Newborn Metabolic Screening Market

Global Market Study on Newborn Metabolic Screening: Increasing Government Mandates for Screening to Significantly Push Demand

Newborn Metabolic Screening Market Segmented By Galactosemia, Sickle Cell Disease, Cystic Fibrosis, Toxoplasmosis, Phenylketonuria (PKU), Methylmalonic Acidemia, Maple Syrup Urine Disease (MSUD), Tyrosinemia, Citrullinemia Test with Blood and Urine Sample

  • March-2021
  • PMRREP31998
  • 288 Pages
  • Healthcare

About the Report

Newborn metabolic screening includes testing, diagnosis, treatment follow-up, education, evaluation, and management. There are benefits associated with the early detection of metabolic disorders in newborn, which potentially reduce morbidity and mortality rates. Hence, screening of newborns for metabolic disorders soon after birth has been implemented as a global practice. Moreover, rising birth rates is a key market driver.

Governments provide funding for newborn screening due to rising incidence of metabolic disorders. Key manufacturer such as PerkinElmer, Inc., Bio-Rad Laboratories, and Luminex Corporation have collaborated with the health ministry to conduct pilot newborn screening programs.

In its new study, Persistence Market Research offers insights about key factors driving demand for newborn metabolic screening. The study points toward sickle cell disease as being the most sought-after test. Hospitals hold close to half the market share, globally.

The report tracks global sales of newborn metabolic screening in 20+ high-growth markets, along with analyzing the impact COVID-19 has on the life science industry in general, and on newborn metabolic screening in particular.

Find Out More about the Report Coverage


  • PerkinElmer
  • Bio-Rad Laboratories
  • Trivitron Healthcare Private Limited
  • BioMedomics, Inc.
  • Luminex Corporation
  • Synergy Medical Systems LLP
  • Agilent Technologies, Inc
  • Thermo Fisher Scientific, Inc
  • Zivak Technologies

Future Outlook Much Brighter than Previous Years

In the past few years, newborn metabolic screening has been one of the major child health advances. Rapid and advanced technology has been made possible to detect multiple compounds of different inborn metabolic diseases in neonatal dried blood specimens.

The newborn metabolic screening market is growing due to rising prevalence of metabolic diseases in neonates. According to the U.S. Centers for Disease Control and Prevention, during 2015–2017, overall prevalence of sickle cell disease was (4.9 per 10,000) live births. And for cystic fibrosis (CF) (1.8 per 10,000).

Development of lab-based integrated novel diagnostics not only reduces time to diagnose metabolic diseases but also significantly impacts patient survival rates. Companies are aiming to foray into this area in order to develop high medical value tests for more personalized medicine, which could prove significantly beneficial.

Repeatedly, it has been noted that, timely diagnosis of metabolic diseases in newborn remains of paramount importance for clinicians and their patients. Presence of benign lesions leads to misdiagnosis or delay in diagnosis of metabolic diseases, which creates the ultimate need for laboratory-based integrated tests.

This will create opportunities for the expansion of the newborn metabolic screening players over the forecast period, and the market is projected to expand at a CAGR of over 9% through 2030.

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How are Collaborations between Regional Health Ministries and Manufacturers Benefitting Product Demand?

Collaborations between manufacturers and regional health ministries will help key players expand their product portfolios at regional levels. This trend is being observed across the globe, and more actively in North American, European, and Asian countries.

  • On January 26, 2021, PerkinElmer announced that it has joined the European Alliance for newborn screening in spinal muscular atrophy, also known as the SMA NBS Alliance.
  • From January 2020, PerkinElmer provided newborn screening assays for PPMD’s New York State pilot program.
  • Since 2016, PerkinElmer is committed to moving newborn screening forward in India.

To remain competitive and ensure a robust product pipeline, leading companies continue to identify potential assets through pilot screening programs, which typically have limited resources to see projects through the market.


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How Does Mandatory Metabolic Screening Testing Boost Market Growth?

Newborn screening for particular indications is mandatory in America, Europe, and Asia Pacific. In order to assess active newborn metabolic screening programs, governments mandate some metabolic tests.

  • For instance, the cystic fibrosis screening test is mandated in the U.S., Canada, Brazil, Argentina, Germany, the U.K., France, Italy, Australia, and New Zealand. Sickle cell disease screening test is mandated in the U.K., France, Italy, and Spain. Toxoplasmosis is mandated in the U.S. Moreover, phenylketonuria (PKU) is mandates in the U.S., Japan, South Korea, China, Thailand, Australia, and New Zealand.

