Cache DNA – Encapsulating the Future of Rare Diseases


Storing the biomolecules of today in order to unlock the possibilities of tomorrow

Traditionally, the journey to a rare disease diagnosis is fraught with multiple specialist visits, misdiagnoses, and numerous tests, which can extend for years. This not only places a substantial emotional and financial burden on patients and their families but also delays critical early intervention and treatment.

Implementing whole genome sequencing (WGS) early in the diagnostic process can circumvent much of this unnecessary hardship. With a single test, WGS can provide a wealth of information that might otherwise take countless specific tests to uncover, thereby accelerating the path to a correct diagnosis and appropriate treatment plan.

The advent of long-read sequencing technologies marks a significant evolution in the realm of genetic diagnostics. Unlike its predecessors, long-read sequencing has the capacity to unravel complex genetic puzzles through its adeptness at resolving structural variants—in addition to RNA and epigenetic markers—often implicated in rare and elusive diseases. This capability is critical as these variants frequently elude short-read sequencing methods, leaving significant gaps in our genetic understanding and, consequently, in patient care.

Applying WGS as a front-line tool aligns with the goals of personalized medicine. It allows for a more tailored therapeutic approach, which is crucial for managing rare diseases, where one-size-fits-all solutions are often ineffective. Pharmaceutical advancements, like the development of orphan drugs, further support this personalized approach by providing treatments for conditions that, due to their rarity, were previously considered unprofitable to address. Though insurance still does not universally cover these broad genetic tests, the price of sequencing continues to drop and the evidence of clinical utility continues to amass. As the sequencing landscape continues to evolve, secure, standardized, and comprehensive methods for deciphering molecular samples will be key in clinical research.