The Science Behind Quantgene Qx

Medical Intelligence

Not just a test but a system that combines multiple modalities to make sure there are no gaps in cancer risk assessment

Qx utilizes proprietary technology to detect cancer-associated genomic signals with high accuracy and embeds findings into an organ-specific cancer risk reporting system.​

Patient Assessment (HSRx)

Personal and Family History Assessment represents a central pillar in cancer prevention and risk mitigation. By understanding the personal medical history of a patient and combining it with insights into the cancer history of family members, a more accurate cancer risk profile of the patient can be generated.

This profile can have wide-ranging implications for preventive screening strategies and genetic testing indications, which in return are proven to significantly impact patients’ lifetime cancer outcomes. Unfortunately, studies frequently find that the majority of Americans don’t have their cancer family risk accurately documented in their medical records, meaning that they do not get the preventive cancer care they need.

Qx is designed to improve the accuracy at which patients’ personal and family cancer risk is assessed, which can have a significant impact on decreasing the lifetime risk of negative cancer outcomes.

Comprehensiveness of Family Cancer History Assessments

A study comparing family cancer history information collected through a self-completed survey documented within medical charts for 310 patients found significant gaps.

Only 43% of individuals at increased risk for breast or colorectal cancer based on their family history had this risk documented in their medical records. Additionally, the age of diagnosis was often missing in the records, indicating that over half of the individuals at increased risk did not have adequate documentation of this risk.

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‍Family History as a Risk Assessment Tool

‍The American College of Obstetricians and Gynecologists recognizes family history as playing a critical role in assessing the risk of inherited medical conditions and single gene disorders.

Several methods have been established to obtain family medical histories, including the family history questionnaire or checklist and the pedigree. The screening tool selected should be tailored to the practice setting and patient population.

It is recommended that all women receive a family history evaluation as a screening tool for inherited risk. Family history information should be reviewed and updated regularly, especially when there are significant changes to family history.

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‍Patients with a Family History of Cancer, Identification and Management

‍A family history of cancer is well accepted as an important risk factor for the development of several of the more common cancers. Failing to identify patients at elevated cancer risk can have significant health consequences for the patient and the patient’s family. This article focuses on the identification and management of patients judged to be at increased risk of breast, ovarian, colon, and prostate cancers by virtue of their family history of cancer.

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Preventive Screening Intelligence (PSx)

Preventive Cancer Screenings have proven to be the most effective tool against negative cancer outcomes. Preventive screenings allow for the early detection of malignancies, which is by far the greatest driver of long term survival.

Preventive Cancer screening falls into two categories: advanced screenings that use new modalities like cfDNA liquid biopsy, full body-MRIs and other new precision medicine technologies; and standard-of-case screenings such as mammograms, FIT tests and colonoscopies.

Standard of care screenings are recommended under US guidelines, including USPSTF, and have been extensively proven to be both medically and economically effective. However, the adherence to standard of care screenings in the US population is highly unsatisfactory, leading to tens of thousands of unnecessary cancer deaths each year.

To close the preventive screening gap, Qx applies medical intelligence systems that recognize a patients’ risk profile, match it with the appropriate standard of care preventive screening algorithm and helps patients and physicians to understand and adhere to standard of care preventive cancer screenings.

The aggregate value of cancer screenings in the United States: full potential value and value considering adherence

‍Screening for early-stage cancer can save lives because treatments are generally more effective at earlier than later stages of disease. Evidence of the aggregate benefits of guideline-recommended single-site cancer screenings has been limited.

This article assesses the benefits in terms of life-years gained and associated value from major cancer screening technologies in the United States. A mathematical model was built to estimate the aggregate benefits of screenings for breast, colorectal, cervical, and lung cancer over time since the start of US Preventive Services Task Force (USPSTF) recommendations.

