Laboratory diagnostics – crucial foundation for advances in medical science

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Roche Diagnostics Deutschland GmbH

Medicine gets personal

With the aid of advances made in many areas of molecular biology research including PCR and next-generation sequencing (NGS), the causes of some diseases have now been investigated relatively well at the molecular level. It is becoming increasingly evident that the medical profile of one patient is often not the same as that of another patient, even if they have the same diagnosis. There are major differences at the molecular-genetic level which are major differences at the molecular-genetic level which can ultimately decide whether or not a patient responds to certain types of therapy. To some extent, this knowledge is already being used to provide more targeted therapy to patients. The term "personalized medicine" is a well-established concept and mega trend in the industry.

The development of highly sensitive techniques to detect minute amounts of nucleic acid has paved the way for technologies such as liquid biopsy which has been emerging over the last few years, providing the basis for blood-based nucleic acid analysis for the detection of tumor cells and tumor DNA in the blood. One of the big advantages is that conventional (invasive) biopsies are unnecessary. In oncology, the technique is used, for example, to assess metastasis risk, identify therapeutic target structures and resistance mechanisms and monitor tumors. An analysis is conducted to identify driver mutations in oncogenes such as EGFR, BRAF and KRAS in order to evaluate the metastasis risk and the possibility of therapy resistance.

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Roche has a balanced portfolio to support these developments. The epidermal growth factor receptor (EGFR), for example, acts as the starting point for several downstream signaling pathways which control cell growth. The presence of an activating EGFR mutation promotes the effectiveness of tyrosine kinase inhibitors which are used, for example, in the therapy of non-small-cell lung carcinoma (NSCLC). The Cobas EGFR mutation test v2 identifies more than 99% of all clinically-relevant activating and resistance-mediating EGFR mutations, helping physicians to select the most appropriate therapy. The test can be based on samples taken from tissue biopsies or blood plasma obtained by simple, patient-friendly liquid biopsy. It delivers reproducible test results within hours. If the test for EGFR mutations is repeated, trend analysis can provide an indication of tumor progression. The system can also be used to detect KRAS and BRAF gene mutations in tumor samples.

Milestone Laboratory Diagnostics

The changing world of laboratory diagnostics: Making Best Use of the Available Options

Exploiting opportunities

Knowledge about the origin of many diseases continues to increase at an extremely rapid rate. The population is aging, but the cause of many diseases and their interactions are still not understood or if so only to a limited extent. But in almost every case, the earlier the diseases are detected, the bigger the range of possible treatment options. "In my opinion, these are exciting times in the field of diagnostics. The technology is becoming increasingly important, and the health care system needs to recognize the opportunities it creates," argues Schinecker. This is a perfect example of "doing now what patients need next".

References

[1] Mueller, C. et al (2015): Ann Emerg Med. 10.1016/j.annemergmed.2015.11.013

[2] De Luca G. et al. (2004): Circulation. 109(10);1223-5.

[3] Zeisler, H., Llurba, E., Chantraine, F., et al. (2016). NEJM

* Dr. I. Ottleben: Editorial Department LAB Worldwide, E-Mail Ilka.ottleben@vogel.de

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