DNA mutations driving cancer development are caused by different mechanisms, each of them leaving behind specific patterns, or “scars” in the genome. Using CRISPR-Cas9 technology, researchers at CeMM and the Wellcome Trust Sanger Institute at Cambridge, UK were able to show for the first time in cell culture that specific genetic alterations indeed lead to the predicted pattern of mutational signatures observed in human cancers.
When a cell develops into a tumour, something has gone terribly wrong: the uncontrolled growth, invasion of nearby tissues and finally metastasis are the result of many consecutive DNA mutations. Such an accumulation of demolished genetic material often derives from initial environmental exposures, enzymatic activities or defects in DNA replication or DNA repair mechanisms. Each of those initial mutagenic conditions creates their own pattern of DNA damage called mutational signature. Deciphering them could theoretically allow us to trace back the initial cause of a tumour, profile its properties and help find a therapeutic strategy.
However, reading those mutational signatures in tumour samples is a difficult task, as the large amount of mutations that a patient acquires during its lifetime create a noisy and uncontrolled system – even the best clinical data will, at most, provide only associations. Therefore, the group of Joanna Loizou, Principal Investigator at CeMM in collaboration with researchers from the Wellcome Trust Sanger Institute, developed an experimental setup to validate the concept of mutational signatures in cell culture.
The findings of this study not only confirm an analytical principle that describes mutational processes and cancer development, mutational signatures are a direct mechanistic read-out of specific dysfunctions of a cell. Thus, even if the underlying gene defect is unknown, mutational signatures could be used as biomarkers for the molecular characterization of tumors – a new diagnostic tool to improve the precise and personalized treatment of cancer.

CeMM
cemm.at/news/

Digestive Cancers Europe has launched a campaign to promote colorectal cancer screening at the occasion of the start of European Colon Cancer Awareness Month (ECCAM). The event took place at the European Parliament and was hosted by MEP Lieve Wierinck (ALDE).
The Basque region, the Netherlands and Slovenia show the way…

Building on the successful 2018 theme #Time4Change, this year ECCAM will be focusing on making people aware of the benefits of detecting colorectal cancer early by taking the screening test which Digestive Cancers Europe believes may save an additional 130,000 lives every year.
Every year, 370,000 citizens in the European Union get a diagnosis of colorectal cancer and 170,000 of them die. Patients who are detected early (Stage I), have a chance of survival of 90% as compared to only 10% when detected in stage IV. Despite the fact that colorectal cancer evolves slowly, over a period of eight to ten years, the majority of patients are still detected in the late stage III & IV.
This makes the case for early screening an easy one, especially because the treatment of early-stage cancer is cheaper than late stage, and over 3 billion euro of savings could be generated in the healthcare system every year.

The campaign consists of three activities:

• #My Best 10 Seconds – The launch of a Public Awareness Campaign on the importance of getting screened. This social media campaign focuses on the little effort it takes to get screened and the huge life-saving impact it may have. A video shows other small daily things that take up ten seconds of anybody’s time. In colorectal cancer screening, this little effort may save one’s life.
• A White Paper on Colorectal Cancer Screening in Europe – the paper comes with ten policy recommendations to improve the current situation in the European Union. Only
• A Roadmap for Colorectal Cancer Screening. The publication offers a step-by-step approach on how to organize colorectal cancer screening campaigns at national level, based on the good results of Slovenia, the Netherlands and the Basque region in Spain.

The Public Awareness Campaign will be launched through social media in Finland, France, Italy, Portugal, Slovakia and Spain.  The video campaign is addressed at citizens of 50 and older. Ads will appear in news feeds on Facebook and as ‘pre-roll’ on YouTube, aiming to reach over 1 million citizens. National Associations will further amplify the efforts locally. Jola Gore-Booth, Executive Director comments: “ We want to make people aware that they can have control over their own life. Many people are still hesitant to test themselves, yet it’s clear that everybody older than 50 should get screened. The effort is minor, and there are no downsides to it. The testing is easy, as is colonoscopy. There is really no reason to risk one’s life by not participating in screening programmes. Still too many people wait. That’s why our campaign is so important.”
The White Paper highlights the fact that despite the commitment from all EU Ministers of Health in 2003, only three Member States (France, Ireland and Slovenia) have organized Formal Population-based Colorectal cancer screening programmes addressed to all citizens between 50 and 74 years old. The best outcomes were achieved in the Netherlands (citizens older than 55), Slovenia and the Basque country:

• Increase in early detection from 15% to 48% of the population
• Decrease in colorectal cancer mortality
• Overall cost saving in the healthcare system

If all Member States achieved the same results, the number of citizens detected with early-stage cancer could be improved from 55,000 to 185,000, and therefore significantly increasing chances of survival. Every year. Stefan Gijssels, Executive Director comments: “ There is no rational reason not to organize formal national screening campaigns. It saves lives and money. The major barrier we see is a political one. It takes a lot of effort and time to organize, and screening campaigns require a sustained effort. The financial savings in the healthcare budget may only be visible ten years after the start, but the upside in the number of lives saved should justify screening. As we have seen, the quality of the screening programme is critical to its success. Luckily, several Member States are starting now to have a more professional approach to screening. We can assist them if needed.”
Digestive Cancers Europe represents 40 National Associations in 30 European countries and is active in the areas of esophageal, gastric, pancreatic, colon, rectum and rare cancers of the digestive tract. The Organization collaborates with Pancreatic Cancer Europe.
European Colorectal Cancer Awareness Month was established in 2008 as an Annual Awareness Raising initiative by EuropaColon, which  has now expanded to become Digestive Cancers Europe (DiCE). The Organization will give a voice to people living with all types of digestive cancer (including colorectal cancer, gastric cancer, esophageal cancer, pancreatic cancer and rare gastrointestinal cancers).
All the materials of the campaign are available on www.mybest10seconds.com

Thermo Fisher and NX Prenatal Inc. have entered into a collaboration to develop clinical mass spectrometry-based proteomics assays to monitor fetal health in utero and assess the risk of adverse outcomes, including preterm birth and preeclampsia.

