Liquid Biopsy: A Transformative Diagnostic Technology

Liquid biopsy is a minimally invasive technology for the detection of molecular biomarkers without the need for invasive procedures. Circulating tumor cells (CTCs), Circulating free DNA (cfDNA), exosomes and others (microvesicles & apoptotic bodies) in the blood that can help in diagnosing the disease condition and give clues about which treatments are most likely to work for that patient. What first started as Non-Invasive Prenatal testing/Screening (NIPT) in 2011 is changing the landscape of laboratory testing for cancer, maternal care and transplant diagnostics just through analysis of a blood draw, urine or saliva sample.

According to WHO, Cancer is one of the leading causes of morbidity and mortality worldwide and it is the second leading cause of death responsible for approximately 8.8 million deaths in 2015. The increase cases of cancer has been attributed changing lifestyle and dietary changes which involves high body mass index, low fruit and vegetable intake, lack of physical activity, tobacco use, and alcohol use. One of the most important applications of liquid biopsy technologies is in the field of cancer care, where, evolution of concept of precision medicine in management of cancer is presenting many challenges with regard to early detection, companion diagnostics, prognosis, and prediction of treatment resistance. In Cancer care, the advantages of liquid biopsies are avoidance of traditional invasive approaches such as tissue biopsy, reduction of exposure of dangerous radiation, early detection of chances of development of cancer & Metastasis, identifying tumor heterogeneity for targeted treatment, prognosis & recurrence monitoring.

Today’s women are more career oriented and they marry at a late age, thus postponing motherhood leading to increased average maternal age. This trend is catching up with the urban population in case of developing countries like China and India. Advanced maternal age (over the age of 35) is associated with premature birth or birth defects in a new born infant. According to World Health Organization (WHO), the estimated evidence of Down syndrome case is between 1 in 1,000 to 1 in 1,100 live births worldwide. Approximately, 3,000 to 5,000 children born every year with chromosomal disorder and is believed that about 250,000 families in United States of America are affected by Down syndrome. The Non-Invasive Prenatal Testing/Screening (NIPT) liquid biopsy test facilitates informed decision making in continuing or terminating pregnancy in late age mothers by identifying chromosomal abnormalities of developing fetus. This non-invasive test is replacing Chronic Villus Sampling (CVS) and Amniocentesis routine invasive tests that increase the chances of having risk of abortion.

For patients suffering with end stage organ failure such as heart or liver, transplant is considered as only treatment option, however, in case of patients suffering from kidney failure, other renal replacement therapies is available, but for improving quality of life transplantation is the best treatment. Although, organ shortage is the greatest hurdle, one more challenge is the treatment of antibody mediated rejection. The currently available technique involves biopsies, antigen specific assays and other immunologic assay methods which are time consuming and often results are inferred when rejection has already set in. The non-invasive cell-free DNA based test precisely measure the donor DNA in recipient blood and monitors patient immune system against transplanted organ, thus improving post-transplant outcomes at an affordable cost. The test measures donor derived cell-free DNA (dd-cfDNA) in the transplant recipient using various technologies including next generation sequencing (NGS). Currently, cell-free DNA tests are available as a marker for clinical monitoring of heart and renal transplant rejection cases for identification of donor DNA.

CareDx, Inc., an U.S. based company is developing a test named Allosure, that measures the percent of donor derived cell-free DNA (dd-cfDNA), in heart transplantation patients. TAI Diagnostics, Inc., a Wauwatosa (U.S.) start-up is developing cell-free DNA technology for heart transplant patients. ProXeom is developing an ultra-sensitive non-invasive liquid biopsy based nucleic acid assay technologies for organ transplant rejection.

Technological advancements in liquid biopsy are expansion of applications beyond cancer diagnostics and monitoring to include other conditions such as cardiac health and infectious diseases and exploring of new sources for liquid biopsy such as miRNA, protein biomarkers and circulating MRNA. A paper based dip test called has been developed by scientists from Broad institute of MIT and Harvard, SHERLOCK, that make use of Cas13 CRISPR associated protein that bind to specific RNA to identify specific targets. This test is expected to detect tumor DNA in the near future.

The possibility of detection of health condition of an individual based on simple blood test has ignited imagination of scientific community and a flurry of activity has been unleashed. The absence of rigorous regulatory requirement as in case of a drug or a medical device also reduces the time to market for these tests which is attracting private investments. Some of the recent investments are funding of $40 million to MedGenome Labs Ltd by group of investors (HDFC, Sequoia, Sofina s.a. Zodiac Capital for expansion of clinical genomic testing of NIPT, Series C funding of DiaCarta in February 2018, to Support Company’s core XNA technology and expansion of diagnostic products. Biggest of them all investment of $900 million in GRAIL, Inc a spinoff of Illumina by Johnson & Johnson and Jeff Bezos of Amazon for development of ctDNA based tests.

BGI (China), Biocept (U.S.), CareDx (U.S.), Cynvenio (U.S.), Eurofins (LifeCodexx) (Luxembourg), Exact Sciences (U.S.), Exosome Diagnostics (U.S.), Guardant Health (U.S.), LabCorp. (U.S.), MDx Health (U.S.), Natera (U.S.) Myriad Genetics (U.S.), Laboratory Corporation of America Holding (Sequenom) (U.S.), Roche (Switzerland), Immucor (U.S.), Cynvenio (U.S.) are major companies offering liquid biopsy tests.

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