Inside Quantgene, A Company on the Cutting Edge of Genetic Research & Cancer Prevention
Quantgene is a fascinating company on the cutting edge of genetic research. They are a research group and startup dedicated to unlocking the Deep Human Genome by building and deploying the world’s leading Deep Genomics solution. The Quatgene team is working toward utilizing this technology to save lives through early detection and prevention. We sat down with Quantgene’s Chief Medical Officer, Dr. Monika E. Hagen, to talk early detection, better prevention, and what Quantgene is doing to find more effective cures for all disease, starting with cancer.
Starting up the Illumina, Nova-seq deep sequencing machine. This processes cell-free DNA (cfDNA) separated from the liquid biopsy samples.
Can you please explain the "deep human genome" to our readers?
An individual’s genome consists of the agglomeration of his or her genetic material, all contained within strands of DNA. These genes code for various proteins to be produced by the body, which are the fundamental building blocks of life. With this fact in mind, insight into the deep human genome can give researchers and practitioners insights into the health status of the individual. At Quantgene, our team is analyzing somatic mutations, which are mutations that occur over the course of one’s lifetime. These particular mutations are not to be confused with germline mutations, the latter being present at birth, and analysis of these mutations is generally used to reveal predisposition toward developing certain conditions. Somatic mutational examination provides us with an additional layer of insight, as it can unveil the current status of the host cell and potentially whether a disease is present in the body.
What is a liquid biopsy? Can you walk us through it?
As cells in the body die off, they shed very short fragments of DNA, called cell-free DNA (cfDNA), into the bloodstream. Seeing as cancer cells tend to discard these cfDNA pieces at higher rates than their healthy counterparts, the presence of higher-than-usual levels of these fragments can be indicative of potential cancer development in the body. By analyzing the specific known mutational profiles of these fragments, researchers can pinpoint whether or not they are likely to be cancerous.
Given that this information is all contained within the blood, a simple blood draw, or “liquid biopsy” can be utilized. Through our Serenity program, a mobile phlebotomist will be sent to the home or workplace of the individual, a tube of blood will be drawn, and then that tube will be sent off to the lab. Somatic mutational information extracted from this single blood draw will be used to identify the likely presence of multiple cancer types, all through a method that is minimally invasive for the patient.
How is Quantgene's research transforming early cancer detection?
We are a Santa Monica-based start-up that is focused on leveraging deep insights into the human genome. Our goal is to make the most innovative, preventative medicine technology available to all. Our core technology is referred to as the “DEEPGEN” platform, and this proprietary system provides our team with the necessary tools to look deep into the human genome. It makes possible the sequencing of the genome with single-molecular precision, meaning that a single mutation in the blood sample can be identified.
This technology is then combined with our novel AI/ machine learning system, which pairs up the patient’s genomic information to massive datasets in order to determine whether that mutation is likely to be caused by cancer. This methodology is intended to identify multiple cancers in the body at once, potentially before clinical symptoms occur or are clinically recognizable through standard approaches.
Quantgene is currently conducting one of the largest cfDNA clinical feasibility trials to date, exploring the detection of 15 different cancer types. These include some of the most common forms such as: lung, liver, colon, pancreatic, breast, prostate, stomach, and melanoma.
Additionally, we intend to deploy the entire system for clinical use later this year through our Serenity program. This program melds our deep genomic technology with premium patient care, in order to create a streamlined health-protecting system. Our Serenity team consists of genetic counselors and precision MD’s who assist patients in the process, providing clinical guidance and recommendations for early treatment. We are planning to take a tele-medical approach for the convenience of the patient and place utmost importance on timely feedback and assistance to our members. By providing this level of service, we hope to deviate from the standard model of care and help patients take a highly proactive approach to their health — all while simultaneously giving them access to the professional guidance that they need.
How will genetic sequencing revolutionize preventive medicine? What are the pain points? What are the potentialities?
