The global market for newborn screening is projected to grow significantly, reaching approximately US$ 2,484.16 million by 2030, up from US$ 1,206.74 million in 2022. This growth represents a compound annual growth rate (CAGR) of 9.4% from 2022 to 2030.
Several factors are propelling this market forward, including the increasing incidence of congenital disorders and a rise in the number of newborn health issues. However, challenges such as the inconsistency in newborn screening policies and procedures globally, along with the occurrence of false positive and false negative results, pose significant barriers to market expansion.
Opportunities in the Newborn Screening Market
There is a growing demand for extensive genetic screening of newborns, driven by enhanced understanding of the genetic underpinnings of various medical conditions and advancements in healthcare technologies. Consequently, companies within the newborn screening sector are innovating and creating cost-effective screening solutions. For instance, the US FDA approved Kymriah gene therapy in 2017 for pediatric patients suffering from a specific type of acute lymphoblastic leukemia. This therapy involves inserting a new gene that encodes a chimeric antigen receptor into the patient's T cells, prompting these modified T cells to target and eliminate leukemic cells. Other examples of approved gene therapies include Yescarta and Zynteglo, which are used for large B-cell lymphoma and beta-thalassemia, respectively. Furthermore, the advent of technologies that can identify genetic predispositions to diseases at birth aligns with the growing trend towards personalized healthcare and precision medicine.
Additionally, prenatal screening for genetic disorders aims to detect potential pregnancy-related complications early. Next-generation sequencing has proven to be highly sensitive, exceeding 95% in identifying aneuploidies (like Down syndrome and Trisomy 21) and partial chromosomal abnormalities across all chromosomes. Techniques such as fluorescence in situ hybridization (FISH) are utilized to identify monogenic disorders, including sickle cell anemia, and are instrumental in effective preimplantation genetic diagnosis. Recent advancements in noninvasive testing methods, such as the cell-free fetal DNA approach using maternal plasma, allow for the differentiation of embryonic DNA from maternal DNA based on size variations. Techniques like real-time PCR with fluorescent probes, shotgun sequencing (Solexa or Illumina), and extensive targeted parallel sequencing can analyze DNA linked to fetal health conditions. This progress enables healthcare providers to offer early molecular interventions through specific pharmacological treatments (pharmacogenetics) and to physically and chemically modify cells, tissues, and organs if further research into genetic screening continues. Thus, innovations in screening methods for genetic disorders in infants present substantial opportunities for the newborn screening market.
Challenges Facing the Newborn Screening Market
Disparities in the conditions screened across various countries lead to a lack of uniformity in newborn screening policies and practices globally. Some nations implement comprehensive screening for a wide array of disorders, while others limit their focus to a select few. This inconsistency creates challenges for companies developing screening tests and technologies, as they must tailor their products to meet specific market needs, which restricts economies of scale. Furthermore, the absence of standardized protocols can result in variable quality control and data collection practices, leading to inaccuracies in screening outcomes and complicating data comparisons across regions. This inconsistency makes it difficult for researchers and healthcare providers to evaluate the effectiveness of local screening programs. Additionally, the lack of universal standards complicates the regulatory environment for companies in the newborn screening market, as they must navigate a complex array of regulations to obtain approvals in different countries, which can be both time-consuming and costly. The absence of uniformity also hampers international collaboration and data sharing, limiting the potential for advancements in newborn screening research and technology development. Therefore, the lack of consistency in newborn screening policies and procedures significantly restricts the growth of the newborn screening market.
Segmental Overview of the Newborn Screening Market
The newborn screening market is categorized by product type into reagents and assay kits, and instruments. In 2022, the reagents and assay kits segment dominated the market and is anticipated to experience the fastest growth in the upcoming years. These reagents and assay kits are classified into DNA-based assays, immunoassays, and enzymatic assays. Various companies have developed a range of reagents and assay kits tailored for neonatal screening. For example, Labsystems Diagnostics introduced a fluorometric microplate-based assay for detecting phenylketonuria (PKU) in newborns, which is crucial since elevated phenylalanine levels can lead to intellectual disabilities. All reagent kits provided by the company are available as either manual modular systems or fully automated hands-off systems.
In terms of technology, the newborn screening market is divided into tandem mass spectrometry (TMS), molecular assays, immunoassays and enzymatic assays, pulse oximetry screening technology, and other technologies. The pulse oximetry screening technology segment held the largest market share in 2022, with the immunoassays and enzymatic assays segment expected to grow the fastest in the coming years. Critical congenital heart disease (CCHD), a prevalent congenital disability, can be identified during both prenatal and postnatal periods, and if left undiagnosed and untreated during infancy, it can be life-threatening. Pulse oximetry screening is a noninvasive, painless, and cost-effective method for detecting critical CCHD in infants, measuring the percentage of oxygen-saturated hemoglobin in the blood.
The newborn screening market is also segmented by test type into dry blood spot tests, hearing screening tests, critical congenital heart disease tests, and other tests. The blood spot test segment was the largest in 2022 and is projected to grow significantly at a notable CAGR from 2022 to 2030.
By end-user, the newborn screening market is divided into hospitals, clinics, and diagnostic laboratories. In 2022, hospitals and clinics accounted for a larger market share, and this segment is expected to grow at a steady CAGR from 2022 to 2030. Newborn screening tests are typically conducted in designated areas within hospitals or nurseries. The hospitals and clinics segment is likely to maintain a significant share of the newborn screening market in the future, as these facilities attract a high volume of patients for newborn screenings due to their comprehensive services, treatment options, and quality nursing care.
Geographical Overview of the Newborn Screening Market
In North America, the newborn screening market has seen substantial growth in recent years. The demand for newborn screening services has surged, driven by increased awareness among parents and healthcare professionals regarding the importance of early detection and management of congenital disorders. Additionally, advancements in medical technology have played a vital role in enhancing newborn screening capabilities; laboratory automation has improved accuracy, speed, and cost-effectiveness of screenings. This progress enables healthcare providers to offer comprehensive newborn screening panels that encompass a broader range of genetic and metabolic disorders. Favorable legislation and regulatory frameworks also support the newborn screening market in North America. Many states have instituted mandatory newborn screening programs, ensuring that all infants undergo screening shortly after birth. For example, every state in the US has a public health program for newborn screening, screening approximately 4 million babies annually for conditions that may not be evident at birth. The Texas Department of Health and Human Services initiated screening for Spinal Muscular Atrophy (SMA) in newborns in June 2021.
A variety of primary and secondary sources were consulted in the preparation of the report on the newborn screening market, including data from the World Bank, the National Health Service (NHS), the FDA (Food and Drug Administration), the EMA (European Medicines Agency), and the WHO (World Health Organization).