For each type, the full potential benefits under perfect adherence and the benefits considering reported adherence rates were estimated. In conclusion, single-site screening could have saved an additional 3.2–5.1 million life-years, equating to $1.7-$2.7 trillion, with perfect adherence. Technologies and policy interventions that can improve adherence and/or expand the number of cancer types tested will provide significantly more value and save significantly more patient lives.

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‍Cancer Screening Prevalence and Associated Factors Among US Adults

‍Cancer screening, which is different from diagnostic testing, can detect cancer at early stages before symptoms occur, when it can be more successfully treated. In addition to early detection, screening can prevent colorectal and cervical cancers by identifying precancerous lesions that can be removed before they become cancer.

Thus, understanding screening patterns and factors associated with screening will help public health policy makers and practitioners improve cancer prevention programs further by implementing evidence-based policies and practices.

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‍Quantifying the impact of adherence to screening on colorectal cancer incidence and mortality

‍Besides the screening accuracy of the modality used, factors that influence adherence to screening frequency can largely affect the health outcomes of a screening modality. In this study, we aimed to assess the comparative effectiveness of CRC screening strategies under published rates of actual adherence. In conclusion, adherence has a substantial impact on screening outcomes, such as cancer incidence and mortality, and may influence selection of optimal screening strategies. Strategies with higher expected adherence rates can lead to clinically meaningful benefits compared to strategies that may have better one-time sensitivity and/or specificity.

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Hereditary Cancer Genetic Testing (HCx)

Testing for Hereditary cancer risk can have a significant impact on a patient’s lifetime cancer outcomes. By identifying hereditary cancer risks through genetic testing, the patient’s risk profile can be calibrated and a series of preventive measures can be taken to decrease lifetime risk of negative cancer outcomes, including personalized preventive screening strategies, lifestyle changes and other measures.

However, only a small fraction of US patients are currently receiving Hereditary Cancer genetic testing. Qx includes a comprehensive 91 gene hereditary cancer genetic test based on Quantgene’s Intelligent Genomics platform to ensure cutting-edge hereditary genomic cancer protection. Genetic testing results are integrated into the Qx cancer risk report and become part of the overall cancer risk picture of the patient.

Cancer Genetics Risk Assessment and Counseling (PDQ®)

‍A study comparing family cancer history information collected through a self-completed survey documented within medical charts for 310 patients found significant gaps. Only 43% of individuals at increased risk for breast or colorectal cancer based on their family history had this risk documented in their medical records. AddCancer Genetic Risk Assessment and Counseling is recognized by the US national institute of health (NIH) as a central tool to mitigate lifetime cancer risk and improve population outcomes in cancer. This executive summary by the NIH and National Cancer Institute reviews cancer genetics risk assessment and genetic counseling.itionally, the age of diagnosis was often missing in the records, indicating that over half of the individuals at increased risk did not have adequate documentation of this risk.

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‍Clinical outcomes of a genomic screening program for actionable genetic conditions

Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. This paper demonstrates how genomic screening programs can identify previously unrecognized individuals at increased risk of cancer and heart disease and facilitate risk management and early cancer detection.

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‍Statistics on Genetic Testing for Cancer Risk

‍Only 22.9% of females aged 18 years and older with a family history of breast and/or ovarian cancer had discussed the possibility of getting a genetic test for cancer risk. Only 10.3% of adults with a personal history of colorectal cancer discussed the possibility of genetic testing.

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‍Impact of Oncology-Specific Family Health History Risk Assessment Tool

A study on the use of a patient-facing family health history risk assessment platform in breast cancer clinics found that out of 102 patients who completed the study, 66 (65%) met guideline criteria for genetic counseling, but only 24 (36%) were referred for genetic counseling. This suggests a gap in the referral process and indicates the potential benefit of such tools in improving identification and management of patients at risk for hereditary cancer syndromes.

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Full-Body MRI assessment (FMx)

Full-body magnetic resonance imaging (FB MRI) is an important new tool to aid in the detection of most cancers at an early stage. While most experts agree that isolated full-body MRI still has important hurdles to overcome, both in the sensitivity and specificity in cancer detection, Qx recognizes its importance as part of its multi-modal precision medicine cancer detection protocol.