In Europe, healthcare funding is organized within statutory health insurance and the National Health Service. Hence, parents need not pay for newborn screening services. This benefits both, the infant’s quality of life and revenue expansion of diagnostic providers.

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Why are Ethical Issues Limiting Market Growth?

Although there are medical benefits associated with the early detection of metabolic disorders, some parts of the population have refused compulsory newborn screening programs, challenging the ethical propriety of a seemingly straightforward practice.

  • For instance, a couple challenged the "mandatory" screening of their child for PKU in the Supreme Court of Ireland on religious grounds. The parents claimed that the child could not be subjected to a heel stick procedure, although they did not object to the analysis of the newborn's urine. In this case, the court held that the authority of the parent overrides the authority of healthcare officials.

This case raises a series of legal questions associated with newborn screening, as well as some ethical issues. The Ireland Government’s guidelines for the welfare of children is examined through three parameters: the right of parents to decide the extent of medical interventions on behalf of their child, religious justification for refusing healthcare, and the claims of science and medicine. Such ethical considerations will hinder growth of newborn metabolic screening to some extent.

Why is Newborn Metabolic Screening Surging across Regions?

Increasing birth rates across the world are expected to drive demand for newborn metabolic screening, as the risk of galactosemia, sickle cell disease, phenylketonuria, maple syrup urine disease, and cystic fibrosis is higher among infants.

There is constant rise in the incidence of newborn metabolic diseases, globally. But these diseases remain undiagnosed in infants and cause life-threatening harm to them. Thus, government and private organizations are trying to popularize newborn metabolic screening programs to address such issues.

However, rising awareness has increased the adoption of newborn metabolic screening tests. Detection of newborn metabolic disease in a single cassette has reduced the multiple testing burden on patients, as such, allowing an easy way of diagnosing diseases amongst newborns.

Rising adoption of combination testing approaches for newborns by using a single rapid test is expected to surge the popularity of newborn metabolic screening.

Country-wise Insights

Why Does the U.S Hold More Than 25% Share in the Global Market?

The U.S has a well-established newborn metabolic screening program. The U.S Government mandates metabolic tests for cystic fibrosis, toxoplasmosis, and phenylketonuria (PKU). According to CDC, every year in the U.S., millions of babies are routinely screened by using heel prick blood samples for certain metabolic disorders. Also, the U.S. population has high awareness regarding newborn metabolic screening tests. The newborn metabolic screening market in the U.S. is expected to progress at a healthy CAGR of around 19% through 2030.

Why is Demand for Newborn Metabolic Screening Surging in China?

China is expected to experience significant growth at the rate of 9% over the next ten years. The country started its newborn screening program in 1981, with the government paying more attention to the cause. In 2009, the government issued regulations for neonatal genetic metabolic diseases.

Currently, the screening program penetration rate in China is as high as 97%. China’s  program includes sample collection, laboratory testing, clinical diagnosis, result reporting, follow-up, and delivery. Some tests are included into local salvation fund projects and medical insurance, all of which have significantly boosted the development of the market in China. China contributes more than 60% revenue share in the East Asia newborn metabolic screening market.

What are the Barriers to Implement Sustainable National Newborn Screening in India?

Implementing a public program requires funding and favorable policies. Newborn metabolic screening implementation totally depends on infrastructure, which model is used, training, sample collection, and bureaucracy that needs to be overcome. This screening is different from routine laboratory testing, and requires different infrastructure. Besides, programs should be held accountable for their actions, especially timeliness, accuracy, and errors.

Lack of public health screening services in countries such as India is one of the main challenges for implementing sustainable national newborn screening. Moreover, lack of awareness regarding screening programs and metabolic diseases amongst parents is not allowing the market to reach its full potential. Screening programs need continuous follow-ups with the affected children. Due to lack of knowledge, parents discontinue therapy without the consent of treating physicians. This defeats the purpose of the screening program itself.

Why is demand for Newborn Metabolic Screening Rising in the U.K?

The U.K. will continue leading the market in Europe, and is expected to experience significant growth around 12% over the next ten years. Some leading manufacturers such as PerkinElmer, Inc., Thermo Fisher Scientific Inc., and Luminex Corporation and Company are present in the country, which creates significant revenue for the region. Moreover, well-established and mandatory screening programs also generate significant revenue for manufacturers. Adoption of newborn metabolic screening by parents is higher in the U.K. as compared to other neighboring countries in the region.

