全エクソームシーケンシングの世界市場規模：製品別、技術別、用途別、エンドユーザー別、地域別、範囲および予測

全エクソームシーケンシング市場の規模と予測

全エクソームシーケンシング市場規模は2024年に172億7,000万米ドルと評価され、2026年から2032年にかけてCAGR 19.24％で成長し、2032年には625億1,000万米ドルに達すると予測されます。

全エクソームシーケンシング（WES）は、遺伝子のコード部分（しばしばエクソンとして知られる）の配列決定に焦点を当てた遺伝学的アプローチです。タンパク質をコードするゲノムの領域を捕捉・解析し、遺伝的変異とそれらが健康や疾病に及ぼす可能性のある影響に関する情報を提供します。

WESは遺伝子のすべてのタンパク質コード領域を検査し、疾患に関連する遺伝子変異を検出します。WESは、まれな遺伝子異常の診断、がんゲノムの理解、治療の個別化などに使用され、病気の原因や将来の治療標的に関する情報を提供します。

病気に関連する遺伝子変異を発見し、重点的な治療を指示し、患者の転帰を改善することによって、個別化医療を改善することが期待されます。希少な遺伝子疾患の診断、医薬品開発の進展、遺伝子研究の精緻化に役立ち、最終的に精密医療を推進します。

全エクソームシーケンシングの世界市場力学

主な市場促進要因

遺伝性疾患の有病率の増加：米国国立衛生研究所（NIH）の報告によると、2,500万～3,000万人以上の米国人が珍しい病気に苦しんでおり、その多くは遺伝性です。このような大規模な患者集団が、全エクソームシーケンシングの需要を生み出しています。

シーケンスコストの削減：米国国立ヒトゲノム研究所（NHGRI）によると、ヒトゲノムのシーケンスコストは、2001年の約1億米ドルから、近年では1,000ドル以下にまで減少しました。この大幅なコスト低下により、エクソーム全塩基配列決定がより手の届きやすいものになりました。

拡大するがん診断薬市場：米国国立がん研究所（NCI）は、2020年に米国で新たに確認されるがん症例はおよそ180万人になると予測しています。全エクソームシーケンシングは、がん診断や個別化治療計画に急速に採用されつつあります。

ゲノム研究に対する政府資金の増加：NIHのヒトゲノム研究所の2021会計年度の予算は約6億400万米ドルで、全エクソームシーケンシングを利用した研究を含むさまざまなゲノム研究イニシアチブを支援しています。

主な課題

シーケンス価格の高騰：National Human Genome Research Institute（NHGRI）の発表によると、シーケンスコストは劇的に低下しているもの、全エクソームシーケンシングは2021年時点でもサンプルあたり500～1,500ドルかかります。

限られた償還：Genetics in Medicine誌に掲載された研究によると、2019年に特定の理由で全エクソームシーケンシングをカバーした保険プランはわずか56％でした。

データ解釈の課題：American College of Medical Genetics and Genomics（ACMG）によると、全エクソームシーケンシングで発見された変異の約3～5％は意義不明の変異（VUS）に分類され、臨床的解釈を複雑にしています。

倫理とプライバシーに関する懸念：2018年のPew Research Centerの調査によると、アメリカ人の48％が自分の遺伝情報のプライバシーについて多少または非常に心配しています。

主な動向

現在のシーケンスコストの低下：全エクソームシーケンシングのコストは劇的に低下しており、2010年の1,000ドルから2023年には300～400ドルにまで低下しています。この13年間の60～70％の低下は、技術的進歩と規模の経済を反映しており、WESは研究および臨床応用においてより利用しやすく、より安価になっています。

臨床応用の増加：2016年から2022年にかけて、全エクソームシーケンシングの臨床利用は85％増加し、2022年までに米国で約25万件のエクソーム解析が実施されます。この増加は、遺伝子疾患の検出、個別化医療の推進、臨床的意思決定と患者の転帰の改善におけるWESの関連性の高まりを物語っています。

目次

第1章 イントロダクション

• 市場の定義
• 市場セグメンテーション
• 調査手法

第2章 エグゼクティブサマリー

• 主な調査結果
• 市場概要
• 市場ハイライト

第3章 市場概要

• 市場規模と成長の可能性
• 市場動向
• 市場促進要因
• 市場抑制要因
• 市場機会
• ポーターのファイブフォース分析

第4章 全エクソームシーケンシング市場：製品別

• キット
• シーケンサー
• サービス

第5章 全エクソームシーケンシング市場：技術別

• 合成によるシーケンス（SBS）
• イオン半導体シーケンス

第6章 全エクソームシーケンシング市場：用途別

• 診断
• 創薬および開発
• 農業および動物研究

第7章 全エクソームシーケンシング市場：エンドユーザー別

• 研究センターおよび政府機関
• 病院および診断センター
• 製薬・バイオテクノロジー企業

第8章 地域別分析

• 北米
• 米国
• カナダ
• メキシコ
• 欧州
• 英国
• ドイツ
• フランス
• イタリア
• アジア太平洋
• 中国
• 日本
• インド
• オーストラリア
• ラテンアメリカ
• ブラジル
• アルゼンチン
• チリ
• 中東・アフリカ
• 南アフリカ
• サウジアラビア
• アラブ首長国連邦

第9章 市場力学

• 市場促進要因
• 市場抑制要因
• 市場機会
• COVID-19の市場への影響

第10章 競合情勢

• 主要企業
• 市場シェア分析

第11章 企業プロファイル

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

第12章 市場の展望と機会

• 新興技術
• 今後の市場動向
• 投資機会

第13章 付録

• 略語リスト
• 出典と参考文献

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