MedCity News June 2, 2024
Now is the time for the entire industry to understand what newborn screening and newborn sequencing programs are, how they benefit the rare disease community, and how to maximize their benefits.
The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for infantile Krabbe disease, which is usually fatal by age two if left untreated, are most effective when done before symptoms appear. Indeed, some research suggests that one therapy is most successful when done within 30 days of birth.
Such scenarios are the driving force behind newborn screening programs worldwide. These programs rely on the biochemical...
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