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遺伝子検査の市場規模、シェア、動向、予測：タイプ、技術、用途、地域別、2025年～2033年

Genetic Testing Market Size, Share, Trends and Forecast by Type, Technology, Application, and Region, 2025-2033

出版日
発行
IMARC
ページ情報
英文 144 Pages
納期
2～3営業日
カスタマイズ可能
価格
価格表記: USDを日本円(税抜)に換算
本日の銀行送金レート: 1USD=144.91円
遺伝子検査の市場規模、シェア、動向、予測：タイプ、技術、用途、地域別、2025年～2033年
出版日: 2025年05月01日
発行: IMARC
ページ情報: 英文 144 Pages
納期: 2～3営業日
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  • 概要
  • 図表
  • 目次
概要

遺伝子検査の世界市場規模は2024年に195億米ドルとなりました。今後、IMARC Groupは、2033年には448億8,000万米ドルに達し、2025年から2033年にかけて9.70%のCAGRを示すと予測しています。現在、北米が市場を独占しており、2024年の市場シェアは45.6%を超えます。北米市場の主な原動力は、技術の進歩、個別化医療に対する需要の高まり、遺伝性疾患の有病率の上昇、政府による支援策の導入、倫理的・法的・社会的配慮の意味合いの高まりです。

遺伝子検査の市場分析：

市場の成長と規模：この分野は、一般市民がより多くの情報を得るようになり、個別化医療への意欲が高まるにつれて力強い成長を遂げています。検査技術の進歩に伴い、市場は新たなヘルスケア分野に極めて速いペースで浸透しており、ヘルスケア業界で最もダイナミックなセグメントの1つとなっています。

主な市場促進要因：主な要因は、新技術の導入、遺伝性疾患や慢性疾患の有病率の増加、遺伝リスクに関する消費者の知識の増加です。また、政府の取り組みや遺伝子調査への資金援助も市場成長を大きく後押ししており、遺伝子検査の市場がどの程度の規模であるかの正確な答えとなっています。

技術の進歩：NGS（次世代シーケンシング）とCRISPR技術の革新は、正確で予算に見合った方法を提供する検査に革命をもたらしました。これらの開発は、遺伝子検査の範囲と機会を拡大し、その結果、臨床現場と研究開発の両方で遺伝子検査の使用量が増加しています。

産業用途：検査の用途には、がん診断、遺伝子疾患診断、心血管疾患診断などが含まれます。遺伝性疾患の診断や管理にも使用できるため、現代ヘルスケアとは切っても切り離せないものとなっています。

主要市場動向：医師を介在させることなく遺伝情報を入手できる、消費者直接サービスに対する嗜好が高まっています。また、病気のスクリーニングや管理のために、検査が通常のヘルスケアの一部となりつつある傾向もあり、遺伝子検査市場の将来性に明るい見通しが示されています。

地理的動向：北米が市場を独占し、欧州、アジア太平洋がこれに続きます。ヘルスケア施設、一人当たり医療費、政府援助などの要因もこれらの地域の開発に寄与しています。ラテンアメリカと中東・アフリカの新興市場は、現在の課題にもかかわらず成長の可能性を示しています。

競合情勢：市場競争は激しく、主要企業は研究開発、戦略的提携、規制遵守に取り組んでいます。これらの企業は競争力を維持するため、検査ポートフォリオの拡充と新たな市場機会の開拓に注力しています。

課題と機会：市場は大きな成長機会を提供する一方で、検査の倫理的・法的意味合い、熟練した専門家の必要性、社会的認知の問題などの課題に直面しています。これらの課題に対処し、技術の進歩を活用することで、市場拡大とイノベーションの大きな機会がもたらされます。

