Can a little test change the life of a family forever?


Sometimes the story of a family may not have the happiest of beginnings, but it’s the rest of the story that one can choose and control. It’s easier to solve problems when you have anticipated and prepared with guidance and knowledge.


diagnostic testing, genetic counsellor

Mr. and Mrs. Purohit had returned home after the delivery, with their seemingly healthy baby. It was a tiring week filled with nervousness, joy and bliss. It occupied their minds so much so that they had forgotten about collecting their babies newborn genetic screening test report and having it reviewed.

The genetic screening report of their newborn had returned positive for a sickle cell condition. For the couple, the test result would have gone unnoticed had it not been for the genetic counsellor who called in to update the couple about the report.

After the initial call, the Purohits researched on the internet about sickle cell and armed with a checklist, the young parents had many questions for the genetic counsellor. How different the baby would be from other children of the same age? Would it limit or delay the intellectual growth? Would the baby need additional safety precautions? Does the condition need lifelong medication?
The genetic counsellor explained to the couple that a positive result does not mean that the baby definitely has the disease, but it indicates that further testing (called diagnostic testing) needed to be performed as soon as possible to confirm if indeed the baby does have the disease. The counsellor also reassured the couple that If the baby does have the disease, quick follow-up testing can allow treatment or management of the disease through methods such as a special diet.

Very often while the screening test result is positive, the follow-up diagnostic testing shows that the baby does not have the disease. In such cases, the result of the screening test is described as a “false positive”. It means that the screening test suggested an increased risk of the disease when in diagnosis the baby does not actually have the disease. False positive test results occur because some of the screening tests are designed to identify as many babies affected with treatable diseases as possible.

Fortunately in this case, the baby didn’t have a disease, but was a carrier of the sickle condition.

Sickle cells block blood flow through blood vessels and therefore immediately deprive the affected organ of blood and oxygen. In sickle cell anemia, blood is chronically low on oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including your kidneys, liver and spleen.

The couple had only recently learnt about genetic counselling and genetic testing as an important tool to assess pregnancy risk or genetic disorder risks to the newborn. Based on this learning, the couple decided to get genetic screening test done for their newborn.

Since 1952, many population groups have been screened in India and the sickle cell gene has been shown to be prevalent among some of the socio-economically disadvantaged ethnic groups. The prevalence of sickle cell carriers among different tribal groups of India varies from 1 to 40 percent. The Purohits hailed from Vidarbha region of Maharashtra where sickle cell gene has been shown to be quite prevalent.

For Mr. and Mrs, Purohit it was the matter turned out to be of less concern, as their child will not suffer from the condition. But not all babies, with their genetic carrier parents will be this fortunate. Many end-up living a life with complexities, some genetic conditions surface a few months after the baby is born. While some conditions become severe during puberty, teenage or as an adult.

Doubts, questions and anticipation are a good start for providing a healthy life to your family. Support from certified genetic counsellors can help you and your family. Thanks to digital technologies, access to this support is just a click away. The value of newborn screening today can become invaluable gift for your child tomorrow. Which part of the story would you like to choose?

Our belief is that beyond the temporary discomfort of hearing the cry from your newborn babt, it’s a small price to pay for ensuring that your baby is healthy and has the best chance for a long life ahead.

So yes, a little test can change the life of a family forever.