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Genetic testing is at the forefront of modern medicine, and powerful tools are now available to identify inherited DNA characteristics that are potentially detrimental to health or conversely show susceptibility to targeted therapies. One such service, the Sanford Chip, has been developed by Sanford Health as a screening tool to identify pathogenic and likely pathogenic genetic variations that can be used to estimate the risk of some cancers and cardiac conditions.
Genetic testing to screen for congenital defects is useful to identify susceptibility to, or the cause of, many diseases. The medical genetics department at the Policlinico di Milano – a teaching hospital in Italy’s Lombardy region – is using automation to improve the throughput of its genetic screening workflow, aiming to increase the number of diseases it can test for, and the number of samples it can handle.
CNS disorders are often seen as the greatest area of unmet medical need, and are characterized by changes or degeneration in specific subsets of neurons and other cell types in the brain. Pharmaceutical start-up Cerevance is using a new sequencing method to study specific cell types from post-mortem brain tissue, helping the company to understand the pathology of these conditions in more detail than previously possible.
Quality control of milk is important to ensure compliance with regulations and to support dairy farmers in their herd management. However, analyzing multiple milk samples from many individual cows is a time-consuming process. French laboratory AGRANIS is using a new, automated genotyping technique to analyze bulk tank milk samples, saving time and money on its testing services.
Next generation sequencing is now in widespread use throughout the life sciences sector, but the commonly used short-read sequencing methods are often subject to GC base pair bias. Combined with the inherent mapping ambiguity of the short reads, this often results in fragmented genome assemblies, creating a demand for technologies offering longer reads that simplify analysis and yield more complete sequences. Using its proprietary technology, Pacific Biosciences is able to offer longer reads, more uniform coverage and high accuracy, supporting advanced genomics, full-length transcript sequencing and epigenetics.
Canada’s Molecular Genetics Laboratory at the Pacific Biological Station uses DNA analysis to identify and track salmon from different hatcheries. Automated NGS has enabled the laboratory to introduce parentage-based tagging, a cost-effective alternative to the coded wire tag system.
Microbiome research is still in its infancy, with little currently understood about the role micro-organisms play in both maintaining our day-to-day health and the genesis of disease. Researchers at the Karolinska Institute are using next generation sequencing to establish a baseline of the microbiota present in healthy individuals as a starting point for the development of new therapeutic strategies for a wide range of diseases.
Automation has an important role to play in molecular diagnostic workflows, minimizing manual interventions to help enhance throughput. Mobidiag has developed a CE-marked, automated platform for nucleic acid extraction and PCR plate set-up, enabling high volume screening and antibiotic resistance testing for gastrointestinal pathogens.
PTP’s Genomics Platform has automated all the steps from DNA/RNA extraction to the preparation of sequencing pools. Using three Freedom EVO® platforms, comprehensive automated workflows ensure high quality data and complete sample traceability, with a daily throughput of up to 288 genomic DNA samples.
Human genetics and drug discovery are now inextricably linked, with large pharmaceutical companies, small biotech and even academic laboratories turning to sequencing data to identify potential targets for new therapies. But is this information being used to the best effect? And does genetic testing have a role to play in helping today's patients as well as tomorrow’s? Dr Pierre-Alain Menoud, Scientific Manager for Molecular Diagnostics at Unilabs in Lausanne, Switzerland, discusses the potential benefits of genetic testing for both the understanding and treatment of disease.
The Leiden University Medical Center has integrated the Freedom EVO® NGS workstation into its molecular diagnostic testing and clinical research workflows. Taking advantage of this preconfigured solution, the center was quickly able to commission the platform for routine testing, while still having the flexibility to develop new protocols and conduct research studies.
The GeT genomics facility near Toulouse has been developing a series of automated NGS protocols in collaboration with Tecan – including Illumina’s TruSeq® DNA and RNA kits, as well as Bioo Scientific’s NEXTflex™ PCR-Free Modules – on two Freedom EVO® workstations, helping to improve throughput and reliability for a wide range of projects.
Researchers in the Synthetic Biology Center at the Massachusetts Institute of Technology are using a Freedom EVO® workstation to aid the development of genetic circuits. By automating the laborious liquid handling protocols, the platform has increased throughput from just a few samples to hundreds of experiments a day.
The Swedish national biobanking infrastructure, BBMRI.se (BioBanking and Molecular Resource Infrastructure of Sweden), has initiated a pilot study for the improvement and national harmonization of biobanking procedures in clinical cytology. Following a national procurement process, the first of 10Freedom EVO® liquid handling platforms has been installed in the Clinical Cytology Biobank at the Karolinska University Hospital.