遺伝子検査の市場動向：

遺伝子検査の技術の進歩

遺伝子検査の市場規模を牽引しているのは、遺伝子検査の技術の進歩です。このような技術革新により、より正確で効率的、かつコスト効率の高い遺伝子解析法が開発され、腫瘍学、薬理ゲノミクス、予測検査などの分野に検査範囲が拡大し、遺伝子検査の市場の成長をさらに後押ししています。次世代シークエンシング（NGS）などの強化されたシークエンシング技術は、遺伝子疾患に関する詳細な洞察を提供し、早期発見と個別化された治療計画を可能にします。例えば

1,914人の女性を対象とした研究で、cfDNA検査は、標準的なスクリーニングと比較して、21トリソミーと18トリソミーの偽陽性を大幅に減少させ、異数性の検出成功率は100％で、予測値も高いことが明らかになりました。さらに、プロセスが簡素化されたことで、様々なヘルスケア現場での遺伝子検査の採用が増加し、遺伝子検査市場の需要に寄与しています。

個別化医療に対する認識と需要の高まり

個別化医療に対する認識と需要の高まりも、遺伝子検査の市場の展望を形成する上で重要な役割を果たしています。個別化医療は、遺伝子情報に依存して治療をカスタマイズするもので、遺伝子検査に対する需要を高めています。この需要は、遺伝子検査が治療方針の決定や子孫の遺伝性疾患リスクの評価を行う腫瘍学や生殖医療などの分野で特に顕著です。例えば、回答率36％の調査によると、312人の回答者のうち83％が遺伝子検査のに関する問い合わせは最小限にとどめ、14％が結果の解釈に対応し、50％以上が遺伝子検査の遺伝カウンセラーや臨床現場での役割を支持し、70％がプライバシー、匿名性、アクセスに懸念のある患者に対して遺伝子検査を検討することに前向きでした。さらに、健康状態に対する遺伝的素因を理解することへの消費者の関心の高まりが、遺伝子検査の市場概観をさらに促進し、遺伝子検査の市場統計と遺伝子検査の市場動向を牽引しています。

遺伝性疾患と慢性疾患の増加

世界の遺伝性疾患と慢性疾患の増加が遺伝子検査の市場統計をさらにエスカレートさせています。遺伝子検査は、嚢胞性線維症、鎌状赤血球貧血、ハンチントン病など様々な疾患の早期発見、診断、管理において重要な役割を果たしています。さらに、がん、心血管系疾患、糖尿病などの慢性疾患の発生率の増加に伴い、これらの疾患の素因となる遺伝子変異を特定するための検査の必要性が高まっています。世界保健機関（WHO）の報告によると、がん、心血管疾患、糖尿病などの非感染性疾患（NCDs）は、世界の年間死亡者数の73％を占めています。遺伝子検査は、これらの疾患のリスクのある人を特定するのに役立ちます。検査による早期発見は患者の予後を改善し、遺伝子検査市場をさらに促進します。遺伝子検査の市場は大きく、アメリカやその他の新興諸国では、年間遺伝子検査の数が大幅に伸びています。遺伝子検査の将来性は高く、技術の進歩により精度とアクセシビリティの向上が期待されています。妊娠中の遺伝子検査もますます普及し、胎児の健康状態や遺伝的状態に関する貴重な洞察を提供しています。

目次

第1章 序文

第2章 調査範囲と調査手法

  • 調査の目的
  • ステークホルダー
  • データソース
    • 一次情報
    • 二次情報
  • 市場推定
    • ボトムアップアプローチ
    • トップダウンアプローチ
  • 調査手法

