Global Non-Invasive Prenatal Testing and Newborn Screening Market, 2017-2027

LONDON, June 26, 2017 /PRNewswire/ -- INTRODUCTION
It has been estimated that close to 131 million babies are born each year across the globe. Of these, approximately 7.9 million are born with birth defects. In fact, more than 7,000 genetic disorders have been identified so far and the number is rising. Genetic testing solutions that enable early detection of genetic abnormalities in fetuses and newborns are important to ensure that the person does not face complications later in life. With the emergence of innovative diagnostic and screening techniques, several methods of genetic testing have become popular. These include carrier testing, preimplantation genetic diagnosis / screening (PGD / PGS), prenatal testing, paternity testing and newborn screening. Amongst these, prenatal testing (primarily Non-invasive prenatal testing (NIPT)) and newborn screening have gained relatively more traction in prenatal and neonatal care.


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Specifically, NIPT has emerged as an efficient screening method in prenatal care that can analyze the cell-free DNA (cfDNA) extracted from maternal blood sample during pregnancy. NIPTs offer several advantages over conventional prenatal testing procedures; in addition to being non-invasive, these tests offer shorter turnaround times and high accuracy. It has been reported that the increasing popularity of NIPTs has led to a 50% decline in the use of invasive prenatal testing procedures (such as amniocentesis and chorionic villus sampling (CVS)). With the changing mindset of people belonging to different cultural and socio-economic background, the uptake of NIPTs is likely to increase further. Moreover, with the rising awareness and availability of NIPTs designed for a wide array of disease indications, and development of innovative and versatile technologies, we expect that the interest will continue to grow.
Within neonatal care, the emergence of advanced technologies in this domain has reflected a gradual rise in the overall development of advanced newborn screening tests in the last few years. In fact, public service bodies in more than 70 countries across the globe have facilitated the establishment of newborn screening programs in their respective countries. With an already established platform, we expect the overall newborn screening market to continue its gradual rise driven by higher adoption, competitive prices and availability of these tests in various geographies across the globe.

SCOPE OF THE REPORT
The "Global Non-Invasive Prenatal Testing and Newborn Screening Market, 2017-2027" report features an extensive study on the current market landscape of non-invasive prenatal testing (NIPT) and newborn screening diagnostics that are commercially available or are under development. NIPT and newborn screening tests are designed for the detection of different types of genetic abnormalities in fetuses and newborns. Detection of genetic disorders in prenatal and neonatal stages is critical to lower the child mortality rates. Moreover, early detection, treatment and management of these genetic disorders is important to avoid serious health problems at later stages in life. The study offers a comprehensive discussion on the future potential of these tests in prenatal and neonatal care.

Ever since the launch and subsequent success of the first NIPT, the NIFTY® test (launched by BGI in August 2011), several firms have taken initiatives to develop and commercialize NIPTs. Currently, a number of NIPTs that are designed to screen for conditions such as chromosomal abnormalities, sex chromosomal abnormalities and microdeletion syndromes are available in the market. In addition, many companies have entered into collaborations to distribute these tests across various geographies in order to expand the availability to a wider population. Examples of popular NIPT tests include Harmony® test (Ariosa Diagnostics, acquired by Roche), PraenaTest® / PrenaTest® (LifeCodexx, a subsidiary of GATC Biotech), Panorama® (Natera®), NIFTY® (BGI), Verifi® (Verinata Health, acquired by Illumina®), VisibiliTTM (SequenomTM, acquired by LabCorp®) and IONA® test / Safe NIPT (Premaitha Health).

The advent of routine newborn screening in the 1960s for the detection of phenylketonuria (PKU) established the role and importance of newborn screening in mitigating disorders in newborns. The field is continuously evolving as the awareness related to benefits of newborn screening increases. Moreover, introduction of advanced technologies such as next-generation sequencing (NGS) and tandem mass spectroscopy has notably accelerated the development in this domain. Newborn screening diagnostics are primarily available for conditions such as metabolic disorders, endocrine disorders, hemoglobin disorders, congenital heart disorders and hearing disorders.

