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市場調查報告書

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1738773

全EXOME定序市場規模依產品、技術、應用、最終用戶、地區、範圍和預測分類：

Global Whole Exome Sequencing Market Size by Products, By Technology (Sequencing by Synthesis, ION Semiconductor Sequencing), By Application, By End-User, By Geographic Scope and Forecast

出版日期: 2025年05月05日 | 出版商:

Verified Market Research | 英文 202 Pages | 商品交期: 2-3個工作天內

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簡介目錄

全EXOME定序市場規模及預測

2024 年整個EXOME定序市場規模價值 172.7 億美元，預計到 2032 年將達到 625.1 億美元，2026 年至 2032 年的複合年成長率為 19.24%。

全外EXOME定序(WES) 是一種遺傳方法，專注於對基因的編碼部分（通常稱為外顯子）序列測定，以捕獲和分析編碼蛋白質的基因組區域，提供有關遺傳變異及其對健康和疾病的潛在影響的資訊。

WES 檢查基因的所有蛋白質轉錄區，以檢測與疾病相關的基因突變。 WES 用於診斷罕見的基因異常、了解癌症基因組並制定個人化治療方案，從而提供有關疾病病因和未來治療目標的資訊。

這項技術有望透過識別與疾病相關的基因突變、指導標靶治療和改善患者預後來改善個人化醫療。它將有助於診斷罕見遺傳疾病，推進藥物研發，改善基因研究，並最終推動精準醫療的發展。

全球全外EXOME定序市場動態

關鍵市場促進因素

遺傳性疾病盛行率不斷上升：根據美國國立衛生研究院 (NIH) 的報告，超過 2500 萬至 3000 萬美國患有罕見疾病，其中許多是遺傳性疾病。如此龐大的患者群體催生了全EXOME定序的需求。

定序成本不斷下降：根據美國國家人類基因組研究所 (NHGRI) 的數據，人類基因組定序成本已從 2001 年的約 1 億美元降至近年來的不到 1,000 美元。成本的大幅下降使得全EXOME序列測定更加經濟實惠。

不斷擴大的癌症診斷市場：美國國家癌症美國（NCI）預測，2020年美國將新增約180萬例癌症確診病例。全外EXOME定序正在迅速應用於癌症診斷和個人化治療計劃。

增加政府對基因組研究的資助：美國國立衛生研究院人類基因組研究所 2021 財政年度的預算約為 6.04 億美元，並支持一系列基因組研究舉措，包括使用全外EXOME定序的研究。

主要挑戰

定序價格上漲：根據美國國家人類基因組研究所 (NHGRI) 的數據，儘管定序成本已大幅下降，但 2021 年全EXOME定序每個樣本的成本仍為 500-1,500 美元。

報銷有限：根據《醫學遺傳學》雜誌發表的一項研究，2019 年只有 56% 的保險計劃因某些原因涵蓋全外EXOME定序。

數據解釋的挑戰：根據美國醫學遺傳學和基因組學學會 (ACMG) 的數據，透過全外EXOME定序發現的變異中約有 3-5% 被歸類為意義不確定的變異 (VUS)，這使得臨床解釋變得複雜。

道德與隱私問題：根據皮尤研究中心 2018 年的一項調查，48% 的美國人對自己的基因資訊隱私感到有些或非常擔憂。

主要趨勢

目前定序成本正在下降：全EXOME定序的成本正在大幅下降，從 2010 年的 1,000 美元下降到 2023 年的 300-400 美元。 13 年間 60-70% 的降幅反映了技術進步和規模經濟，使 WES 更易於研究和臨床應用，並且更便宜。

臨床應用日益增加：從 2016 年到 2022 年，全EXOME定序的臨床應用將增加 85%，到 2022 年，美國將進行約 250,000 次EXOME分析。這一成長表明 WES 在檢測遺傳疾病、推動個人化醫療以及改善臨床決策和患者結果方面的重要性日益增強。

It is expected to improve personalized medicine by discovering genetic variants associated with diseases, directing focused treatments and improving patient outcomes. It will help diagnose rare genetic illnesses, advance drug development and refine genetic research, ultimately propelling precision medicine forward.