FB MRI is currently not a standard component of Qx, but is frequently used both as a downstream tool to clarify complex early cancer signals from cfDNA or other Qx modalities, and as an upstream input for patients who underwent a preventive MRI screening and now seek resolution of complex MRI findings using the Qx multi-modal cancer detection technology.

Whole-body magnetic resonance imaging (WB-MRI) for cancer screening

Whole-body magnetic resonance imaging (WB-MRI) is currently recommended for cancer screening in adult and pediatric subjects with cancer predisposition syndromes, representing a substantial aid for prolonging health and survival of these subjects with a high oncological risk.

Additionally, the number of studies exploring the use of WB-MRI for cancer screening in asymptomatic subjects from the general population is growing.

The primary aim of this review was to analyze the acquisition protocols found in the literature, in order to identify common sequences across published studies and to discuss the need of additional ones for specific populations. The secondary aim of this review was to provide a synthesis of current recommendations regarding the use of WB-MRI for cancer screening.

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‍An initial experience with the use of whole-body MRI for cancer screening and regular health checks

This retrospective study included 229 patients who underwent whole-body MRI as part of a routine health examination and cancer screening. The WB MRIs and radiologic reports were evaluated by a musculoskeletal radiologist, a neuroradiologist, and an abdominal radiologist. The consensus of their findings was characterized into three categories, as follows: suspicion of malignancy (category I); need for follow-up (category II); and no need for follow-up (category III). There were six category I lesions, among which two cases were found to involve malignancy.

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‍Diagnostic accuracy of whole-body MRI versus standard imaging pathways for metastatic disease in newly diagnosed colorectal cancer

‍This study aimed to prospectively compare the diagnostic accuracy and efficiency of WB-MRI-based staging pathways with standard pathways in colorectal cancer. 1020 patients were screened for eligibility. 370 patients were recruited, 299 of whom completed the trial.

Pathway sensitivity was 67% for WB-MRI and 63% for standard pathways. No adverse events related to imaging were reported. Specificity did not differ between WB-MRI and standard pathways. Agreement with the multidisciplinary team’s final treatment decision was 96% for WB-MRI and 95% for the standard pathway. In conclusion, WB-MRI staging pathways have similar accuracy to standard pathways and reduce the number of tests needed, staging time, and cost.

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Liquid biopsy cfDNA cancer signal detection (CFx)

Liquid Biopsy technology allows to profile cell-free DNA fragments and detect cancer-associated genomic variants with single-molecule precision. These genomic variants are not inherited, but so-called somatic variants that occur after birth when DNA mutates from its original structure. In cancer, a wide range of somatic mutations are documented and many have been investigated on their impact on protein changes that initiate or allow cells to become cancerous.

By detecting cancer-associated somatic mutations with high accuracy in the blood of patients, an important additional signal can be generated to guide in the early detection of dozens of cancers.

Qx utilizes Quantgene’s DEEPGEN cfDNA liquid biopsy technology to detect cancer-associated genomic signals with high accuracy and embeds cfDNA findings into its organ-specific cancer risk reporting system.

Liquid biopsies – the future of cancer early detection

Early detection is key for improved quality of life, survival, and to reduce the financial burden of cancer treatments which are greater at later stage detection. Liquid biopsies offer a powerful new technology to make pan-cancer early detection a reality. The clinical utility of liquid biopsy technologies for the earlier detection of solid cancers is increasingly being demonstrated and may pave the way for more efficient cancer diagnostics.

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‍Cell-free DNA liquid biopsy for early detection of gastrointestinal cancers: A systematic review

‍Gastrointestinal tumors are among the most common cancer types, and early detection is paramount to improve their management. Cell-free DNA (cfDNA) liquid biopsy raises significant hopes for non-invasive early detection.

