Next-generation sequencing (NGS) in Newborn screening offers a powerful, high-throughput method to detect genetic disorders early in life. Unlike traditional screening methods that test for a limited set of conditions, NGS can analyze multiple genes simultaneously, identifying a wide range of genetic mutations associated with inherited diseases. This approach allows for more comprehensive screening, early diagnosis, and personalized treatment, potentially improving outcomes for newborns. As NGS technology becomes more accessible and cost-effective, its integration into routine Newborn screening could significantly enhance the early detection and management of genetic conditions.

Limitations of the Traditional Methods

Limited Number of Conditions Tested with relatively less accuracy

Traditional Newborn screening methods, such as Immunoassay and tandem mass spectrometry (MS/MS) or dried blood spot testing, typically test for a limited set of conditions (usually 50-60 common disorders). This can result in missed diagnoses for rare or genetic disorders that are not included in the screening panel.

• Inability to Detect Genetic Mutations: Primarily identify biochemical markers or metabolic abnormalities associated with specific diseases. However, they cannot detect underlying genetic mutations or identify “carriers” of certain genetic conditions.
• False Negatives and False Positives: Traditional screening methods may yield low sensitivity and specificity – false positives (indicating a disease when none is present) or false negatives (failing to detect a condition), leading to unnecessary follow-up testing or undiagnosed conditions.
• Limited Information on Rare or Uncommon Diseases: Traditional newborn screening is often focused on a predefined panel of disorders, missing rare, new, or emerging conditions that may not yet be part of the standard screening protocol.
• Invasive Follow-Up Testing: Screened positive results from traditional screening tests, follow-up testing (such as biochemical testing or tissue biopsies) may be needed to confirm a diagnosis, which can be invasive, time-consuming, and costly.
• Difficulty in Detecting Carrier Status: Traditional newborn screening methods generally focus on detecting symptomatic diseases in newborns. They do not identify carrier status for recessive genetic disorders, which could be important for family planning or early intervention.
• Lack of Ability to Detect Variants of Uncertain Significance (VUS): Traditional methods do not provide information on variants of uncertain significance (VUS) that might require further investigation to determine whether they are pathogenic.

Geographical and Infrastructure Limitations

Traditional newborn screening methods often require specialized laboratory infrastructure and may not be accessible in low-resource or remote areas, limiting the scope of screening.

Also Read :- Revolutionizing Fertility Care: SpOvum® Technologies’ Vision for Advancing ART in India and Beyond

Advantages of NGS in Newborn Screening

Though NGS for Newborn screening has its own challenges and limitations, the benefits outweigh the limitations. Newborn Screening through NGS offers some critical insights, as below, that will lead to the management of the disorders more effectively.

• Comprehensive Testing: NGS can analyze multiple genes simultaneously, allowing for the detection of a broad spectrum of genetic disorders in a single test, unlike traditional methods that focus on a limited number of conditions.
• Early Detection: By identifying genetic disorders at birth, NGS enables early intervention, which can improve long-term health outcomes by initiating treatment or management strategies before symptoms appear.
• Higher Sensitivity and Accuracy: NGS offers a higher sensitivity compared to traditional screening methods, reducing the risk of false negatives or missed diagnoses.
• Personalized Medicine: Identifying genetic variants early allows for tailored treatment plans based on an infant’s specific genetic makeup, improving overall care and prognosis.
• Cost-Effective in the Long Term: Although NGS may have higher initial costs, its ability to detect multiple conditions in a single test can reduce the need for multiple separate screenings and follow-up tests, lowering overall healthcare costs. Early diagnosis also minimizes the expenses related to delayed treatment or complications of undiagnosed conditions.
• Better Prognosis for Rare Diseases: NGS can identify rare or undiagnosed genetic disorders that might not be picked up by traditional Newborn screening methods, leading to more effective treatments and improved survival rates for affected infants.
• Cost-Effectiveness:  For genomic-based Newborn screening to be effective and widely adopted, it must address challenges such as implementation costs, public acceptance, and scalability. While NGS involves higher upfront costs compared to traditional methods, it is becoming more cost-effective as technology advances and sequencing costs continue to decline. 

The ability to screen for multiple conditions at once reduces the need for multiple tests, follow-ups, and repeat procedures, ultimately lowering overall healthcare expenditures.

Summary

While traditional Newborn screening methods are effective for detecting a specific set of disorders, they are limited by the number of conditions they can test for, their reliance on biochemical markers, and their inability to provide a comprehensive genetic analysis. NGS overcomes these challenges by offering a broad, accurate, and non-invasive approach that can detect a wide range of genetic mutations, including those for rare and emerging diseases, carrier status, and variants of uncertain significance. 

As NGS technology becomes more accessible and cost-effective, it has the potential to revolutionize Newborn screening, providing earlier, more accurate, and more personalized healthcare for newborns. NGS can detect genetic variants of uncertain significance, enabling future re-analysis as more data becomes available. 

Moreover, advances in portable NGS technology could improve accessibility in underserved or remote areas, expanding the reach of newborn screening programs globally.

Like

Dislike

Be a part of Elets Collaborative Initiatives. Join Us for Upcoming Events and explore business opportunities. Like us on Facebook , connect with us on LinkedIn and follow us on Twitter , Instagram.