DNA methylation for monitoring and early detection of urological disorders

Bladder cancer is the 5th most common cancer in the western world, and 70%-80% of the patients are diagnosed with non-muscle invasive disease. There are estimated 400,000 to 800,000 active bladder cancer patients in the United States, as well as 1 to 2 million in Europe, who undergo local resection of the tumor and then have 1-4 follow-up visits each year due to the high recurrence rate of the disease. Follow-ups include cystoscopy procedures that are invasive and painful, are negative in 90% of cases, and detect only 70-80% of recurrences. Both cystoscopy and cytology are subjective, costly and highly dependent on the operator expertise. Therefore, there is a clear need for a non-invasive, robust and simple tool to follow-up non-muscle-invasive bladder cancer patients.

Bladder EpiCheck provides patients and clinicians with a simple, objective urine test to detect recurrence of bladder tumors. The test analyzes subtle disease-specific changes in DNA methylation markers, allowing for the detection of 92% of the high-risk (non Ta-LG) cancers. High risk cancers are important to catch as they are aggressive and most likely to progress to invasive cancer if not treated immediately. Bladder EpiCheck demonstrated Negative Predictive Value (NPV) of 99% for high-risk cancer, meaning that when receiving a negative Bladder EpiCheck result, there is 99% chance that no high-risk cancer is present.

Bladder EpiCheck is an objective molecular test meaning that it does not rely on human interpretation. The result is a clear positive/negative for presence of bladder cancer, with an additional numerical results between 0-100. Bladder EpiCheck can be used in a surveillance regimen to increase confidence in detection of recurrence and/or to reduce amount of cystoscopies.

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The test kit is designed for the qualitative detection of genetic and epigenetic markers associated with bladder cancer in hematuria patients. This test may help for discriminating of bladder cancer from hematuria patients.

Hematuria is one of the most common symptoms in urinalysis encountered by urological practice and approximately 85% of bladder cancer (BCa) patients have hematuria. In contrast, bladder cancer is found in only 5% to 20% of patients with micro or gross hematuria and in up to 60% of the patients with hematuria cause of bleeding is unknown. Nevertheless, nearly all patients with hematuria are recommended performing cystoscopy because no criteria exists despite the existence of many different guidelines to analyze the cause of hematuria. Thus ruling out hematuria patients with benign cause during primary evaluation is challenging. Bladder cancer is often diagnosed by cystoscopy with urine cytology as an adjunct. Cystoscopic examination is the most sensitive gold standard tool, which is an invasive procedure that is very expensive, very uncomfortable and not easy to perform. Voided urine cytology is the most commonly used noninvasive standard method adjunct to cystoscopy for detecting transitional cell carcinoma and recurrence monitoring, while its sensitivity is known to be as low as 20% to 50%, especially for low-grade of BCa.

The earlytect® methylation diagnostics test is urine cell-based biomarker test with proven clinical sensitivity and specificity. It utilizes the general real time PCR Instrument Systems to measure genetic and epigenetic markers in 10 ml of voided urine samples. This easy to use and fast solution requires less than 8 h of hands-on time, providing actionable results in real-time.

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A non-invasive urine test, test measures the expression of two mRNA cancer-related biomarkers (HOXC6 and DLX1). The test provides binary results that, when combined with the patient’s clinical risk factors, help the physician determine whether:

• The patient may benefit from a biopsy and early prostate detection, or
• The patient can avoid a biopsy and return to routine screening

The clinical utility of SelectMDx for Prostate Cancer is well-established:

Men identified by the test as having a high likelihood of clinically significant cancer can, upon biopsy, be diagnosed and treated sooner, while men identified at very low risk may avoid biopsy.

The test’s negative predictive value (NPV) is 95%, meaning if the test identifies a very low risk, the physician and patient can be 95% sure the patient does not have Gleason score ≥7 (GS≥7) prostate cancer and avoid a biopsy.

The test has a very high predictive accuracy (AUC 0.85) for high-grade prostate cancer, which is significantly better than the Prostate Cancer Prevention Trial (PCPT) risk calculator version 2.

MDxHealth is regulated under the Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP) as an accredited laboratory to perform high complexity clinical testing. The SelectMDx for Prostate Cancer test was developed, and its performance characteristics determined by MDxHealth. It has not been reviewed by the U.S. Food and Drug Administration. The FDA has determined such clearance or approval is not necessary. The test is intended for use as an aid to clinicians for patient management decisions about the need for a prostate biopsy in men with clinical risk factors suggesting an increased risk for prostate cancer.

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