The Standard Set of Disorders included in Newborn screening

Mr Thomas Mookken: For newborn screening perspective, we have a panel. Around I think in 2006 or 2007 there was a guideline from the American Council of Medical Genetics (ACMG) where they had primary and secondary panels for newborn screening and the initial panels were of 54 disorders. So most states in the US follow the ACMG panel. And they use it. They don’t do everything in the ACMG panel, they do some of it. The ACMG panel is based on a lot of research, a lot of criteria, a newer version of criteria – a modified version of that. It is easy to detect, easy to screen, easy to treat, the cause and everything – that’s how it makes a panel. And, you get into the panel. So that’s a guideline. And that guideline has evolved into something called the Recommended Universal Screening Panel (RUSP). That is all in the US. Other labs in the world except Europe, especially Canada, US, New Zealand, Australia and India to some extent, we follow the RUSP. Now, all the disorders in RUSP, we don’t follow. That’s across the world. They follow the subsets of RUSP. But they do about 80-90%. For example, here in screening, you do it at the bedside and you don’t need a central lab to do that. You can’t do a CCHD that is, Critical Congenital Heart Disease. That is again using a pulse oximetry instrument. But you do it at the bedside. But the remaining samples, you the remaining things comes over to a central lab. Now RUSP is evolved from 54 to I think 57 – 58 disorders. And it keeps evolving. It goes through a fair amount of criteria which through the government of the US and gets in place. So we follow that and we do about in 57 – 58 disorders, we do about 50. It’s all based on dried blood spot. Our panel is based on that. And abroad it is usually, a public health program. They have a standard panel. The state decides on a panel and they just execute that panel. India has no state programs. There are state programs but every hospital has a separate panel and it’s not mandatory in India and also the patients or the parents have to pay for it. Due to that cost factor, hospitals have different sets of disorders. There are 2 disorders, 3 disorders, 5, 48 and we have to do that. There is no standard panel.

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Suchitha Champak

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I am the Founder and Managing Editor of SciRio, a digital ecosystem for science communicators who want to communicate science to people who are non-experts in any fields of science. After stints as a Research Associate at the Indian Institute of Science and Centre for Human Genetics working on Cancer Research and Developmental Biology, I shifted gears to communicating science and become an entrepreneur.

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