Global Whole Exome Sequencing Market Dynamics

The key market dynamics that are shaping the global whole exome sequencing market include:

Key Market Drivers:

Increasing Prevalence of Genetic Disorders: The National Institutes of Health (NIH) reports that over 25-30 million Americans suffer from uncommon diseases, many of which are hereditary in nature. This big patient population creates a demand for whole exome sequencing.

Decreasing Sequencing Costs: The National Human Genome Research Institute (NHGRI) says that the cost of sequencing a human genome reduced from around $100 million in 2001 to less than $1,000 in recent years. This huge cost drop made entire exome sequencing more affordable.

Expanding Cancer Diagnostics Market: The National Cancer Institute (NCI) anticipates that there will be roughly 1.8 million new cancer cases identified in the United States in 2020. Whole exome sequencing is rapidly being employed in cancer diagnoses and individualized therapy planning.

Increasing Government Funding for Genomics Research: The NIH budget for the Human Genome Research Institute possesses approximately USD 604 Million in fiscal year 2021, supporting various genomics research initiatives including those utilizing whole exome sequencing.

Key Challenges:

High Sequencing Prices: According to a National Human Genome Research Institute (NHGRI) publication, while sequencing costs have reduced dramatically, full exome sequencing continues to cost between $500 and $1,500 per sample as of 2021.

Limited Reimbursement: According to a study published in the journal Genetics in Medicine, only 56% of insurance plans covered whole exome sequencing for certain reasons in 2019.

Data Interpretation Challenges: According to the American College of Medical Genetics and Genomics (ACMG), roughly 3-5% of variations discovered in whole exome sequencing are classed as variants of unknown significance (VUS), which complicates clinical interpretation.

Ethical and Privacy Concerns: According to a Pew Research Center survey from 2018, 48% of Americans were somewhat or very worried about the privacy of their genetic information.

Key Trends:

Current Decrease in Sequencing Costs: Whole exome sequencing costs have reduced dramatically, from $1,000 in 2010 to $300-$400 in 2023. This 60-70% decline over 13 years reflects technological advancements and economies of scale, making WES more accessible and cheaper for research and clinical applications.

Increase in Clinical Applications: From 2016 to 2022, clinical use of whole exome sequencing increasing by 85%, with around 250,000 exomes performed in the United States by 2022. This increase illustrates WES's rising relevance in detecting genetic illnesses, driving personalized medicine and enhancing clinical decision-making and patient outcomes.

Global Whole Exome Sequencing Market Regional Analysis

Here is a more detailed regional analysis of the global whole exome sequencing market:

North America:

According to Verified Market Research, North America is expected to dominate the global whole exome sequencing market.

The region is expected to lead the worldwide whole exome sequencing market due to its strong healthcare infrastructure, significant research funding and early adoption of cutting-edge technology. The region benefits from a significant concentration of leading biotech businesses and research institutions, which fuels genomics innovation and applications.

Furthermore, the large number of healthcare professionals and growing awareness of genetic illnesses contribute to the rising demand for whole exome sequencing. This dominance is bolstered by government initiatives and favorable legislation that encourage genomic research and customized treatment, ensuring that North America remains at the forefront of market growth and technological progress.

Asia Pacific:

According to Verified Market Research, Asia Pacific is fastest growing region in global whole exome sequencing market.

The Asia-Pacific area is the world's fastest expanding market for whole exome sequencing. This rapid expansion is being driven by increasing healthcare investments, expanded research infrastructure and rising disease prevalence.

Countries like China and India are at the forefront of this trend, which is being driven by advances in biotechnology, improved healthcare infrastructure and a rising emphasis on individualized medicine.

