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New era for cancer diagnostics


Liquid biopsies, sequencing and upgraded software tools are among some of the recent and ongoing trends in cancer diagnostics.

Developments in the diagnostic sector have vastly improved the ability to identify cancer diseases at the early stages of tumor formation. However, several cancer types cannot be identified early enough, while others may be recognized in time but end up being treated too severely. In this issue Nordic Life Science takes a look at some ongoing trends in cancer diagnostics in order for the healthcare sector to be able to provide more individualized, effective and quicker cancer care.

The gold standard in the future

One of the hottest trends in oncology is liquid biopsies; a method that many believe will be the gold standard in the future. For cancer patients a biopsy, an uncomfortable and risky procedure developed to extract tissue for diagnosis or analysis, is a necessary evil. Liquid biopsies, simple blood tests, are now being provided as an easier way of replacing the biopsy. The tests take advantage of the fact that DNA fragments from tumors can be found in the blood of patients with cancer. Advocates of the method highlight several advantages; the tests are non-invasive, they can be easier to repeat periodically and could be used to detect the worsening, for example of breast cancer months before this would be seen by CT scans. Some also believe that such blood tests could be used on healthy individuals to screen for early detection of a variety of cancers.

Tiny fragments

Numerous companies are now coming to market with these types of tests. In Sweden, Immunovia offers a liquid biopsy, known as IMMray. Immunovia’s core diagnostic platform, IMMray, creates a biological snapshot of an individual’s immune response based on the presence of specific proteins associated with certain types of cancer. With liquid biopsy it is possible to check for tiny fragments of circulating tumor DNA, ctDNA, in a patient’s plasma that have been shed from any tumor in the body. The Lund University spin-out company Saga Diagnostics has developed companion diagnostics for blood samples, allowing detection and analysis of circulating tumor DNA in the bloodstream. A regular blood sample reveals not only the presence of cancer but also the quantity of tumor-specific gene mutations, which can help guide therapy. The test can also be applied to tissue biopsies themselves to identify mutations that are below the limit of detection of conventional methods.

Genetic drivers

Sequencing enables the possibility of examining multiple genes in a single disease-targeted clinical test, defining the cancer by its genetic drivers. Genetic testing opens up for treating with new types of drugs that target the genetic changes. The latest sequencer technologies permit analysis at the level of DNA sequencing, RNA sequencing and micro-RNA sequencing. DNA sequencing identifies all relevant mutations at the same time. A lot of companies are active in this field and the method is becoming standard mainly in the United States.

“In the US all of the major cancer centers are sequencing DNA panels and are now also looking towards RNA. In Europe this is still not happening in routine settings, making us lightyears behind the US,” says Gitte Pedersen, CEO of Genomic Expression, a Danish company that uses RNA sequencing of the tumor.

RNA sequencing can identify which of the genes are active in a tumor and can match these to approved drugs. RNA, in contrast to DNA, can predict response to the new immune therapies as well as targeted therapies. Genomic Expression has discovered a method for sequencing samples from cancerous tumors where they analyze RNA inside the cancer cells and use algorithms to find the best treatment. Through their OneRNA report a list of approved drugs and drugs in clinical development that are specifically targeted to the individual cancer genetic alterations is provided. Gitte Pedersen has high hopes for the future of cancer diagnostics and the potential of comprehensive genetic testing.

“1.7 million patients in Europe face an evidence-based death from cancer every year. 100 million USD is spent on cancer drugs while 8 million patients die. We have to change our way of treating and diagnosing cancer. We can more effectively treat cancer by genetically matching the patients to a drug that actually works. The technologies are here. We need to start utilizing them in pilot programs to get both doctors and payers comfortable with them. This will save lives and make healthcare more effective. I think we are going to see a major paradigm shift.”

Machine-assisted analytics

The field of digital microscopy is also rapidly evolving, enabling easier sample management, remote viewing and consultation. In order for pathologists to keep up with the accelerating work pace machine-assisted analytics are needed. One company that has drawn on that is Finnish Bio-IT startup Fimmic. The company has developed a cloud service platform that employs machine vision and automated image analysis to support microscopy-based diagnostics. The software stores, shares and analyses large images of tissue and cell samples.

Photo: Fimmic team