Our genomic sequencing technology holds great promise in extending far beyond cancer. Early data from our clinical trial is already indicating that this may be a reality for us, as we have found elevated values of certain mutations in patients with inflammatory conditions. Seeing as inflammation is a known driver behind a multitude of chronic, degenerative diseases, we will explore this area further. What many people don’t realize is that a number of diseases take years to develop. The onset of clinical symptoms can often take place much later in this process, so we see the possibility of using genomic sequencing as a tool for providing early detection, before these conditions have had the chance to do lasting harm.
However, this is a long road and more research is needed in order to explore all of the possible disease profiles. The key pain points right now are really about efficiently and accurately extracting the vast amounts of genetic information and analyzing it quickly. This is where advanced technologies like big data analysis, AI and machine learning can help us progress medicine.
How is Quantgene democratizing genetic testing for early cancer detection?
We are planning to initially deploy the full Serenity system via a self-payer market. Our goal is to scale the member base to eventually make the service reimbursable and available to all patients. Upon launch, we are hoping to democratize by making our DEEPGEN technology available to individuals and institutions within the scientific community who are interested in conducting liquid biopsy research. We see enormous potential in this realm, as there are a number of ways in which our technology can be utilized to contribute to the general field of scientific knowledge, and we feel a social responsibility in this regard. We predict some of the potentialities for further application could include sequencing the patient’s genome to determine likely side effects or efficacy of various treatment options, using data to better understand the cause of cancer drug resistance, and determining active signaling pathways in the body.
In keeping with the mission of contribution to the scientific community, we are currently collaborating with Dr. Chambers in the Department of Obstetrics and Gynecology at the University of Arizona. The research is focused on better understanding the mutational profiles of individuals who are considered “high-risk” for a variety of gynecological cancers. These factors may include: a strong family history of breast or ovarian cancers, BRCA1 and 2 gene mutations, or a number of inherited genetic syndromes. It’s crucial that high-risk patients receive the proper surveillance in order to ensure the best possible outcomes, and to finely balance watchful waiting versus risk-reducing measures, such as the removal of female organs. We see Quantgene’s early-detection system as being a promising tool in optimizing this decision and therefore, reducing the onset of clinical cancer.
What is Quantgene's vision for the future of genetic testing as it pertains to cancer prevention? What are the ideal applications of this research and technology?
Our grand mission is to see cancer phase out as the second leading cause of death worldwide. We hope to transform cancer into a treatable condition. Although there is still tremendous progress to be made, we see this as a very real possibility, and our team is working diligently toward this end. Beyond that, we believe that our technology holds the promise to help prevent clinical cancers wholly. Very similar to our above-described research project for women at high risk for certain cancers, we foresee that genetic testing might be used for monitoring mutational profiles in the general population. The earliest changes of these mutational profiles might then trigger risk-reduction measures. Those might be far less invasive in the future when compared to today’s surgical removal of “healthy” female organs and may include lifestyle adjustments or drug treatments. While there is still much work to be done, genetic testing is a dynamic and exhilarating area of research, and we are driven to path the way for important innovations in medicine.
Monika E. Hagen, MD, MBA / Chief Medical Officer is a board-certified General Surgeon, specializing in new medical technologies. Trained in Germany, Switzerland, and the United States, she has over a decade of experience as a medical doctor, academic surgeon, teacher, medical device expert, and clinical trial specialist. She also received her MBA from the University of Wales in Cardiff.
Dr. Hagen is an international thought leader and lecturer in medical innovations including surgical robotics and their clinical applications. She is a frequent speaker at medical conferences and has published extensively on a variety of topics for the University Hospital of Geneva as well as several international corporations.
Besides serving as Quantgene’s Chief Medical Officer, utilizing her clinical, strategic planning, and business development expertise, she functions as a regular consultant to financial, technology, medical, and biotech companies. Dr. Hagen divides her time among professional roles in Geneva, Switzerland, Silicon Valley, and Santa Monica, California.