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The transformative potential of WGS in clinical practice in Germany
Jan 7, 2025
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Introduction
Whole Genome Sequencing (WGS) is rapidly reshaping healthcare worldwide by enabling earlier diagnosis, individualized treatment, and preventive strategies. In Germany, Dr. Olaf Horst Riess, Director of the Institute of Medical Genetics and Applied Genomics in Tübingen, offers a firsthand look at how WGS is revolutionizing both rare disease diagnosis and broader public health approaches. His insights underscore Germany’s commitment to harnessing genomic data for patient-centered care.
“If the cost wouldn’t have gone down so dramatically, we could not afford to do large-scale sequencing as a country.”
— Dr. Olaf Horst Riess
Europe’s Collaborative Framework
Germany’s success in genomic medicine is bolstered by participation in European research programs. By working closely with other nations under the guidance of the European Commission and initiatives like Horizon Europe, scientists can share data, leverage advanced sequencing platforms, and streamline efforts to solve complex genomic puzzles.
Concerted Action: Joint European efforts allow researchers to pool resources, accelerating discoveries for both rare and common diseases.
National Focus: Germany’s healthcare system integrates research findings directly into clinical care, emphasizing immediate patient benefits.
Driving Advances for Rare Diseases thanks to Genomics
A key part of Dr. Riess’s work focuses on unsolved rare diseases, often with strong genetic underpinnings. Programs like Solve-RD—a major European initiative—use WGS and re-analysis of exome data to identify missed mutations:
Re-analysis of Unsolved Cases: Incorporating functional genomics and next-generation sequencing (NGS) techniques to tackle the 20%–30% of patients who remain undiagnosed after initial screening.
Long-Read Sequencing: Useful for detecting complex structural variants and epigenetic patterns (e.g., methylation) that may drive rare disorders.
“We reanalyzed all the data, made functional genomics and new sequencing technologies to really find out the cause of missing genetic mutations.”
— Dr. Olaf Horst Riess
Expansion of Genomics testing to Common Diseases and Cancer
While rare disorders remain a focal point, Germany is progressively applying NGS to common diseases and cancer. From targeted screening programs to liquid biopsy methods like cell-free DNA analysis, the versatility of NGS enables:
Rapid Turnaround: Faster diagnostics support timely interventions.
Deep Sequencing: Short-read platforms are ideal for examining large regions at high depth, crucial for cancer and complex traits research.
Preventive Medicine: By pinpointing disease risks early, WGS aids in implementing lifestyle modifications and timely clinical interventions.
Sequencing Technological Innovations and Affordability to serve clinical applications
The plummeting cost of genome sequencing paves the way for broader integration into daily medical practice. Dr. Riess highlights how affordable, high-throughput solutions—such as those from MGI—are reshaping the sequencing landscape:
Orthogonal Validation: Combining short-read and long-read technologies increases accuracy, identifying variant types that might otherwise go undetected.
Scalable Solutions: Advanced platforms allow for systematic population-wide screening and personalized medicine approaches.
“We are deeply impressed about the developments of MGI technology. They think the technology from bottom up.”
— Dr. Olaf Horst Riess
Genomics provides insights from Treatment to Prevention
Genomic data is more than a diagnostic tool—it holds promise for disease prevention:
Early Risk Detection: WGS can identify predispositions to cancers and metabolic disorders, empowering patients to make proactive health choices.
Targeted Therapies: Precision treatments based on individual genetic profiles can enhance efficacy and reduce side effects.
“If we use genomics the right way, we can prevent diseases.”
— Dr. Olaf Horst Riess
Conclusion
Germany’s integration of Whole Genome Sequencing exemplifies the transformative power of genomics. Driven by falling costs, European partnerships, and visionary researchers like Dr. Olaf Horst Riess, the nation is shaping a healthcare paradigm that spans rare diseases, cancer, and beyond. This shift—from reactive treatment to proactive prevention—underscores how WGS can revolutionize modern medicine, offering hope to millions of patients at home and worldwide.
References
Institute of Medical Genetics and Applied Genomics, University of Tübingen
Whole Genome Sequencing
ngs
Rare Diseases
Preventive Genomics
Long-Read Sequencing
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