Ever wondered why your newborn undergoes a blood test within days of being born? Many parents might know that this test - newborn screening (NBS) - is important for their baby. However, NBS tests for limited disorders making it hard for doctors to diagnose other genetic conditions without acute symptoms. In recent times, some instances of genetic conditions being detected in babies much after the screening test deemed them negative, have gained attention. This has led to a growing interest in another advanced medical technology- Newborn sequencing! It is largely believed that a follow-up newborn sequencing test can possibly boost the process of early detection of genetic conditions. So, what exactly is newborn sequencing? How different is it from newborn screening? Let’s discuss this further to get a better understanding.
Newborn screening is a test that is designed to screen all newborn babies for certain serious conditions. If the test screens indicate high risk, further invasive diagnostic testing may be necessary for doctors to reach a definite diagnosis. This delay may not only lead to harmful and irreversible effects on the newborn, but also increase the cost associated with further testing and treatment.
Newborn screening is a blood test wherein the newborn’s heel is pricked to collect the blood sample, which is then sent to the lab for the screening process.
Newborn sequencing is a method that takes a closer look at a newborn’s DNA to help in identifying genes related to inherited disorders. Any unusual change in certain genes may often be a sign of a genetic disease1.
Newborns and children under 24 months are often presented with life-threatening conditions, some of which are so rare that their symptoms can often be overlooked or mistaken for more common conditions. Such oversight can lead to slow pace of treatment, complications, or even prove fatal.
LifeCell’s Genome-Scope is one such breakthrough diagnostic test that uses DNA-sequencing for newborns to analyse more than 1500+ genes related to childhood onset conditions. It uses next-Gen technology to provide >99% accurate results. It has the potential to lower overall costs by immediately achieving diagnosis, thereby avoiding unnecessary tests and treatments. Pre-symptomatic identification and personalized medication guidance can also lead to better outcomes and thereby lower hospital costs. This test requires a physician’s referral. LifeCell assists you in getting a physician’s order if you don’t have one.
Genome-Scope also offers you both pre-test and post-result genetic counseling to help you understand the results better. And based on the outcome of the test, the expert genetic counselor can also guide you on the required line of treatment for your baby.
Traditional newborn screening has been around for years. While it effectively helps in screening various disorders in newborns, it also comes with certain limitations. With changing times, there is an increased necessity for more advanced, collaborative methods to screen for additional disorders while providing quick results. Now, consider these facts:
Statistics such as these point to newborn sequencing as the need of the hour. A newborn screening test followed by a newborn sequencing diagnostic test - like LifeCell’s Genome-Scope - can help identify and manage an existing hereditary condition at the right time. It provides insight into unexplained symptoms and helps gauge the risk of developing a condition that runs in your family. Timely detection also goes a long way in ensuring you do not spend a lot of money in complex treatment procedures later on. Most importantly, newborn sequencing helps save precious time that can make a lot of difference to the life of one person you treasure the most - your baby!