Genomic Data Needs Standards and Best Practices to Succeed in the Clinic

 

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As more and more scientists upload exome and whole-genome data to analyze with QIAGEN’s Ingenuity applications, we are reminded of the high stakes for ensuring that genomic data formats are standardized so they can be shared across research and clinical enterprises.

To that end, we are proud to be a member of the Global Alliance for Genomics and Health. As many blog readers already know, the Global Alliance (or GA4GH) is an international coalition of more than 150 organizations that have joined forces to come up with standards and best practices for genomic data. The ultimate goal is to advance the use of genomic data in the clinic for improved diagnostics, treatment, and basic understanding of disease and drug response.

The Global Alliance principles really resonate with the QIAGEN Silicon Valley team. One of the major challenges highlighted by the alliance is that of data access, integration, and interoperability; they point to data silos as a real barrier to advancement in clinical genomics. All of our products, and the Knowledge Base engine that powers them, are based on the tenet that discovery and analysis happen most effectively when data is completely integrated with consistent formatting and ontology.

As scientists and clinicians around the world gear up to generate more genomic data than we’ve ever seen before, it is critical that we as a community establish standard data formats, compatible analysis tools, and best practices for data interpretation.

Another aspect of the Global Alliance is to encourage data sharing, something that we’ve championed for years. The Publish and Share tools in our products allow customers to make their exact analysis workflow transparent and reproducible for others in the field, as well as enabling other scientist to reanalyze the original data in different ways. These features were designed to improve the overall quality of science and to let researchers be as open as they wish to be.

With so much at stake, the Global Alliance will take time to develop its best practices. We look forward to working closely with all of the other members to build something great for this community, and to make genomics as useful as possible in mainstream medicine.