Category Insights

Why are Blood Sample Tests the Most Popular?

Blood sample analysis reduce the risk of false positive results to some extent. Moreover, adoption of dried blood spot cards by screening programs is more accurate than urine sampling. Frequency of false positive results is high in urine analysis for newborn metabolic screening.

False positives cause parental anxiety and lead to unnecessary costs. In some cases, false positives could lead to irrelevant treatments that might be harmful for the child. Hence, doctors prefer blood samples due to higher accuracy achieved in test results.

Competitive Landscape

The global newborn metabolic screening market is dominated by top manufacturers - PerkinElmer, Inc., Bio-Rad Laboratories, Luminex Corporation, MP BIOMEDICALS, and Agilent Technologies, Inc. Major market players are focusing on the development of a wide range of screening tests. Moreover, key players are focusing on enhancing their global and regional presence through acquisitions and collaborations.

Some of the leading companies operating in the market are:

  • Thermo Fisher Scientific Inc.
  • Merck KGaA
  • Becton, Dickinson and Company
  • "Lonza
  • Corning Incorporated
  • Synthecon, Inc
  • 3D Biotek LLC
  • Nanofiber Solutions, Inc.
  • Greiner Group AG
  • Lena Biosciences
  • MicroTissues, Inc.

*The list is not exhaustive, and only for representational purposes. Full competitive intelligence available in the report.

Scope of Report



Forecast Period


Historical Data Available for


Market Analysis

USD Million for Value and Units for Volume

Key Regions Covered

  • North America
  • Latin America
  • Europe
  • East Asia
  • South Asia
  • Oceania
  • Middle East & Africa

Key Countries Covered

  • US
  • Canada
  • Brazil
  • Mexico
  • Argentina
  • Germany
  • U.K.
  • France
  • Italy
  • Spain
  • Russia
  • China
  • Japan
  • South Korea
  • India
  • Thailand
  • Indonesia
  • Malaysia
  • Australia
  • New Zealand
  • UAE
  • Saudi Arabia
  • South Africa
  • Turkey

Key Segments Covered

  • Test
  • Sample
  • End User
  • Region

Key Companies Profiled

  • PerkinElmer, Inc.
  • Bio-Rad Laboratories
  • Trivitron Healthcare Private Limited
  • BioMedomics, Inc.
  • Luminex Corporation
  • Synergy Medical Systems LLP
  • Agilent Technologies, Inc
  • Thermo Fisher Scientific, Inc
  • Zivak Technologies.


Report Coverage

  • Market Forecast
  • Company Share Analysis
  • Competition Intelligence
  • DROT Analysis
  • Market Dynamics and Challenges
  • Strategic Growth Initiatives

Customization & Pricing

Available upon Request

Market by Category


  • Galactosemia
  • Sickle Cell Disease
  • Cystic Fibrosis
  • Toxoplasmosis
  • Phenylketonuria (PKU)
  • Methylmalonic Acidemia
  • Maple Syrup Urine Disease (MSUD)
  • Tyrosinemia
  • Citrullinemia
  • Medium Chain Acyl CoA Dehydrogenase (MCAD) Deficiency


  • Blood
  • Urine

End User

  • Diagnostic Laboratories
  • Specialty Clinics
  • Hospitals


  • North America
  • Latin America
  • Europe
  • East Asia
  • South Asia
  • Oceania
  • MEA

Key Questions Answered in Report

  • Which is the most lucrative market for newborn metabolic screening?

    The U.S. currently leads the global market for newborn metabolic screening, and demand will be significant throughout the forecast period.

  • Which test holds significant share in the market?

    Demand for sickle cell disease is expected to remain high in the near future, especially due to higher prevalence rate globally.

  • What is the impact of mandatory newborn metabolic screening programs on the market?

    Mandatory newborn metabolic screening programs increase the adoption of such tests by the population.

  • Why are integrated laboratory-based tests boosting market growth?

    Development of lab-based integrated novel diagnostics not only reduce time to diagnose metabolic diseases, but also significantly impact patient survival rates.

  • Which are the challenges associated with newborn metabolic screening?

    A challenge associated with newborn metabolic screening can be barriers to implement sustainable national newborn screening programs in developing regions.

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Media Release


Neonatal Infant Care Market

Global neonatal infant care equipment market was valued at US$ 1.9 Bn in 2019, and is predicted to witness an impressive CAGR of 6.5% over the forecast period (2020–2030)..

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