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OmicSoft DiseaseLand is the disease-focused platform designed to help you harness thousands of disease-focused datasets to accelerate biological discovery. Bringing together robust data visualization and analytics tools, OmicSoft “Land” technology rapidly connects you to the most relevant insights. Explore gene expression data at the gene, transcript, and exon level, as well as whole-transcriptome analyses of differential expression. Every project in DiseaseLand is carefully curated and processed through common pipelines, allowing you to quickly find the most relevant results across projects. DiseaseLand saves you valuable time and resources, enabling you to focus on your research.

Research to beat rare diseases

With Rare Disease Day 2017 approaching on February 28, we want to show our support. As such, we'd like to share a few statistics to help shed light and increase our understanding on the state of rare disease today.

• More than 6,000 rare diseases have been accounted for, though this is complicated by:
  • Symptoms which vary from one disease to another;
  • Patients with the same disease whose symptoms often vary.
• 80% of rare diseases are genetic in origin, while the remaining 20% are due to bacterial or viral infections, allergies, environmental causes or are degenerative and proliferative.
• 50% of those affected by rare disease are children.
• In the EU alone, rare disease impacts as many as 30 million people.

It’s clear that there’s plenty of work to be done! We are proud to be a friend of Rare Disease Day 2017, organized by EURORDIS. EURORDIS is doing important work to unify international efforts to understand rare disease. This year’s slogan is “with research, possibilities are limitless.”

We couldn’t agree more. We believe that research and increased access to comprehensive tools will mitigate the many hardships suffered by those with rare disease and their families.

In fact, earlier this year, we partnered with the Rare Genomics Institute by offering them access to our Hereditary Disease Solution. By helping to raise awareness and expand efforts to combat rare disease, we hope that the rare disease community finds unity, solace and eventually, cures.

Recently the Journal of Precision Medicine ran a compelling article by Valentin Barsan, MD, about the increasing relevance of next-generation sequencing (NGS) to evidence-based, point-of-care clinical decision-making. With the many variables within any diagnosis and treatment plan, Barsan asserts that “actionable NGS reporting must therefore convey the analytic and clinical nuances of results so that reports are not misinterpreted as diagnostic finality when truth depends on a plurality of measurements.” This is a noble goal, attainable only by filtering the glut of multi-modal data through a comprehensive platform. While we agree with the article’s premise, we think a stronger case should be made for powerful NGS data analysis solutions that can distill NGS results today into diagnoses and treatment plans.

NGS is a game-changing approach to medicine; combined with high-quality interpretation and analysis powered by manually curated scientific literature and clinical evidence, it will truly advance the diagnosis and treatment of patients. Some of the earliest successes we’ve seen for applying NGS in healthcare come from the cancer field, and our bioinformatics solution for clinical labs targets somatic and hereditary oncology cases. QIAGEN Clinical Insight (QCI) is a secure web application that classifies variants, identifies treatment options, and performs geographic clinical trial matching. QCI’s evidence-based approach evaluates genomic variants against more than 10 million relevant biomedical findings, professional association guidelines, publicly available databases and annotations, drug labels, and clinical trials. It also integrates with the Allele Frequency Community, the world’s largest repository of ancestral and ethnic diversity data.

QCI focus on accelerating insights and the tool allows medical teams to rapidly home in on actionable variants to improve treatment and clinical-trial matching. It also makes it possible to build private, experience-based databases with each variant assessed and reported to increase the speed and accuracy of subsequent interpretations. With QCI, clinical labs can consolidate all parts of the variant interpretation and reporting process while saving time and zeroing in on clinically relevant data. To Barsan’s point — the many complexities of disease must be unraveled, analyzed and integrated before diagnosis and treatment can be fully realized; we believe that a powerful bioinformatics solution will be critical to achieving this vision.

Learn more about QIAGEN Clinical Insight