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Growth screening and rare disease

Published on September 30, 2026   27 min

A selection of talks on Cardiovascular & Metabolic

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0:00
This is Dr. Shur Natasha and I'm a Medical Geneticist, and we had discussed routine growth screening, and now we're going to really focus on how do we use routine growth screening to identify the kids with the most chance of real medical issues where we can intervene, and how do we assess both individual parameters and the collective pattern on those growth curves to better triage children.
0:37
Because, as I previously mentioned, we are living in a time where it is very tempting to order the latest genetic test, universal newborn screening on every child, their exome, their entire genome, but there are a lot of resources, there are a lot of ethical issues, there are a lot of incidental findings that come up if we just universally test everybody, billions of dollars. But if we use our routine growth screening and our developmental assessment our basic pediatric skills and really assess which kid needs our help, which kid do we need to pay more medical attention to, then we can use our resources more wisely, help more children and those that need help, and also keep the healthy children out of our medical system so they can enjoy life, play and thrive without a lot of our unnecessary intervention. That's the real goal behind going back to those clinical fundamentals instead of overusing our resources and testing in the wrong places. That's why I, as a medical geneticist, became so interested in this topic of routine growth screening, because by starting with those basic building blocks, we can better triage children, identify those at risk, and identify which children need to go to the right specialist.

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Growth screening and rare disease

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