Fierce Health Technology February 8, 2021
When solving a problem, taking a step back and looking at the big picture is often a wise tactic.
In the context of diagnosing patients with inherited disorders, looking at the big picture can be essential for identifying the underlying cause. Genetic testing based on whole-genome sequencing (WGS) does exactly that. This approach starts by sequencing the patient’s entire DNA, identifying all the unique changes present and then matching those changes to the patient’s clinical symptoms in order to identify which ones are causal.
Until recently, many patients with inherited disorders had no option but to follow a long, arduous and costly “diagnostic odyssey.” This odyssey often takes them from one specialist to another and requires multiple rounds of testing...
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