More than 1 million breast tissue biopsies are performed every year in the United States alone, but only about 20% of these biopsies result in a cancer diagnosis - a conversion rate that indicates that many of the procedures were unnecessary. Frost & Sullivan has identified liquid biopsy among the 50 technologies that could have greater insight to the diagnosis and close the current gap in diagnosis.
Biopsies refer to the extraction of a representative sample of cells—or more often, tissues—to determine the presence or the intensity of disease. The biopsy sample is observed under a microscope or subjected to biochemical assays. Biopsies are an integral part of medical diagnosis and often are a part of surgical procedures, helping surgeons plan the procedure, ascertain surgical margins and ensure that cancerous tissues have been completely removed.
According to government health databases and estimates from cancer research organizations, more than 1 million breast tissue biopsies are performed every year in the United States alone. Only about 20% of these biopsies result in a cancer diagnosis. While this is great news for patients and their families, the poor conversion rate indicates that in the overwhelming majority of cases, the procedure was unnecessary. Besides the cost and time invested in the procedure, tissue biopsies are usually invasive, resulting in pain or discomfort, a scar, and above all, the psychological trauma of undergoing the test. Several million more tissue biopsies are estimated to be performed each year to diagnose other types of cancer, musculoskeletal diseases and neurological disorders.
The emergence of liquid biopsy tests promises to alleviate the overdependence on conventional tissue biopsies. Liquid biopsy refers to the sampling and analysis of a non-solid biological tissue, relying on capturing circulating biomarkers that indicate any underlying disease conditions. Frost & Sullivan has identified liquid biopsy among the 50 technologies that it believes will have considerable technological and commercial impact on the health care industry.
Several types of liquid biopsy tests are possible, depending on which biomarker is being sought and which condition is being studied. Three biomarkers are commonly tested for circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), cell-free tumor DNA (cfDNA) and extracellular vesicles. It has been observed that the information obtained from trace quantities of tumor fragments circulating in the blood can provide not only accurate information about the disease, but also insights into which treatments are likely to work. The painful and laborious tissue extraction procedure is, hence, reduced to a simple blood test.
In a consumer survey conducted by Frost & Sullivan, respondents identified seven companies that they associate with liquid biopsy based on current offerings as well as the future product development outlook. They are: Life Technologies (Carlsbad, Calif.), Bio-Rad Laboratories, Inc. (Hercules, Calif.), Menarini Silicon Biosystems, Inc. (formerly Veridex; Philadelphia, Pa.), Fluidigm Corp. (San Francisco, Calif.), Qiagen (Hilden, Germany), Raindance Technologies (Lexington, Mass.) and Illumina, Inc. (San Diego, Calif.). Besides these large corporations that have developed assays and instrumentations for the analysis of the liquid biopsy sample, numerous smaller companies and academic research labs are focused on developing liquid biopsy platforms. A summary of notable innovations is provided here.
Strand Life Sciences (Bengaluru, India)
Strand Life Sciences has developed a liquid biopsy test called Strand LB, a sensitive ctDNA that can detect tumor DNA fragments from a simple blood draw. According to the company, this test is capable of detecting one molecule in 1,000. Another measure of sensitivity and accuracy offered by the company is that Strand LB can detect ctDNA in 35% of early-stage cancer patients and in more than 90% of metastatic tumors. Strand has partnered with the Mazumdar Shaw Center for Translational Research, Bengaluru-based premier research organization, to clinically validate the platform for a variety of indications including colorectal, bladder, lung and breast cancers.
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins (Baltimore, Md.)
Researchers at the Kimmel Cancer Center have developed CancerSEEK, a multianalyte platform that can diagnose up to eight cancer types by identifying their respective signature circulating biomarkers. This test is designed to detect 16 signature genetic biomarkers (DNA fragments) and eight protein biomarkers in a blood draw. Interestingly, the test’s sensitivity and specificity were above 90% for certain cancers that currently have no screening tests. After validation through clinical studies involving larger patient populations, the research team believes that this platform is well-suited for commercialization because a multianalyte test for less than $500 would greatly help cancer screening programs.
Anpac Bio-Medical Science Co. Ltd. (Shanghai, China)
In early 2018, the Chinese company announced that it had developed a liquid biopsy platform that could diagnose as many as 26 types of cancer. Using its proprietary Cancer Differentiation Analysis (CDA), the company is able to selectively diagnose different types of cancer, with accuracy ranging from 75% to more than 90%. This platform has reportedly been validated with more than 60,000 cases, and has been used in several leading hospitals and cancer centers around the world.
University of Warwick (Coventry, England)
While cancer is certainly the largest application for liquid biopsy, it can also be used for other indications. For instance, researchers from Dr. Naila Rabbani’s systems biology team at the University of Warwick have developed a blood test for the detection of autism spectrum disorders. The researchers have established a link between autism and certain damaged proteins in the blood plasma. Identifying these defective proteins has been claimed to be a means to diagnose autism and other cognitive and behavioral disorders at an early stage. This test has been performed on a pilot scale with safe and encouraging results. The team is in the process of taking this test to clinical use.
The Road Ahead
Artificial intelligence will play an important role in disease diagnostics going forward. Already, advanced analytics platforms are being used to decipher weak signals that are obtained from assays and tests. Machine learning in particular could seek out direct and less-than-obvious correlations between genetic mutations and protein defects and disease incidence.
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