Global Carrier Screening Market Research Report: Forecast (2024-2030)

Market Definition

The field of carrier screening offers genetic testing services aimed at identifying individuals harboring gene mutations linked with inherited disorders. These tests are commonly extended to couples intending to conceive or those already expecting, aiming to evaluate the likelihood of transmitting genetic disorders to their children. This sector prioritizes furnishing precise and thorough information to empower individuals to make well-informed choices concerning their reproductive well-being.

Market Insights & Analysis: Global Carrier Screening Market (2024-30):

The Global Carrier Screening Market size was valued at around USD 2.09 billion in 2023 & is estimated to grow at a CAGR of around 20.7% during the forecast period, i.e., 2024–30. The growth of this market primarily stems from the advancement and accessibility of expanded carrier screening panels, which encompass a broad spectrum of genetic conditions, driving market expansion. Comprehensive panels deliver more comprehensive evaluations, prompting healthcare providers to embrace them for furnishing patients with extensive genetic insights.

Furthermore, the National Institutes of Health (NIH) estimates that approximately 300 million individuals globally are suffering from rare disorders, categorized under conditions affecting fewer than 250,000 people. NIH’s report states that about 85% of these rare disorders generally arise from genetic origins, and an alarming 95% lack any FDA-approved treatments. The availability and affordability of genetic testing, which encompasses carrier screening, play pivotal roles in determining the extent of adoption among individuals, couples, and healthcare providers.

Additionally, according to a recent scientific publication in the European Journal of Human Genetics, it has been substantiated that the global population living with a rare disease is estimated to be around 300 million individuals. Nevertheless, even with efforts to raise awareness, numerous individuals and healthcare practitioners might still possess limited understanding regarding the accessibility and significance of carrier screening. This lack of awareness could result in the underutilization of carrier screening services, possibly impeding the market's growth & expansion in the coming years. However, consolidated efforts from all interested stakeholders can help overcome such issues and further augment the growth of the industry.

Global Carrier Screening Market Driver:

Rising Prevalence of Genetic Disorders – The increasing occurrence and understanding of genetic disorders are major factors driving the growth & expansion of carrier screening services. Carrier screening is a crucial methodology for pinpointing individuals who possess one copy of a gene mutation linked to a particular genetic ailment. Approximately 10,000 distinct types of single-gene diseases, also known as monogenic diseases, exist, wherein mutations in a single gene cause the ailment. According to the World Health Organization Report, it has been estimated that 9 out of every 999 individuals are adversely impacted by these conditions. This suggests that about 85 million people are grappling with one of these diseases worldwide.

Furthermore, the escalating incidence of hereditary cancer stands as a significant catalyst for market growth. Carrier screening, especially concerning genes linked to cancer susceptibility, holds vital importance in identifying individuals carrying genetic mutations associated with heightened risks of specific cancer types. For example, according to the NIH, as much as 10% of all cancers might stem from inherited genetic alterations. Thus, the increasing prevalence of genetic disorders emphasizes the critical role of carrier screening as both a preventive measure and a means for informed decision-making in family planning. As awareness expands, the market is poised to assume an increasingly pivotal role in the management and prevention of genetic diseases.

Global Carrier Screening Market Opportunity:

Integration of Telehealth & Digital Health Platforms to Offer Space for Further Growth & Expansion – The integration of telehealth and digital health platforms presents substantial prospects for the market. Utilizing digital technologies enhances accessibility, streamlines genetic testing services, and fosters a patient-centric approach. Telehealth platforms empower people, particularly those in remote or underserved regions, to avail of carrier screening services without the necessity of visiting a physical healthcare facility. The heightened accessibility plays a pivotal role in catering to a wider demographic. Likewise, telehealth platforms facilitate the delivery of preconception and prenatal care, encompassing consultations for carrier screening. This aids individuals and couples in navigating family planning choices and addressing genetic concerns during pregnancy. For instance,

• In 2022, Ambry Genetics, a clinical diagnostic testing company and a subsidiary of REALM IDx, introduced a novel reproductive health initiative driven by its CARE ProgramTM (Comprehensive Assessment Risk and Education). This digital platform aims to improve both patient and provider experiences by facilitating easier access to genetic education, testing, reporting, and counseling in the realm of reproductive health.

This comprehensive program enhances family planning and prenatal care by broadening access to carrier screening and non-invasive prenatal testing (NIPT), aiding patients in making well-informed decisions. It's important to note that NIPT is primarily used for screening purposes, not for diagnosis. Moreover, digital health platforms provide continuous post-carrier screening follow-up care. This entails virtual appointments, surveillance of genetic risks, and crafting tailored care strategies grounded in screening outcomes.