Both prenatal testing and newborn screening offer several benefits in terms of disease management in neonatal care and has gathered interest from a wide range of companies worldwide. In total, we have identified 76 NIPT tests and 38 advanced newborn screening tests. In addition, there are several companies that are engaged in the development of basic tests, devices, systems and technology platforms for both prenatal testing and newborn screening. One of the key objectives of this report was to understand the current activity and the future potential of the NIPT and newborn screening markets. Amongst other elements, the report covers the following:
NIPT:
- The overall landscape of NIPT tests with respect to the stage of development, sample type, technology platforms, type of indications, stage of pregnancy and result turnaround time. In addition, the report provides a detailed discussion and analysis on the various innovative technology platforms available for the development of NIPTs and the indications screened.
- Comprehensive profiles of the leading players in the field of NIPT and their products, highlighting details of the company, financial and funding information (if available), product portfolio and a comprehensive future outlook. Likewise, the product profiles provide information on the product and their development history, technology platforms, test procedure, specifications, advantages and clinical information (if available).
- An elaborate geographical coverage analysis of the NIPT tests available / under development across the globe, a comparative heat map analysis of NIPTs (on the basis of sensitivity, specificity, result turnaround time and stage of pregnancy when the test can be performed), harvey ball analysis highlighting the panel strength of each test based on the number of indications being screened, and the geographical distribution of the companies involved in the development of NIPTs.

Newborn Screening:
- The overall landscape of newborn screening tests with respect to the stage of development, screening type, technology platform, type of indication, period of sample collection after birth and result turnaround time.
- Detailed profiles of the players involved in the field of newborn screening and their products highlighting details on the company, financial and funding information (if available), product portfolio and a comprehensive future outlook. Likewise, the product profiles provide information on the product specifications and test methodology. In addition, the report includes a comprehensive list of the core and secondary disorders / deficiencies recommended for newborn screening.
- An illustrative grid representation of the newborn screening tests based on screening type (basic newborn screening, expanded newborn screening, comprehensive newborn screening and advanced newborn screening) and technology platform, and an overview of the landscape of industry developers (start-ups, mid-sized and large-sized players).

Additionally, the report includes:
- A detailed discussion of the existing regulatory landscape in the field of NIPT and the current status of the government mandated newborn screening programs established in various countries across the globe to provide proper medical care to newborns.
- Partnerships that have been recently been inked amongst different stakeholders, covering product distribution / marketing agreements, development / commercialization agreements and mergers / acquisitions.
- A detailed survey analysis primarily focused on gaining additional insights on the company's tests or services, highlighting the focus area of the company, type of the products, purpose and commercial availability of the lead product(s).

The study features a detailed analysis on the existing size and future growth opportunities (2017-2027) in the NIPT and newborn screening markets. We have provided insights on the likely regional evolution of the NIPT market across patients in three risk group segments (high risk, average risk and low risk) covering North America (the US, Canada and Mexico), Europe (France, Germany, Italy, Spain, the UK and rest of Europe) Asia (Japan, China and India) and rest of the world. In addition, we have provided the likely distribution by type of indications, stage of pregnancy when the test can be conducted and the share of individual NIPTs. The forecast takes into account the impending price variations that are likely to emerge in the mid-long term as a result of growing adoption and increased competition. In order to account for uncertainties associated with some of the key parameters and to add robustness to our model, we have presented three different forecast scenarios, depicting conservative, base and optimistic tracks of the market's evolution.

The research, analysis and insights presented in this report are backed by a deep understanding of key insights gathered from both secondary and primary research. Actual figures have been sourced and analyzed from publicly available data and primary research discussions. For the purpose of the study, we invited over 150 stakeholders to participate in a survey to solicit their opinions on upcoming opportunities, challenges and likely future trends. The opinions and insights presented in this study were also influenced by discussions conducted with experts in this field. These include contributions from Jim Patterson (Vice President, Sales and Marketing North America, EvolveGene®), Osama Fikry (Metabolic and Diagnostic Head, NewBridge Pharmaceuticals) and Silke Arndt (Medical Scientist and NGS Manager, Inqaba Biotec). All financial figures mentioned in this report are in USD, unless otherwise specified.

RESEARCH METHODOLOGY
The data presented in this report has been gathered via secondary and primary research. For all our projects, we conduct extensive secondary research as well as interviews with experts in the area (academia, industry, medical practice and other associations) to solicit their opinions on emerging trends in the market. This is primarily useful for us to draw out our own opinion on how the market may evolve across different regions and sub-segments. Wherever possible, the available data has been checked for accuracy from multiple sources of information.
The secondary sources of information include:
- Annual reports
- Investor presentations
- SEC filings
- Industry databases
- News releases from company websites
- Government policy documents
- Industry analysts' views

While the focus has been on forecasting the market over the coming ten years, the report also provides our independent view on various non-commercial trends emerging in the industry. This opinion is solely based on our knowledge, research and understanding of the relevant market gathered from various sources of information.

CHAPTER OUTLINES
Chapter 2 provides an executive summary of the insights captured in our research. It offers a high level view on the current state of the NIPT and the newborn screening market and its likely evolution over the next decade.

