Telomere Associated Variables: a validated platform for cancer diagnosis and monitoring Telomeres, the protective ends of chromosomes, are a fundamental factor in the aging process and also in cancer development. European researchers have taken advantage of this to develop an innovative blood test that will revolutionise cancer diagnosis. Health © Life Length Part of the natural aging process, telomeres get a little shorter every time cells replicate, and once they reach a critical length, cells senesce. In cancer, there is an abnormal or accelerated shortening of telomeres. Therefore, telomere length determination could be exploited for cancer diagnosis and for monitoring patient response to therapy. Measuring telomeres in blood The EU-funded ONCOCHECK project developed the proprietary Telomere Analysis Technology (TAT®) assay that can measure telomere associated variables. It is based on the fact that upon cancer development, the distribution of an individual’s telomere length in blood changes. As Life Length CEO and project coordinator Stephen Matlin outlines “Telomere Associated Variables (TAVs) constitute a promising clinical biomarker for both, haematological and solid tumours and can be performed in a simple and inexpensive way by a blood test.″ TAT® is the only accredited clinical laboratory test that measures telomere distribution by quantitative FISH. While most existing solutions provide mean telomere length analyses, Life Length is the only company in the world able to measure short telomeres in individual cells. Importantly, the assay is high-throughput, reproducible and accurate, and can be performed in practically any cell type. Life Length provides a complete evaluation of telomere biology by combining the TAT® assay with the quantitative telomere repeat amplification protocol (Q-TRAP), which measures telomerase activity. Telomerase, an enzyme capable of elongating and repairing telomeres, is reactivated in cancer cells, enabling them to escape senescence and become immortal. Using a combination of machine learning, sophisticated statistical analysis and AI, scientists developed algorithms that can classify and identify individuals with altered telomeres. Clinical evaluation and future perspectives During ONCOCHECK, scientists evaluated TAVs in clinical studies including prostate cancer screening, early detection lung cancer and CLL prognosis, as well as for monitoring haematological transplant and solid tumours in children. Life Length, an SME with over 20 highly qualified scientist and clinically trained personnel, successfully carried out the largest clinical observational studies in telomere diagnostics. More than 5 000 patients were recruited in 32 hospitals and over 6000 samples were analysed in Life Length´s fully accredited and licensed clinical laboratories. The clinical observational study for prostate cancer screening involved 1 200 men that underwent prostate biopsies and demonstrated improved diagnosis. As Matlin emphasises: “We can reduce the number of biopsies being performed by as much as 50 % without false negatives, thereby saving hundreds of thousands of men from having unnecessary, painful and invasive procedures.″ Apart from significant financial savings, this also overcomes biopsy-associated side effects such as infections, nerve damage leading to erectile dysfunction and urinary incontinence. Considering that there are more than 35 million of people affected by cancer all over the world, there is a great business opportunity in the marketing of ONCOCHECK. The test is not only a universal solution for cancer monitoring but its cost-effectiveness, simplicity and proven effectiveness will help oncologists evaluate disease progression in patients affected by the great majority of cancers. Keywords ONCOCHECK, cancer, telomere length, blood test, telomere analysis technology (TAT®), telomerase, Q-TRAP