Rising awareness of genetic abnormalities, as well as supporting government regulations, are also helping to drive market growth. This dynamic climate is transforming Asia-Pacific into a major player in the global whole exome sequencing scene, attracting investment and driving genomic innovation.

Global Whole Exome Sequencing Market: Segmentation Analysis

The Global Whole Exome Sequencing Market is segmented based on Product, Technology, Application, End-User and Geography.

Global Whole Exome Sequencing Market, By Product

Kits
Sequencer
Services

Based on Product, the market is separated into Kits, Sequencer and Services. In the global whole exome sequencing market, services are currently dominant. They provide a wide range of services, including data analysis and interpretation and are increasingly important in research and therapeutic applications. Services meet a wide range of needs, making them an important sector of the market's growth.

Global Whole Exome Sequencing Market, By Technology

Sequencing by Synthesis (SBS)
ION Semiconductor Sequencing

Based on Technology, the market is separated into Sequencing by Synthesis (SBS) and ION Semiconductor Sequencing. Sequencing by Synthesis (SBS) have dominated the global whole exome sequencing market due to its high accuracy, dependability and widespread acceptance. It gives complete data at a high throughput and have surpassed ION Semiconductor Sequencing as the leading approach for extensive genetic analysis.

Global Whole Exome Sequencing Market, By Application

Diagnostics
Drug Discovery and Development
Agriculture and Animal Research

Based on Application, the market is divided into Diagnostics, Drug Discovery and Development and Agriculture and Animal Research. Diagnostics leads the global whole exome sequencing market due to its critical role in diagnosing genetic abnormalities and guiding individualized therapy. This area is driven by the need for accurate, efficient diagnostic tools, which use WES to improve patient care in clinical settings.

Global Whole Exome Sequencing Market, By End-User

Research Centers and Government Institutes
Hospitals and Diagnostics Centers
Pharmaceuticals & Biotechnology Companies

Based on End-User, the market is divided into Research Centers and Government Institutes, Hospitals and Diagnostics Centers and Pharmaceuticals & Biotechnology Companies. The global market for whole exome sequencing is dominated by research centres and government institutes. They generate high demand for exome sequencing due to their emphasis on genomics research, illness investigations and innovation. Their significant funding and commitment in pioneering research help to maintain their industry leadership.

Global Whole Exome Sequencing Market, By Geography

North America
Europe
Asia Pacific
Rest of the World

Based on the Geography, the market divided into North America, Europe, Asia Pacific and Rest of the World. North America leads the worldwide whole exome sequencing market due to its advanced healthcare infrastructure, substantial research funding and early adoption of cutting-edge technology. The United States leads in market share, due to a strong biotechnology sector and significant clinical usage of sequencing technologies.

Key Players

The Global Whole Exome Sequencing Market study report will provide valuable insight with an emphasis on the global market. The major players in the market are Danaher, Thermo Fisher Scientific, Inc., Merck & Co., Inc., Bio-Rad Laboratories, Inc., Agilent Technologies, Inc., Illumina, Inc., PerkinElmer, Inc., BD, Bruker, Hitachi High-Technologies Corporation among others

Our market analysis also entails a section solely dedicated to such major players wherein our analysts provide an insight into the financial statements of all the major players, along with product benchmarking and SWOT analysis. The competitive landscape section also includes key development strategies, market share and market ranking analysis of the above-mentioned players globally.

Global Whole Exome Sequencing Market Recent Developments
In June 2022, Agilent Technologies introduced new liquid chromatography-mass spectrometry (LC-MS) and gas chromatography-mass spectrometry (GC-MS) quadrupole mass spectrometers. The company claims that these instruments will improve instrument intelligence and diagnostics, leading to increased system uptime for customers.
In March 2022, Shimadzu Europe announced the availability of the IRXross Fourier-transform infrared (FTIR) spectrometer. This mid-level FTIR equipment offers superior performance, including high S/N ratio, resolution, measurement speed and ease of use.