Global Carrier Screening Market Challenge:

High Cost of Carrier Screening to Impede Market Growth – The considerable expense associated with carrier screening poses a notable barrier to the growth & expansion of the industry. The steep costs involved may restrict the accessibility of carrier screening services for those with constrained financial resources. Consequently, this can lead to disparities in healthcare, wherein only those with the financial capacity to undergo testing can reap its benefits, thus perpetuating inequalities in access. Likewise, the considerable expense associated with carrier screening might result in diminished acceptance rates, as people and couples might be discouraged by the financial strain of undergoing the procedure. This could influence the general utilization of carrier screening services. For instance,

• The Centers for Medicare & Medicaid Services determine payment levels and coverage guidelines for Medicare, while state Medicaid programs and commercial health plans set their rates and rules per relevant regulations. Consequently, reimbursement rates for our diagnostic tests differ depending on the third-party payer. CMS has set a pricing benchmark of $2,450 for expanded carrier screening testing. Likewise, according to a publication in Obstetrics & Gynecology in 2023, the cost of 22 panels ranged from USD 349 to USD 4,320 per couple in US dollars.

Consequently, the elevated expenses could impact how consumers perceive and embrace carrier screening. People and couples might scrutinize the worth of the tests in light of the financial commitment involved, posing a potential challenge to the expansion of the market in the coming years.

Global Carrier Screening Market Trend:

Next-Generation Sequencing (NGS) & Multiplex PCR Technologies Gaining Traction – Progress in genetic testing technologies, particularly through the evolution of Next-Generation Sequencing (NGS) and Multiplex PCR technologies, is bolstering the precision, effectiveness, and affordability of carrier screening examinations. These technological strides are fueling market expansion by broadening access to carrier screening, notably enhancing its quality and availability. NGS facilitates swift and thorough analysis of numerous genes concurrently, offering more precise outcomes than conventional sequencing techniques. Similarly, Multiplex PCR enables the simultaneous amplification of multiple DNA sequences, improving efficiency and minimizing testing duration.

These advancements have not only reduced the cost of testing but also benefited more populations from early detection of genetic conditions and making informed decisions about family planning and healthcare. Thus, it can be stated that the integration of next-generation sequencing and multiplex PCR technologies into carrier screening is revolutionizing the Global Carrier Screening Market. This has resulted in improved healthcare outcomes for individuals and families, as well as contributing to the broader understanding and management of genetic diseases in the population.

Global Carrier Screening Market (2024-30): Segmentation Analysis

The Global Carrier Screening Market study of MarkNtel Advisors evaluates & highlights the major trends and influencing factors in each segment. It includes predictions for the period 2024–2030 at the global level. According to the analysis, the market has been further classified as:

Based on Type:

• Expanded Carrier Screening
  • Customized Panel Testing
  • Predesigned Panel Testing
• Targeted Disease Carrier Screening

The targeted disease carrier screening segment is set to hold a major share of the market throughout the forecast period in the carrier screening industry. This expansion is mainly credited to its wide-ranging applications, which encompass identifying genetic conditions prevalent in particular ethnic or racial populations. Additionally, in areas where marriages between close relatives are common, targeted carrier screening serves as a vital tool in recognizing genetic risks linked with such unions.

Based on Medical Condition:

• Hematologic Conditions
• Pulmonary Conditions
• Neurological Conditions
• Others

Among all, the hematologic conditions segment holds a major share of the market and is projected to experience substantial market expansion during the forecast period as well. This growth is attributed to the escalating prevalence of thalassemia worldwide, a genetic disorder impacting the production of hemoglobin and resulting in anemia. Carrier screening plays a crucial role in detecting individuals harboring mutations linked to thalassemia, particularly within populations exhibiting a heightened prevalence of these mutations. Moreover, the incidence of particular hematologic disorders within a population could significantly contribute to the demand for carrier screening targeting these conditions.

Global Carrier Screening Market (2024-30): Regional Projections

Geographically, the Global Carrier Screening Market expands across:

• North America
• South America
• Europe
• The Middle East and Africa
• Asia-Pacific

During the forecast period, North America is expected to dominate the Global Carrier Screening Market in terms of market size & volume. The growth witnessed in the region is highly propelled by the advanced and well-established infrastructure of the healthcare industry. The existence of advanced laboratories, research facilities, and healthcare institutions creates an ideal setting for embracing cutting-edge diagnostic technologies such as carrier screening. Moreover, this region hosts several globally renowned research institutions and academic hubs. These establishments frequently spearhead genetic research endeavors, particularly in rare diseases, thereby fueling the need for carrier screening services.

Global Carrier Screening Industry Recent Development:

• 2022: OPKO Health Inc. completed the acquisition of ModeX Therapeutics, intending to utilize proprietary immunotherapy technology for the treatment of cancerous and infectious diseases under the Oncology department.

Gain a Competitive Edge with Our Global Carrier Screening Market Report

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