Ambry Genetics, a subsidiary of Tempus AI, Inc., has recently published a study in Genetics in Medicine, highlighting the impact of their Patient for Life™ program on rare disease diagnosis. The program involves the proactive reanalysis of exome test data, leveraging newly discovered gene-disease associations and emerging evidence to reclassify genetic variants. This approach has led to diagnoses in 5% of initially negative or uninformative cases. The program is praised for its potential to transform diagnostic outcomes for patients with rare diseases, providing renewed hope and connecting families with similar experiences. Ambry Genetics emphasizes its commitment to updating clinical reports proactively, ensuring patients benefit from the latest scientific discoveries.
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