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Rapid genetic tests detect cancer risk

Every patient sample is given a unique barcode. This is intended to avoid switch-ups during automated testing. <ic:message key='Bild vergrößern' />
Every patient sample is given a unique barcode. This is intended to avoid switch-ups during automated testing. Source: Myriad

22.03.2012  - 

Genetic testing is envisaged to accompany the shift towards personalised medicine. Such testing is key for delivering the essential individual information about patients needed to assess whether they will benefit from a treatment. Changes in the genome can also give an indication of whether the patient is at particular risk of developing a specific form of cancer. The US company Myriad Genetics is specialised in such tests. In mid-March, the company opened a new laboratory in Martinsried near Munich, from which they will be providing services in Europe.

Every year about 74,000 ­women ­in Germany fall victim to breast cancer; about 17,000 die as a result of the disease. As the Robert Koch Institute has reported, this makes breast cancer the most common malignant tumour for German women. In most cases, the tumours appear to occur randomly. However, specific changes in the ­genome dramatically ­increase the likelihood that the cancer will develop.

A foothold in Munich

The US company Myriad Genetics is specialised in the detection of related genetic changes. With more than 1,000 employees and annual turnover of about 400 million dollars, the 1991-founded conglomeration counts among the industry ­heavyweights. The most important product from the Salt Lake City-based firm is a test going by the name of BRACAnalysis. This looks for mutations in two specific genes, Breast Cancer Early Onset 1 and 2 (BRCA1, BRCA2). If the test is positive, the ­person carries a risk of up to 87 percent of suffering from breast cancer in their lifetime. For ovarian cancer, the risk is up to 44 percent.

Company head Peter Meldrum (left) at the opening of the new laboratory near Munich.Lightbox-Link
Company head Peter Meldrum (left) at the opening of the new laboratory near Munich.Source: biotechnologie.de
This information is helpful even if a mutation does not necessarily lead to cancer. The results from the investigations can help assist important decisions about lifestyle, prevention, and possibly treatment. Affected women can be given particularly close monitoring, for example. Myriad has conducted more than a million of these tests in the US; the new lab in Munich is expected to carry out up to 20,000 tests per year. Myriad's choice of European ­location has been far from arbitrary. At the press conference, company head Peter Meldrum explained that they had opted for the Bavarian state capital for its central location in Europe, and for the well-trained skilled workers already based at the site. Furthermore, Munich is home to a thriving biotech scene, exemplified by the personalised medicine-oriented top cluster M4, which is supported by the Federal Ministry of Education and Research Excellence (more...).

High expense - rapid results

The analysis procedure is expensive, even when the blood samples sent by doctors for examination are processed completely automatically. Samples marked with a bar code have to be transferred between different devices. Firstly, the DNA segment to be tested is amplified by PCR, after which the DNA base sequence is read off. The subsequent sequence is then matched against a vast database.

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This helps to detect mutations that actually promote the development of cancer. Just two laboratory technicians are needed for the whole process, and the high degree of automation allows Myriad to analyse the samples with incredible speed and accuracy. Doctors will receive test results within 14 days, promises the US corporate group, while other laboratories require up to a quarter of a year to do the same job. Due to the large number of patients studied to date, according to specification Myriad can differentiate between dangerous and non-dangerous mutations in almost all cases. While only around 3% of cases throw up a "variation of unknown significance" during analyses in the Myriad laboratory, other laboratories give such an allocation to every second mutation.

It will come as no surprise that the complex procedure is fairly expensive - Myriad charges health insurance providers several thousand euros for every single test. Nevertheless, insurance companies are expected to save money. If a woman's risk of cancer can be detected through closer supervision, then the prognosis for the patient is not only better, but the cost of treatment is also reduced.

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