Chapter 3 provides a general introduction of various types of chromosomal abnormalities and genetic disorders occurring in fetuses and newborns with information on their statistics, and the different types of genetic tests available for their detection. It outlines the concept of invasive and non-invasive prenatal testing. In addition, the chapter offers a discussion on the historical evolution of newborn screening.

Chapter 4 provides a holistic view of the NIPT and newborn screening market. It provides a comprehensive list of NIPT and newborn screening tests. The chapter includes a detailed analysis of the NIPTs based on the development stage, technology platforms, type of indications tested, stage of pregnancy and result turnaround time. In addition, it includes a detailed analysis of the newborn screening tests based on the screening type, technology platform, type of indication, period of sample collection after birth and result turnaround time. The chapter also lists the basic prenatal testing and newborn screening tests, devices, systems and technology platforms.

Chapter 5 is a compilation of key insights gained from this study. It includes a geographical coverage analysis that highlights the availability of each NIPT test in different regions across the globe, and a heat map representing the relative clinical performance of the commercially available NIPTs on the basis of sensitivity, specificity, result turnaround time and the stage of pregnancy when the test can be performed. In addition, it presents a Harvey ball analysis depicting the test panel strength on the basis of number of indications screened, and a world map to represent the geographical presence and the activity of companies involved in the field of NIPT. The chapter also includes a grid representation of the newborn screening tests, highlighting the distribution of these tests on the basis of screening type (basic newborn screening, expanded newborn screening, comprehensive newborn screening and advanced newborn screening) and the technology platforms used to design them. Additionally, it features a developer landscape of the companies involved in the field of newborn screening, distributed on the basis of the company size and geographical presence.

Chapter 6 offers a comprehensive discussion on NIPT tests, highlighting advantages and challenges associated with the development and use of these tests. The chapter features detailed company profiles of the leading players that are involved in the development of NIPT tests. Each profile includes a brief overview of the company, its financial information, funding details, product portfolio and an informed future outlook. It also includes detailed profiles of the products of these key players. Each product profile provides information on the development history, specifications, technology platform, procedure, advantages and clinical information of different products offered by the company. In addition, the chapter includes a development timeline marking the launch of the popular NIPT tests between 2011 and 2016. It also provides a commercial landscape of the most popular NIPTs on the basis of different characteristics of these tests.

Chapter 7 offers a comprehensive discussion on newborn screening. It talks about different types of next-generation newborn screening procedures. We have provided company profiles and product profiles of the key players engaged in the development of newborn screening tests. In addition, it includes brief profiles of other players involved in this field. The section also includes an elaborate discussion on the current spread of newborn screening programs established in various countries across the globe to provide proper medical care to newborns.

Chapter 8 provides details on the other diagnostic tests / services available for genetic testing in newborns and fetuses; these include carrier testing / preconception care, preimplantation genetic testing (PGT) (preimplantation genetic diagnosis / screening (PGD / PGS)), genetic counselling and direct to consumer (DTC) genetic testing services. We have provided a brief overview of these tests / services, highlighting their general procedure / workflow, indications being evaluated and their indicative development pipeline.

Chapter 9 features an elaborate discussion on the collaborations and partnerships that have been inked amongst players in both NIPT and newborn screening markets. We have also discussed the various partnership models that have been implemented, highlighting the most common forms of deals / agreements in this domain.

Chapter 10 highlights the market forecast and sizing of the overall NIPT and newborn screening markets. This chapter discusses, in detail, the parameters that are likely to influence the evolution of these markets. It features detailed insights on the likely evolution of the NIPT market for different patient risk group segments (high risk, average risk and low risk). The chapter highlights the likely distribution of the market across North America (the US, Canada and Mexico), Europe (France, Germany, Italy, Spain, the UK and rest of Europe), Asia (Japan, China and India) and rest of the world. It also presents a detailed market segmentation by the key indications, stage of pregnancy when the tests can be performed and share of individual NIPT tests. In addition, the chapter offers a high-level view on the upcoming newborn screening market across the globe.

Chapter 11 summarizes the overall report and provides a recap of the key takeaways from the study. It also presents our independent opinion on the future of both NIPT and newborn screening market based on the research and analysis described in the previous chapters.

Chapter 12 is a collection of interview transcripts of the discussions held with key stakeholders in these fields. We have presented the insights provided to us by Jim Patterson (Vice President, Sales and Marketing North America, EvolveGene®), Osama Fikry (Metabolic and Diagnostic Head, NewBridge Pharmaceuticals) and Silke Arndt (Medical Scientist and NGS Manager, Inqaba Biotec).
Chapter 13 illustrates a detailed analysis on the survey conducted for gaining a deeper understanding on the nature of products and services offered by the companies involved in NIPT and / or newborn screening fields.

