LifeCell launches Integrated DNA testing for more accurate results & reduced false positives


New Delhi, India’s premier stem cell bank and mother & baby diagnostics company LifeCell International announced the launch of “RightStart” – the world’s first Integrated DNA testing for Newborn Screening to detect over 50 medical conditions.
This technology has been proven to be more accurate than current screening methods and has also been found to drastically reduce the false-positive reporting thereby avoiding unnecessary follow-up tests and anxiety of the parents.
In current process of newborn screening, a few drops of blood are obtained through heel prick from the baby’s heel, usually 48 hours after childbirth, and is analysed by profiling a specific set of metabolites present in the blood. If an abnormal metabolic profile is found further testing is recommended for confirmation.
The confirmatory test would need an additional sample to be taken once again from the child. Since most routine screening labs do not have DNA testing capabilities, the child is referred to specialized labs leading to further delays in diagnosis & treatment apart from causing further agony for the parents. The DNA based test, is considered a gold standard and is most reliable for confirmation as it does not get impacted by interferences such as medications, nutrition, temperature, or preterm status.
LifeCell’s “RightStart” Newborn screening, which adopts an integrated DNA testing approach, does not require an additional sample since a portion of the sample collected initially can be used. Also no additional costs would need to be incurred by the parents. “RightStart” provides more accurate results and also saves time & effort enabling a speedy diagnosis to initiate treatment. More importantly, the parents are alerted to the risk only if the DNA tests are positive thereby reducing parental anxiety.

Ishaan Khanna, CEO of Diagnostic & BioBank Divisions, LifeCell International said “As a leader we always bring the first and best to the country and “RightStart” is another milestone achievement. For the first time over 50 conditions can be tested with ‘RightStart’s integrated DNA testing in the country with a faster throughput and higher accuracy of test results”.
Citing an example of a condition called Congenital Adrenal Hyperplasia (CAH) it was observed that less than 10% of alarms raised with current screening technologies are finally confirmed as being truly being affected by the condition with DNA testing. Hence with DNA testing the predictive power increases to 100%1, thereby eliminating any false alarms.
Dr Ratna Puri, Chairperson, Institute of Genetics and Genomics, Sir Ganga Ram Hospital added, “New Born screening today is one of the most widely used pediatric health initiatives in the world for timely detection, diagnosis and intervention of treatable genetic disorders. For these group of Disorder’s early diagnosis and initiation of treatment is associated with good outcomes. We have preliminary data in India of the utility of NBS but implementation at a nationwide level as a part of a public health program is awaited. However pockets in different states in India have taken the initiative and started newborn screening. Newborn screening and early diagnosis is advantageous in all circumstances.
Molecular confirmation of the disorder flagged off in the NBS screen is a new initiative that will help to accurately confirm the diagnosis for the families. Testing on the stored blood spot for confirmation decreases family anxiety and repeated clinic visits and resampling.”
Dr Sunita Bijarnia Mahay, Senior Consultant, Sir Ganga Ram Hospital shared her views saying “I’m really pleased with the ‘RightStart’ initiative from LifeCell as it gives the doctor as well as the family the much needed confirmation of screening results without much hassle and waiting. It would enable babies to be put on treatment fairly quickly leading to maximum benefits”.
With LifeCell launching the new RightStart Newborn Screening program the laboratory facility at Chennai has been upgraded with complete capabilities to perform these specialized DNA testing in-house.
LifeCell anticipates substantial increase in adoption of the RightStart Newborn Screening and is collaborating with PerkinElmer, a global market leader in newborn screening. LifeCell will use PerkinElmer’s fully automated and high throughput analyser – the Genetic Screening Processor® (GSP) instrument, a first by a commercial lab in India. Also as another first-in-India, LifeCell will incorporate PerkinElmer’s next generation NeoBase™ 2 non-derivatized MS MS kit, which can screen for all the common amino acid, organic acid and fatty acid oxidation, as well as purine and peroxisomal metabolic disorders – more than any other commercial kit available in the market today.
Further LifeCell had tied up with Dr Mary Seeterlin, who has a decade of experience in newborn screening program at the Department of Public Health in Michigan, and is the co-author of several guidelines and publications on the subject, as a consultant to the program.
“LifeCell’s mission is to improve outcomes for newborns in India, giving them the best start at birth. Towards that goal we’ve made a major step forward by bringing in the world’s best partners, equipment, consumables, advisors, and testing programs. This centre-for-excellence will help bring together the power of metabolomics and genomics platforms to provide holistic approach towards screening of rare disorders” said Mayur Abhaya, Managing Director, LifeCell International.
India is the world’s largest birthing country with over 25 million births a year, and is unfortunately having the highest number of infant mortality ratio too. A large number of these deaths can be prevented by screening newborns at birth for a variety of inborn genetic and metabolic disorders, even before the symptoms start showing up so that they can be managed at an early stage to reduce or even eliminate the burden of disease”.
Globally millions of babies are screened through nationwide programs in over 60 countries every year. However, in India the adoption of newborn screening has been weak largely due to low awareness and also due to lack of reliability of the test results.

Reference

Vinod Kumar

Health Journalist & writer. Editor of monthly health magazine "Health Spectrum."