Treating Cancer with Precision Medicine

Precision medicine is targeting mutations that are specific to each patient suffering from various medical conditions, including cancer, and as such, it is potentially transforming both diagnostics and treatment.

This ethos is being followed by the Institute of Pathology and Neuropathology at the Essen University Hospital, based in Germany. In this regard, the institute is depending on NGS to identify biomarkers that are linked to several major malignancies.

Image credit: Tecan

Precision medicine for treating various diseases

Rapid developments in genome sequencing technologies have resulted in a fundamental, new method called personalized or precision medicine, for treating various diseases, including cancer.

Detecting the genetic variations that cause cancer in an individual patient allows clinicians to design highly targeted therapy programs. This enhances the treatment efficacy and makes sure that the drug toxicity load for every patient is kept to a minimum, thus improving the overall results both before and after the treatment.

Targeted analysis, which often involves the use of PCR, focuses on searching for crucial mutations that have been linked with all types of cancers. For instance, KRAS or EGFR variants are generally detected in patients with lung cancer, whereas BRAF (V600E) mutation is associated with many types of cancer, such as melanoma, papillary thyroid carcinoma and, colon and lung adenocarcinoma.

NGS for targeted therapy

NGS is increasingly being implemented as a regular technique to precisely detect these slight variations, not least due to its reliability and high throughput.

At the Essen University Hospital, the Institute of Pathology and Neuropathology has now implemented NGS at the core of its operations. Dr Thomas Herold, Head of the Molecular Pathology Diagnostic Laboratory, explained: “We are primarily interested in molecular analysis and diagnostics for cancer, with a focus on lung cancers, thyroid cancers, gastrointestinal stromal tumors, and squamous cell carcinomas.”

Dr Herold added that the institute effectively acts as a molecular pathology core facility and receives about 1,500 specimens every year from facilities throughout the state and Germany. The institute simplifies sample processing for the neuropathology and pathology laboratories, right from receipt to diagnosis, using techniques such as NGS, fluorescence in situ hybridization (FISH) and immunohistochemistry.

Dr Herold further explained the normal workflow for a surgical sample. As soon as a biopsy is received, it is divided, added to paraffin, and subsequently examined using regular histological hematoxylin and eosin staining, NGS and FISH.

Freedom EVO® systems

All the NGS libraries are produced on one of Tecan’s Freedom EVO® systems. After the DNA is extracted, a customized procedure designed by the Tecan application experts is used to produce a high throughput sequencing library for the NextSeq® and Illumina MiSeq® platforms.

Previously, the same process involved two days of work, but now, the libraries are produced throughout the night without the necessity for manual input, and are all set for analysis the following day.

We chose Tecan because it was the only supplier that was open to new suggestions in our preliminary discussions. They truly acknowledged how challenging it would be to set up a new high throughput sequencing system that fulfilled our requirements; they were keen to tackle the challenge together in partnership with us.

Dr Thomas Herold, Head of the Molecular Pathology Diagnostic Lab, Institute of Pathology and Neuropathology

The first Freedom EVO® system was dispatched in December 2016, and the first half of 2017 was spent in close collaboration with the Tecan application experts to make sure that the regular diagnostic procedure was working smoothly. The group was remarkably helpful, which was highly appreciated. Since that time, the collaboration has continued to evolve as all the concerned parties have become more experienced. This made it easier and faster to implement the new protocols than ever before. These opportunities were further increased by adding a second Freedom EVO® system in 2019.

At present, one system is devoted to the diagnostic workflow, whereas the other, bigger system is applied to improve and verify protocols simultaneously, but without compromising on the regular throughput. This provides more flexibility to the institute in terms of protocol design and workflow optimization, and now the institute can also examine a bigger number of samples when required.

Intuitive and user-friendly

Dr Herold added that the Freedom EVO® system is intuitive and easy to use and the technical team only required minimal training. The touchscreen interface helps the user through the set-up procedure. Only one technician is required to load a run, and this process takes about 45 to 60 minutes, while the remaining procedure is automatically completed.

The oncologists associated with the institute anticipate a turnaround time of 10 days for results, and the latest workflow has considerably decreased the overall time of the results to just five or six days in a majority of the cases. This quick turnaround implies that the results are obtained sooner, and samples can be retested if required to offer precise and quick diagnoses for patients.

The Freedom EVO has significantly improved our workflow, providing the lab with a highly complex system that offers minimal risk of contamination and is significantly time saving over manual sample processing. The support from the Tecan specialists has been excellent, even solving many queries easily by phone we are very pleased with the service.”

Dr Thomas Herold, Head of the Molecular Pathology Diagnostic Lab, Institute of Pathology and Neuropathology

About Tecan

Tecan is a leading global provider of automated laboratory instruments and solutions. Their systems and components help people working in clinical diagnostics, basic and translational research and drug discovery bring their science to life.

In particular, they develop, produce, market and support automated workflow solutions that empower laboratories to achieve more. Their Cavro branded instrument components are chosen by leading instrumentation suppliers across multiple disciplines.

They work side by side with a range of clients, including diagnostic laboratories, pharmaceutical and biotechnology companies and university research centers. Their expertise extends to developing and manufacturing OEM instruments and components, marketed by their partner companies. Whatever the project – large or small, simple or complex – helping their clients to achieve their goals comes first.

They hold a leading position in all the sectors they work in and have changed the way things are done in research and development labs around the world. In diagnostics, for instance, they have raised the bar when it comes to the reproducibility and throughput of testing.

In under four decades Tecan has grown from a Swiss family business to a brand that is well established on the global stage of life sciences. From pioneering days on a farm to the leading role our business assumes today – empowering research, diagnostics and many applied markets around the world.


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Last updated: Aug 4, 2021 at 11:12 AM

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