitment, overseeing study protocol compliance, and the documentation and reporting of patient results.
The ColoFuture study will enroll over 600 patients in the age range of 40-85 at two participating centers in Norway and two in Germany. The Company expects to complete enrollment during the second half of 2022 and is targeting reporting study results in early 2023. Additionally, data results from ColoFuture will impact ColoAlert’s profile for FDA submission.
ColoAlert’s U.S. Regulatory Approval Update: Pre-submission for pivotal trial design receives feedback from the FDA and medical reimbursement process launched with CMS In March 2022, Mainz announced that it received supportive feedback from the U.S. Food & Drug Administration on its pre-submission package for ColoAlert. The Company will continue working with its clinical team to finalize the study’s protocols and prepare for the multi-center study which is on track to commence in late 2022. As part of the Company’s activities to prepare for the initiation of the pivotal trial, Mainz also announced the formal commencement of its medical reimbursement process for ColoAlert by scheduling an initial meeting with the Centers for Medicare and Medicaid Services (CMS) which is set to take place in April 2022. CMS is a federal agency in the U.S. Department of Health and Human Services (HHS) that administers the Medicare program and works in partnership with state governments to administer Medicaid, the Children’s Health Insurance Program (CHIP), and health insurance portability standards.
Corporate Update: Successful follow-on offering, key appointments to management team & Strategic Advisory Board. In January 2022, the Company announced a $25.8 million public follow-on offering consisting of 1,725,000 of ordinary shares priced at $15.00 per share. Boustead Securities, LLC acted as the sole underwriter for the transaction. The Company plans to file its Report on Form 20-F, including audited financial statements for 2021, with the U.S. Securities and Exchange Commission in April 2022.
Throughout the first quarter, the Company continued to bolster its leadership team highlighted by the appointments of former Abbott Diagnostics executive Steve Quinn as Vice President of Business Development (January) along with the two high profile additions to Mainz’s Strategic Advisory Board. In January, Dr. Michele Pedrocchi joined the SAB followed by the February appointment of Dr. Rainer Metzger. Dr. Pedrocchi is the former Head of Roche Diagnostics Business Development and brings to the SAB over 25 years of international experience at Roche spanning in vitro diagnostics, digital health, and personalized medicine. Dr. Metzger is a Former Danaher, Roche and Qiagen Executive with over 25 years of experience within the pharmaceutical and diagnostic industries.
About ColoAlert ColoAlert detects colorectal cancer (CRC) via a simple-to-administer test with a sensitivity and specificity nearly as high as the invasive colonoscopy*. The test utilizes proprietary methods to analyze cell DNA for specific tumor markers combined with the fecal immunochemical test (FIT) and is designed to detect tumor DNA and CRC cases in their earliest stages. The product is CE-IVD marked (complying with EU safety, health and environmental requirements) and is transitioning to compliance with IVDR. The product is commercially available in a selection of countries in the European Union. Mainz Biomed currently distributes ColoAlert through a number of clinical affiliates. Once approved in the U.S., the Company’s commercial strategy is to establish scalable distribution through a collaborative partner program with regional and national laboratory service providers across the country. * Dollinger MM et al. (2018)
About Colorectal Cancer Colorectal cancer (CRC) is the second most lethal cancer in the U.S. and Europe, but also the most preventable with early detection providing survival rates above 90%. Annual testing costs per patient are minimal, especially when compared to late-stage treatments of CRC which cost patients an average of $38,469 per year. The American Cancer Society estimates that in 2021 there will be approximately 149,500 new cases of colon and rectal cancer in the U.S. with 52,980 resulting in death. Recent FDA decisions suggest that screening with stool DNA tests such as ColoAlert in the US should be conducted once every three years starting at age 45. Currently, there are 112 million Americans aged 50+, a total that is expected to increase to 157 million within 10 years. Appropriately testing these US-based 50+ populations every three years as prescribed equates to a US market opportunity of approximately $3.7 Billion per year.
About Mainz Biomed N.V. Mainz Biomed develops market-ready molecular genetic diagnostic solutions for life-threatening conditions. The Company’s flagship product is ColoAlert, an accurate, non-invasive, and easy-to-use early detection diagnostic test for colorectal cancer. ColoAlert is currently marketed across Europe with FDA clinical study and submission process intended to be launched in the first half of 2022 for U.S. regulatory approval. Mainz Biomed’s product candidate portfolio includes PancAlert, an early-stage pancreatic cancer screening test based on Real-Time Polymerase Chain Reaction-based (PCR) multiplex detection of molecular-genetic biomarkers in stool samples, and the GenoStick technology, a platform being developed to detect pathogens on a molecular genetic basis.
For more information, please visit www.mainzbiomed.com
Certain statements made in this press release are “forward-looking statements” within the meaning of the “safe harbor” provisions of the Private Securities Litigation Reform Act of 1995. Forward-looking statements may be identified by the use of words such as “anticipate”, “believe”, “expect”, “estimate”, “plan”, “outlook”, and “project” and other similar expressions that predict or indicate future events or trends or that are not statements of historical matters. These forward-looking statements reflect the current analysis of existing information and are subject to various risks and uncertainties. As a result, caution must be exercised in relying on forward-looking statements. Due to known and unknown risks, actual results may differ materially from the Company’s expectations or projections. The following factors, among others, could cause actual results to differ materially from those described in these forward-looking statements: (i) the failure to meet projected development and related targets; (ii) changes in applicable laws or regulations; (iii) the effect of the COVID-19 pandemic on the Company and its current or intended markets; and (iv) other risks and uncertainties described herein, as well as those risks and uncertainties discussed from time to time in other reports and other public filings with the Securities and Exchange Commission (the “SEC”) by the Company. Additional information concerning these and other factors that may impact the Company’s expectations and projections can be found in its initial filings with the SEC, including its registration statement on Form F-1 filed on January 21, 2022. The Company’s SEC filings are available publicly on the SEC’s website at www.sec.gov. Any forward-looking statement made by us in this press release is based only on information currently available to Mainz Biomed and speaks only as of the date on which it is made. Mainz Biomed undertakes no obligation to publicly update any forward-looking statement, whether written or oral, that may be made from time to time, whether as a result of new information, future developments or otherwise, except as required by law.
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