第3章 エグゼクティブサマリー

第4章 イントロダクション

  • 概要
  • 主要業界動向

第5章 世界の遺伝子検査市場

  • 市場概要
  • 市場実績
  • COVID-19の影響
  • 市場予測

第6章 市場内訳：タイプ別

  • 予測的および発症前検査
  • キャリアテスト
  • 出生前検査および新生児検査
  • 診断検査
  • 薬理ゲノム検査
  • その他

第7章 市場内訳：技術別

  • 細胞遺伝学的検査と染色体分析
  • 生化学検査
  • 分子検査
    • 主要セグメント
      • DNAシーケンシング
      • その他

第8章 市場内訳：用途別

  • がん診断
  • 遺伝性疾患の診断
  • 心血管疾患の診断
  • その他

第9章 市場内訳：地域別

  • 北米
    • 米国
    • カナダ
  • アジア太平洋地域
    • 中国
    • 日本
    • インド
    • 韓国
    • オーストラリア
    • インドネシア
    • その他
  • 欧州
    • ドイツ
    • フランス
    • 英国
    • イタリア
    • スペイン
    • ロシア
    • その他
  • ラテンアメリカ
    • ブラジル
    • メキシコ
    • その他
  • 中東・アフリカ
    • 市場内訳：国別

第10章 SWOT分析

  • 概要
  • 強み
  • 弱み
  • 機会
  • 脅威

第11章 バリューチェーン分析

第12章 ポーターのファイブフォース分析

  • 概要
  • 買い手の交渉力
  • 供給企業の交渉力
  • 競合の程度
  • 新規参入業者の脅威
  • 代替品の脅威

第13章 価格分析

第14章 競合情勢

  • 市場構造
  • 主要企業
  • 主要企業のプロファイル
    • 23andme Inc.
    • Ambry Genetics Corporation（Konica Minolta Healthcare Americas Inc.）
    • Bio-RAD Laboratories Inc.
    • Cepheid（Danaher Corporation）
    • Eurofins Scientific
    • Illumina Inc.
    • Invitae Corporation
    • Luminex Corporation（DiaSorin）
    • Myriad Genetics Inc.
    • QIAGEN
    • Quest Diagnostics
    • Thermo Fisher Scientific
図表

List of Figures

  • Figure 1: Global: Genetic Testing Market: Major Drivers and Challenges
  • Figure 2: Global: Genetic Testing Market: Sales Value (in Billion USD), 2019-2024
  • Figure 3: Global: Genetic Testing Market Forecast: Sales Value (in Billion USD), 2025-2033
  • Figure 4: Global: Genetic Testing Market: Breakup by Type (in %), 2024
  • Figure 5: Global: Genetic Testing Market: Breakup by Technology (in %), 2024
  • Figure 6: Global: Genetic Testing Market: Breakup by Application (in %), 2024
  • Figure 7: Global: Genetic Testing Market: Breakup by Region (in %), 2024
  • Figure 8: Global: Genetic Testing (Predictive and Presymptomatic Testing) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 9: Global: Genetic Testing (Predictive and Presymptomatic Testing) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 10: Global: Genetic Testing (Carrier Testing) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 11: Global: Genetic Testing (Carrier Testing) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 12: Global: Genetic Testing (Prenatal and Newborn Testing) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 13: Global: Genetic Testing (Prenatal and Newborn Testing) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 14: Global: Genetic Testing (Diagnostic Testing) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 15: Global: Genetic Testing (Diagnostic Testing) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 16: Global: Genetic Testing (Pharmacogenomic Testing) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 17: Global: Genetic Testing (Pharmacogenomic Testing) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 18: Global: Genetic Testing (Other Types) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 19: Global: Genetic Testing (Other Types) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 20: Global: Genetic Testing (Cytogenetic Testing and Chromosome Analysis) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 21: Global: Genetic Testing (Cytogenetic Testing and Chromosome Analysis) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 22: Global: Genetic Testing (Biochemical Testing) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 23: Global: Genetic Testing (Biochemical Testing) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 24: Global: Genetic Testing (Molecular Testing) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 25: Global: Genetic Testing (Molecular Testing) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 26: Global: Genetic Testing (Cancer Diagnosis) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 27: Global: Genetic Testing (Cancer Diagnosis) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 28: Global: Genetic Testing (Genetic Disease Diagnosis) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 29: Global: Genetic Testing (Genetic Disease Diagnosis) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 30: Global: Genetic Testing (Cardiovascular Disease Diagnosis) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 31: Global: Genetic Testing (Cardiovascular Disease Diagnosis) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 32: Global: Genetic Testing (Other Applications) Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 33: Global: Genetic Testing (Other Applications) Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 34: North America: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 35: North America: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 36: United States: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 37: United States: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 38: Canada: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 39: Canada: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 40: Asia-Pacific: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 41: Asia-Pacific: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 42: China: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 43: China: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 44: Japan: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 45: Japan: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 46: India: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 47: India: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 48: South Korea: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 49: South Korea: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 50: Australia: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 51: Australia: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 52: Indonesia: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 53: Indonesia: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 54: Others: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 55: Others: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 56: Europe: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 57: Europe: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 58: Germany: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 59: Germany: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 60: France: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 61: France: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 62: United Kingdom: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 63: United Kingdom: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 64: Italy: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 65: Italy: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 66: Spain: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 67: Spain: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 68: Russia: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 69: Russia: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 70: Others: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 71: Others: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 72: Latin America: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 73: Latin America: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 74: Brazil: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 75: Brazil: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 76: Mexico: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 77: Mexico: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 78: Others: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 79: Others: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 80: Middle East and Africa: Genetic Testing Market: Sales Value (in Million USD), 2019 & 2024
  • Figure 81: Middle East and Africa: Genetic Testing Market: Breakup by Country (in %), 2024
  • Figure 82: Middle East and Africa: Genetic Testing Market Forecast: Sales Value (in Million USD), 2025-2033
  • Figure 83: Global: Genetic Testing Industry: SWOT Analysis
  • Figure 84: Global: Genetic Testing Industry: Value Chain Analysis
  • Figure 85: Global: Genetic Testing Industry: Porter's Five Forces Analysis

