As we understand from this edition “Newborn Screening”, newborn screening is a set of tests done for a baby on day two or three of life. This is a set of disorders curated by the American Council for Medical Research (ACMG) which is generally used as a framework for screening. About 55 disorders are included in this panel which is genetic in nature, some of them related to metabolism, few miscellaneous tests such as hearing loss and some basic physical examination too. Taking this story another step ahead, how do you know that this is an all-fit model? How do you deal with the plethora of diseases and disorders that are excluded in this screening panel? What does India have to do to make this screening more effective?

Dr Subhadra Dravida, Founder of Transcell Biolife, discusses with us. She notes the fact that there is a need to moderate the adopted panel to the Indian population after good statistical epidemiological and genetic studies are conducted by geographical classification. Even if service providers offer customisation of the panel, it is mostly a borrowed hypothesis and families have no choice but to settle down to the features that are not 100% addressing the context, cause and symptoms. While talking about how we can upgrade the current scenario for a more productive scheme to the Indian population, she suggests that there is a need for a deep understanding of the science behind the addressed medical condition playing in parallel with its statistically significant analyses of occurrence, prevalence and management. This stands well with the recent announcement from the central government to set up 117 specialized laboratories across the country that aims to study specific inherited diseases among the Indian population and offer genetic testing and counselling services. When these factors interplay well, they will lead to real-time innovative and contextual technologies that will truly add value to the concerned family and healthcare deliverables in general.

In sync with Mr Vikas Bhatia’s views, she stresses upon the essentiality of clinicians collaborating with fellow members, other medical and academic institutions in order to understand, propagate and recommend relevant procedures such as newborn screening. Involving themselves, scientists and the industry in disseminating such information through important forums such as television, internet, hospitals and paramedical associations will form the foundation for expanding the bandwidth of developing diagnostic methods, treatments and affordable drugs to the Indian patient population. Signing off, she believes that every couple planning to conceive should understand and opt for an exhaustive genetic profile for their newborn during the term period itself. Her company, Transcell Biolife offers another vertical of securing the child’s future by storing and gene profiling of cord stem cells of the newborn baby. Read about the company’s journey so far and the services they offer, here.