全EXOME定序市场规模依产品、技术、应用、最终用户、地区、范围和预测划分：

全EXOME定序市场规模及预测

2024 年整个EXOME定序市场规模价值 172.7 亿美元，预计到 2032 年将达到 625.1 亿美元，2026 年至 2032 年的复合年增长率为 19.24%。

全外EXOME定序(WES) 是一种遗传方法，专注于对基因的编码部分（通常称为外显子）序列测定，以捕获和分析编码蛋白质的基因组区域，提供有关遗传变异及其对健康和疾病的潜在影响的资讯。

WES 检查基因的所有蛋白质转录区，以检测与疾病相关的基因突变。 WES 用于诊断罕见的基因异常、了解癌症基因组并制定个人化治疗方案，从而提供有关疾病病因和未来治疗目标的资讯。

这项技术有望透过识别与疾病相关的基因突变、指导标靶治疗和改善患者预后来改善个人化医疗。它将有助于诊断罕见遗传疾病，推进药物研发，改善基因研究，并最终推动精准医疗的发展。

全球全外EXOME定序市场动态

关键市场驱动因素

遗传性疾病盛行率不断上升：根据美国国立卫生研究院 (NIH) 的报告，超过 2500 万至 3000 万美国患有罕见疾病，其中许多是遗传性疾病。如此庞大的患者群体催生了全EXOME定序的需求。

定序成本不断下降：根据美国国家人类基因组研究所 (NHGRI) 的数据，人类基因组定序成本已从 2001 年的约 1 亿美元降至近年来的不到 1,000 美元。成本的大幅下降使得全EXOME序列测定更加经济实惠。

不断扩大的癌症诊断市场：美国国家癌症美国（NCI）预测，2020年美国将新增约180万例癌症确诊病例。全外EXOME定序正在迅速应用于癌症诊断和个人化治疗计划。

增加政府对基因组研究的资助：美国国立卫生研究院人类基因组研究所 2021 财政年度的预算约为 6.04 亿美元，并支持一系列基因组研究倡议，包括使用全外EXOME定序的研究。

主要挑战

定序价格上涨：根据美国国家人类基因组研究所 (NHGRI) 的数据，儘管定序成本已大幅下降，但 2021 年全EXOME定序每个样本的成本仍为 500-1,500 美元。

报销有限：根据《医学遗传学》杂誌发表的一项研究，2019 年只有 56% 的保险计划因某些原因涵盖全外EXOME定序。

数据解释的挑战：根据美国医学遗传学和基因组学学会 (ACMG) 的数据，透过全外EXOME定序发现的变异中约有 3-5% 被归类为意义不确定的变异 (VUS)，这使得临床解释变得复杂。

道德与隐私问题：根据皮尤研究中心 2018 年的一项调查，48% 的美国人对自己的基因资讯隐私感到有些或非常担忧。

主要趋势

目前定序成本正在下降：全EXOME定序的成本正在大幅下降，从 2010 年的 1,000 美元下降到 2023 年的 300-400 美元。 13 年间 60-70% 的降幅反映了技术进步和规模经济，使 WES 更易于研究和临床应用，并且更便宜。

临床应用日益增加：从 2016 年到 2022 年，全EXOME定序的临床应用将增加 85%，到 2022 年，美国将进行约 250,000 次EXOME分析。这一增长表明 WES 在检测遗传疾病、推动个人化医疗以及改善临床决策和患者结果方面的重要性日益增强。

目录

第一章 引言

• 市场定义
• 市场区隔
• 调查方法

第二章执行摘要

• 主要发现
• 市场概览
• 市集亮点

第三章市场概述

• 市场规模和成长潜力
• 市场趋势
• 市场驱动因素
• 市场限制
• 市场机会
• 波特五力分析

4. 全外EXOME定序市场（依产品）

• 套件
• 序列产生器
• 服务

5. 全外EXOME定序市场（依技术）

• 边合成边定序（SBS）
• 离子半导体序列

6. 全外EXOME定序市场（依应用）

• 诊断
• 药物研发
• 农业和动物研究

7. 全外EXOME定序市场（依最终使用者）

• 研究中心和政府机构
• 医院和诊断中心
• 製药和生物技术公司

第八章区域分析

• 北美洲
• 美国
• 加拿大
• 墨西哥
• 欧洲
• 英国
• 德国
• 法国
• 义大利
• 亚太地区
• 中国
• 日本
• 印度
• 澳洲
• 拉丁美洲
• 巴西
• 阿根廷
• 智利
• 中东和非洲
• 南非
• 沙乌地阿拉伯
• 阿拉伯聯合大公国

第九章市场动态

• 市场驱动因素
• 市场限制
• 市场机会
• COVID-19 市场影响

第十章 竞争格局

• 主要企业
• 市场占有率分析

第十一章 公司简介

• Illumina
• Thermo Fisher Scientific
• Agilent Technologies
• BGI Genomics
• Berry Genomics
• Macrogen
• Eurofins Scientific
• Sengenics
• Novogene

第十二章 市场展望与机会

• 新兴技术
• 未来市场趋势
• 投资机会

第十三章 附录

• 简称列表
• 来源和参考文献

Whole Exome Sequencing Market Size And Forecast

Whole Exome Sequencing Market size was valued at USD 17.27 Billion in 2024 and is projected to reach 62.51 USD Billion by 2032 growing at a CAGR of 19.24% from 2026 to 2032.

Whole Exome Sequencing (WES) is a genetic approach that focuses on sequencing genes' coding sections, often known as exons. It captures and analyzes the region of the genome that codes for proteins, providing information about genetic variants and their possible effects on health and disease.

WES examines all protein-coding regions of genes to detect genetic variations associated with disease. It is used to diagnose uncommon genetic abnormalities, comprehend cancer genomes and personalize treatment, providing information about disease causes and prospective therapeutic targets.

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.

TABLE OF CONTENTS

1. Introduction

• Market Definition
• Market Segmentation
• Research Methodology

2. Executive Summary

• Key Findings
• Market Overview
• Market Highlights

3. Market Overview

• Market Size and Growth Potential
• Market Trends
• Market Drivers
• Market Restraints
• Market Opportunities
• Porter's Five Forces Analysis

4. Whole Exome Sequencing Market, By Product

• Kits
• Sequencer
• Services

5. Whole Exome Sequencing Market, By Technology

• Sequencing by Synthesis (SBS)
• ION Semiconductor Sequencing

6. Whole Exome Sequencing Market, By Application

• Diagnostics
• Drug Discovery and Development
• Agriculture and Animal Research

7. Whole Exome Sequencing Market, By End-User

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

8. Regional Analysis

• North America
• United States
• Canada
• Mexico
• Europe
• United Kingdom
• Germany
• France
• Italy
• Asia-Pacific
• China
• Japan
• India
• Australia
• Latin America
• Brazil
• Argentina
• Chile
• Middle East and Africa
• South Africa
• Saudi Arabia
• UAE

9. Market Dynamics

• Market Drivers
• Market Restraints
• Market Opportunities
• Impact of COVID-19 on the Market

10. Competitive Landscape

• Key Players
• Market Share Analysis

11. Company Profiles

• Illumina
• Thermo Fisher Scientific
• Agilent Technologies
• BGI Genomics
• Berry Genomics
• Macrogen
• Eurofins Scientific
• Sengenics
• Novogene

12. Market Outlook and Opportunities

• Emerging Technologies
• Future Market Trends
• Investment Opportunities

13. Appendix

• List of Abbreviations
• Sources and References