Newborn Sequencing: A Global Revolution In Newborn Screening

Parenting is a journey where every decision is up for debate. Whether it's designing your dream nursery or charting a perfect birth plan, making the right decision can give your baby the best start in life. Some decisions are easier to make, while others are equally confusing. One such confusing question that soon-to-be parents face is the importance of newborn sequencing for their baby.

Most of us are familiar with newborn screening - a set of biochemical tests that a baby undergoes within 42 to 78 hours of birth. But how and when does genetic sequencing come into the picture? Let’s look into it in detail.

What Is Newborn Screening?

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. This test is designed to screen all newborn babies for certain serious conditions. If the screening test indicates 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.

What Is Newborn Sequencing?

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 disease.

Newborn screening tests came into existence in the early 1960s with the successful execution of the phenylketonuria screening program.  With technical advancements in test methodology, screening programs and tests gained momentum and became what they are today. 

Unfortunately, detection through newborn screening is restricted. The test alone can't detect or specify the cause or risk of many rare genetic conditions that may affect babies. 

These statistics and numbers around rare genetic conditions reiterate the need to shift focus from conventional newborn screening methods to newborn genetic testing. Let’s first understand what newborn screening is.

How Are Newborn Sequencing And Newborn Screening Different?

Newborn screening and newborn sequencing have a common goal - to enable timely intervention, management, and treatment of childhood-onset or inherited conditions in a baby. 

Newborn screening is designed to screen babies for close to 50 severe-but-treatable conditions. It includes biochemical tests that utilize drops of blood from a heel prick dried onto a piece of filter paper. On the other hand, newborn sequencing or genetic testing takes a closer look into your baby's DNA to identify the risk of inherited genetic conditions that may show up during infancy, i.e., below 24 months of age.

Newborns under 24 months are often presented with rare and life-threatening conditions, where symptoms can often be overlooked or misdiagnosed. ⁶ Such oversight can lead to a slow pace of treatment, complications, or even prove fatal. Newborn sequencing helps to identify the possibility of such rare genetic conditions that enable appropriate treatment support in time.

Sequencing the whole genome was expensive and, more importantly, tough to access. However, with advancements in NGS technology, the required time and money for genome sequencing have reduced to a great extent. ⁷

With that in mind, Lifecell has introduced GenomeScope NICU and GenomeScope Newborn, two advanced genetic sequencing tests to address all concerns regarding your baby's health. GenomeScope NICU is a rapid diagnostic test to determine the genetic cause of unexplained illness in infants admitted to the NICU, whereas GenomeScope Newborn identifies the risk of inherited genetic conditions in babies before any symptoms manifest.

Both these tests collect data on clinically relevant genes and report results with a detection rate of >95% and reporting accuracy of >99%. With such precise and timely diagnoses, our genetic sequencing tests help healthcare providers to avoid unnecessary interventions and streamline the course of treatment, saving the patient’s time and reducing the overall hospital costs.

LifeCell offers mandatory pre-test counseling as well as post-result genetic counseling to help you understand the results better. And based on the outcome of the test, a physician can guide you on the required line of treatment for your baby.

Taking The Next Step!

Regardless of the health status, gaining insights into your newborn's unique DNA can be a life-changing idea. With just a few drops of blood, GenomeScope sequencing tests can help identify and manage an existing hereditary condition, decode unexplained symptoms, and help gauge the risk of developing a condition that runs in the family. With such advanced features and a long list of benefits, newborn genetic testing is the best way forward for an informed & prepared future.