This new collaboration recognizes the challenges faced by medical professionals who have few tools available for noninvasive risk stratification for adverse pregnancy outcomes. By combining NX Prenatal’s NeXosome platform with Thermo Fisher’s leading liquid chromatography-mass spectrometry (LC-MS) instrumentation, the workflows can address the reliability, accuracy and precision of the analytical solutions currently available to clinical scientists.

"Our collaboration with NX Prenatal is aiming to enable us to better evaluate maternal and fetal biomarkers during pregnancy that correlate with adverse outcomes, such as preterm birth," said Brad Hart, senior director, clinical research, chromatography and mass spectrometry, Thermo Fisher Scientific. "The co-development of a commercially available clinical mass spectrometry-based proteomics assay has the potential to provide a diagnostic solution to both clinical scientists and medical professionals offering more confidence in the evaluation of novel biomarkers that can support a safe delivery and healthy future for mother and baby."

"At NX Prenatal, we are developing novel assays and noninvasive early warning systems to detect subtle molecular changes in the maternal-fetal environment, all with the goal of improving the rate of healthy pregnancy outcomes," said Brian D. Brohman, CEO of NX Prenatal. "Our collaboration with Thermo Fisher Scientific brings together our novel NeXosome platform with their leading analytical technology with the goal of optimizing clinical mass spectrometry-based workflows, in an effort to provide the precision necessary for personalized diagnostic solutions to improve health outcomes for both mother and child."

The unique NeXosome technology is used to enrich maternal blood samples for microparticles, such as exosomes, which play key roles in maintaining certain balances between the mother and fetus during pregnancy. Aberrations in these balances have been shown to correlate with the likelihood of adverse pregnancy outcomes. Merging the NeXosome platform with Thermo Fisher LC-MS technology has the potential to generate fast, efficient and accurate data for the analysis of exosome-derived proteomic biomarkers, which may lead to increased information about maternal and fetal health during pregnancy. Ultimately, the analysis has the potential to support obstetrical care decisions in conjunction with traditional clinical assessments. https://www.thermofisher.com https://www.nxprenatal.com

The way healthcare is delivered around the globe is changing. Patients are now at the centre of how medical care is delivered and recent advances in medical technology have allowed medical laboratory testing to move in parallel with this course.
Keeping up-to-date with latest industry trends emerging from within the medical laboratory industry is critical to the lab professional, particularly in Europe, where the In-Vitro Diagnostics (IVD), clinical laboratory, molecular diagnostics and Point-of-Care Testing markets are some of the fastest growing in the world.
Regulations around medical and IVD devices in Europe are also evolving which involves important improvements to modernise the current system including risk-classification, improved transparency and new rules on clinical evidence. Under these new regulations, the classification of devices is based on risk and manufacturers need to demonstrate that their medical device meets the requirements by carrying out a conformity assessment.
Essentially, the European medical laboratory-testing ecosystem is becoming safer, faster and more efficient, and technology and regulations are evolving to put patient safety and care at the heart of healthcare delivery. Here are some of the top trends that are shaping the European medical laboratory industry in 2018:
Point-of-Care Testing (POC)
As the world becomes more connected, POC testing enters a rapid phase of development. Medical decisions can be made quickly as the disease can be diagnosed at an earlier stage. Next generation POC testing is entering the market with prospective label-free biosensors, such as electrochemical, surface plasmon resonance (SPR), white light reflectance spectroscopy (WLRS), etc., being used for improved devices. Also, a wide range of POC assays for the quantitative determination of biomarkers has been developed using portable and easy-to-use POC clinical and biochemical analysers. 3D printing also shows huge potential to improving the performance of POC devices.
The Internet of Things (IoT)
The IoT can help to reduce the rising costs in laboratory testing while also increasing access to patient care. According to a report by ABI Research, connectivity to lab equipment and the services enabled by that connectivity will increase total global laboratory test throughput to over 3.02 billion more diagnostic tests by 2020.
Laboratory Automation
Increasing the efficiency to maximise the productivity and manage costs has become critical for the long-term success of the clinical laboratory. Robotic automation is an area where patient-focused technology can make a real difference. The future lies in automated phlebotomy, transportation processes using drones and Artificial Intelligence (AI) with these advancements providing increased access to healthcare.
Next-generation DNA sequencing (NGS)
Since the introduction of many next-generation sequencing (NGS), the cost of DNA sequencing has significantly reduced and huge improvements have been made in the unraveling the complexities of sequencing data. In situ sequencing (ISS) offers incredible new opportunities for studying tissue heterogeneity, for example. NGS provides cheaper, friendlier, and more flexible high-throughput sequencing options with a quantum leap towards the generation of much more data on genomics, transcriptomics, and methylomics that translate more productively into proteomics, metabolomics, and systeomics.