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‍Blood-Based Multi-Cancer Detection Using Quantgene’s DEEPGEN cfDNA technology

Early Clinical ResultsA total of 260 cancer patients and 415 controls were included in the study. Overall, sensitivity for all cancers was 57% at 95% specificity, and 43% at 99% specificity. With 51% sensitivity and 95% specificity for all stage 1 cancers, the stage-specific sensitivities trended to improve with higher stages. Early results from this preliminary clinical, prospective evaluation of the DEEPGENTM liquid biopsy platform suggests the platform offers a clinically relevant ability to differentiate individuals with and without known cancer, even at early stages of cancer.

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‍Quantgene DEEPGEN achieves single-molecule detection of genomic cancer signals

Rare genetic variants can contain crucial information for early cancer detection and subsequent treatment success, an inevitable level of background noise usually limits the accuracy of low frequency variant calling assays.

To address this challenge, we developed DEEPGENTM, a variant calling assay intended for the detection of low frequency variants within liquid biopsy samples. We processed reference samples with validated mutations of known frequencies (0%–0.5%) to determine DEEPGENTM’s performance and minimal input requirements. Our findings confirm DEEPGENTM’s effectiveness in discriminating between signal and noise down to 0.09% variant allele frequency and an LOD(90) at 0.18%.

A superior sensitivity was also confirmed by orthogonal comparison to a commercially available liquid biopsy-based assay for cancer detection.

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Pharmacogenomics (PGx)

Pharmacogenomic testing (PGx) is the testing for hereditary genetic variants in a patient that impact drug metabolism in the patient. By understanding a patient’s PGx makeup, treating physicians can assess whether recommended standard dosing of prescription medications will likely lead to over- or underdosing for the specific patient.

While PGx has been shown to be highly effective in avoiding medication side effects and improve outcomes, the complexity of test selection, ordering and result interpretation create obstacles in clinical adoption. Qx uses Quantgene’s cutting edge PGx platform to provide comprehensive PGx testing and translates results into easy-to-translate insights for the treating physician.

Pharmacogenomics for Improved Outcomes and Decreased Costs in Health Care

‍Numerous physiologic, pathophysiologic, and lifestyle factors influence a drug’s pharmacokinetic (PK) and pharmacodynamic (PD) profile in individuals; genetic contributions in particular play a key role. Although most drugs have a 50% to 75% response rate, some medications (eg, those used in oncology) may elicit a response in as little as 25% of patients. Pharmacogenomics (PGx) involves the study of patients’ unique genes to predict their individual response to drugs.In assessments of the 12 most important pharmacogenes, at least 1 clinically actionable pharmacogenetic variant has been found in at least 90% of people. Information culled from PGx diagnostics can provide important information about safety and efficacy associated with various pharmaceuticals with different dosage profiles in a tested patient.

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‍Pharmacogenomic Testing, Clinical Evidence and Implementation Challenges

‍Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic make-up and lowering risk of serious adverse events.

As of June 2019, there are 132 pharmacogenomic dosing guidelines for 99 drugs and pharmacogenomic information is included in 309 medication labels. Recently, the technology for identifying individual-specific genetic variants (genotyping) has become more accessible. Multidisciplinary teams—including physicians, nurses, genetic counselors, and pharmacists—will need to combine their expertise to deliver optimal pharmacogenomically-informed care.

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‍Pharmacogenomics, An Evolving Clinical Tool for Precision Medicine

Pharmacogenomics can improve patient care by optimizing the choice and dosage of medications, thereby lessening the risk of adverse events and increasing patient and provider satisfaction through the practice of personalized medicine.

Strong evidence indicates that variants in about 20 genes affecting more than 60 drugs could affect one’s response to these medications. Evidence-based, peer-reviewed guidelines are available from the Clinical Pharmacogenetics Implementation Consortium (CPIC) (, an initiative funded by the US National Institutes of Health to help clinicians interpret the results of genomic tests and apply them to patient care.

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