NIH R01 · 2024
PROJECT SUMMARY The last two decades have seen extraordinary advances in the cost, accessibility, and interpretability of genetic testing. In the context of this astonishing progress, it is striking that for many rare genetic diseases, diagnostic delay – the time between onset of symptoms and a diagnosis – has not improved. Current health care services are unable to effectively identify patients that would benefit most from genetic testing. As a result, many patients affected by genetic disease are not diagnosed for years after symptoms develop, or are never diagnosed at all, leading to costly diagnostic odysseys, health care disparities in genetic services, and preventable morbidity and…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.