Genomic reanalysis of a pan-Europeanrare-disease resource yields new diagnoses
This paper highlights the Solve-RD project, a pan-European initiative that focuses on reanalyzing genomic data from individuals with rare diseases to uncover new diagnoses. Through advanced tools and collaboration between experts, the project successfully diagnosed 12.6% of previously undiagnosed cases by leveraging new knowledge, improved methods, and systematic reanalysis of existing genomic data.
Why We Should Empower Patients and Physicians with Genomic Data
Evolving Knowledge: Many genetic conditions remain unsolved due to limitations in current understanding. As new disease-causing genes and variants are discovered, having access to a patient’s genomic data allows reanalysis, potentially leading to a diagnosis years after the initial test.
Precision Medicine: With a better understanding of a patient's unique genetic blueprint, physicians can recommend tailored treatments or connect patients to relevant clinical trials and research opportunities.
Empowering Physicians: Genomic data provides clinicians with critical information to interpret complex cases, collaborate with specialists, and identify patterns that might be missed otherwise.
Patient Agency: Giving patients access to their own genomic data enables them to seek second opinions, participate in research, or advocate for themselves as science progresses.
Future-Proofing Diagnoses: Storing and revisiting genomic data ensures that as technology and knowledge improve, patients and physicians can benefit without undergoing repeated testing, saving time and resources.
This approach exemplifies the importance of maintaining and reanalyzing genomic data, not just for immediate diagnoses, but as a lifelong resource to unlock answers as scientific advancements are made.