Chapter 14 is an appendix, which provides tabulated data and numbers for all the figures provided in the report.

Chapter 15 is an appendix, which provides the list of companies and organizations mentioned in the report.

EXAMPLE HIGHLIGHTS
1. During our research, we identified 76 NIPTs; of the commercially available tests, majority are laboratory-developed tests while only a few are CE-IVD certified. The CE-IVD marked tests include Clarigo® (Multiplicom), Harmony® test (Ariosa Diagnostics, acquired by Roche), IONA® test (Premaitha Health), Prenatal BACs-on-BeadsTM (PerkinElmer®), PraenaTest® / PrenaTest® (LifeCodexx, a subsidiary of GATC Biotech), Prendia (Genesupport, FASTERIS, Swiss Institute for Bioinformatics), SerenityTM test (Genesis GeneticsTM) and Tranquility (Genoma, a subsidiary of ESPERITE).
2. Of the total NIPTs (commercially available / under development), 83% are designed on the basis of massively parallel sequencing / next-generation sequencing methods (MPS / NGS) for the detection of diseases under their test panels. It is worth highlighting that some developers are utilizing a novel epigenetics based approach for the development of their NIPTs.
3. The current market landscape features contributions from big pharmaceutical companies and small to mid-sized players. Established players engaged in the development of NIPTs include (in alphabetical order) BGI, Natera®, PerkinElmer®, SequenomTM (acquired by LabCorp®), Sonic Healthcare and Quest DiagnosticsTM. Small and mid-sized companies engaged in the field of NIPT include (in alphabetical order) Ariosa Diagnostics (acquired by Roche), Berry Genomics, EvolveGene, LifeCodexx (a subsidiary of GATC Biotech), NIPD Genetics, NxGen MDx, Premaitha Health and Verinata Health (acquired by Illumina®).
4. Prominent academic institutions and universities involved in the field of NIPT include (in alphabetical order) the Birmingham Women's Hospital, Cyprus Institute of Neurology and Genetics, Murdoch Children's Research Institute, National University of Singapore, Stanford University, Swiss Institute for Bioinformatics, The Chinese University of Hong Kong and University of Antwerp.
5. We also came across 38 advanced newborn screening tests available for the detection of a large number of disorders / deficiencies including metabolic disorders, endocrine disorders, hemoglobin disorders, congenital heart disorders and hearing disorders. Of the total advanced newborn screening tests, 66% of the tests use blood as the testing sample (categorized as basic screening tests). This is followed by advanced screening tests and comprehensive screening tests capturing a share of 16% and 10%, respectively. Nearly 8% of the newborn screening tests utilize urine as the sample and are categorized as expanded newborn screening tests.
6. Over 135 collaborations have been inked in the field of NIPT between 2011 and 2017. Although a significant proportion of these agreements focus on distribution / marketing of NIPTs to expand their access and coverage in different geographies (54%), we came across a number of product development / commercialization agreements (15%), merger / acquisition agreements (9%) and product / technology licensing agreements (8%). Several companies have entered into multiple collaborations; these include SequenomTM (24 agreements), Natera® (20 agreements), Premaitha Health (19 agreements), BGI (18 agreements), Ariosa Diagnostics (14 agreements) and Illumina® (13 agreements).
7. The NIPT market, primarily driven by increasing awareness and adoption of NIPTs, is anticipated to grow at an annualized rate of 15% between 2017 and 2027. The current market is dominated by the tests offered to expectant women belonging to high risk category, capturing 52% market share. However, by 2027, the average risk market is likely to be amongst the key drivers; we expect its share to grow from 37% in 2017 to 45% by 2027.
8. Amongst specific indications screened under NIPT test panels, chromosomal abnormalities (primarily including trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome)) are likely to capture the largest share of the market in both 2017 (44%) and 2027 (56%). This is followed by sex chromosomal abnormalities, capturing a share of 24% in 2017 and 28% in 2027. These include Turner syndrome, Klinefelter syndrome, Triple X syndrome and Jacob syndrome. Microdeletion syndromes, primarily including Cri-du-chat syndrome, DiGeorge syndrome, Prader-Willi syndrome, monosomy 1p36 and Wolf-Hirschhorn syndrome, are likely to account for a share of 22% in 2017 and 14% in 2027.
9. With regard to the geographical activity, in 2017, the North America is likely to capture the maximum share (37%) followed by Europe (35%) and Asia (24%). Over the coming decade, Asian regions are likely to drive the growth resulting in a share of 29% in 2027. It is important to highlight that, within Asia, countries such as China, India, Japan, have several developers and distributors of NIPT tests, demonstrating an increasing interest in these regions.
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