Newborn Screening Using a Dried Blood Spot

Dr Rohit Cariappa: I think one of the main driving forces was the simplicity of the collection of samples. It’s a dried blood spot. So ease of collection as a dried blood specimen. It’s a heal prick taken from a baby’s heel so it’s a homogenous sample collected on a filter paper of certain quality. And then that contains information about the baby and previous history of the baby, etc. That’s sent to the lab and we assay it and then send that back to the parent. That piece allows samples to be collected all over India and even abroad to be collected and couriered to us by regular mail or courier mail. The samples are pretty stable and the analytes that we measure are for the most part very stable like up to 15 days at ambient temperature. If we do see issues then, which we see rarely then it’s very simple – just contact the provider to send another specimen. Most doctors today, after ten years are aware of it, about newborn screening. We have doctors to educate the other doctors about what the service is. And it’s a tool for them if they have a sick child to explore. There could be a metabolic reason for it. I think doctors have the obligation or the responsibility to treat a sick baby and we are one of the tools for them. They send them for metabolic testing by sending us a few drops of blood. They also do MRI, CAT scan, autoimmune disorders etc. But we are a tool for doctors to get a very reliable result is a metabolic rule in or can be ruled out for the baby’s symptoms. As far as working with us, either they contact us or marketing people contact them and they have a Memorandum of Understanding with us and they start sending us samples. It’s a very simple procedure. We send them the envelopes and the cards, they prick the baby, collect the blood and then they send it. Then the nitty gritty of the process is when we get an ambiguous result or when we get a positive result, we definitely call, tell them this is positive. Of course, in the back end, we verify the result, do the analysis, making sure that the two different blood spots are both abnormal. If it’s in the grey area if it’s not completely positive or negative if it’s in the borderline cut-off we talk to the doctor. I do that. I call the doctor and them about the results and they send us some clinical information that makes the interpretation a lot easier. And then I get him on my side and give him the data we have or I go on to his side to view the data he has and we make a combined decision to see further testing or to call it normal or get a repeat specimen as the case may be. So that’s a critical piece mainly that is the interaction with the doctor and I call it my trump card. Apart from the dried blood spot, apart from the clinical information given, talking to the concerned treating physician, the doctor in charge of the baby, I get the information to take a good decision on an ambiguous result. Of course, the easiest would be to get a repeat blood spot which we do very frequently because if the metabolite is abnormal initially, a repeat specimen of time if it’s a true positive, will increase in concentration in the blood. And we pick that up in the second test and that is a very powerful approach for an ambiguous result.


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