List of Tables

  • Table 1: Global: Genetic Testing Market: Key Industry Highlights, 2024 and 2033
  • Table 2: Global: Genetic Testing Market Forecast: Breakup by Type (in Million USD), 2025-2033
  • Table 3: Global: Genetic Testing Market Forecast: Breakup by Technology (in Million USD), 2025-2033
  • Table 4: Global: Genetic Testing Market Forecast: Breakup by Application (in Million USD), 2025-2033
  • Table 5: Global: Genetic Testing Market Forecast: Breakup by Region (in Million USD), 2025-2033
  • Table 6: Global: Genetic Testing Market: Competitive Structure
  • Table 7: Global: Genetic Testing Market: Key Players
目次
Product Code: SR112025A5788

The global genetic testing market size was valued at USD 19.5 Billion in 2024. Looking forward, IMARC Group estimates the market to reach USD 44.88 Billion by 2033, exhibiting a CAGR of 9.70% from 2025-2033. North America currently dominates the market, holding a market share of over 45.6% in 2024. The North American market is primarily driven by technological advancements, escalating demand for personalized medicine, rising prevalence of genetic disorders, introduction of supportive government initiatives, and increasing implication of ethical, legal, and social considerations.

Genetic Testing Market Analysis:

Market Growth and Size: The sector is seeing strong growth as the public becomes more informed and the appetite for personalized medicine increases. With advancements in testing technologies, the market is penetrating new healthcare sectors at an extremely rapid pace and has become one of the most dynamic segments of the healthcare industry.

Major Market Drivers: The main factors are the introduction of new technologies, the increase in the prevalence of genetic diseases and chronic conditions and the increasing of the consumer's knowledge about genetic risks. Government initiatives and funding of genetic research also greatly assist the industry in market growth, which provide an accurate answer to how big is the genetic testing market.

Technological Advancements: Innovations in NGS (next-generation sequencing) and CRISPR technologies have revolutionized testing providing precise and budget-friendly methods. These developments have enlarged the range and opportunity of genetic testing, which in turn has increased the usage of it both in clinical settings and in research.

Industry Applications: The application of the testing includes cancer diagnosis, genetic disease diagnosis, and cardiovascular disease diagnosis. It can be used for diagnosing and managing genetic diseases makes it an inseparable part of modern healthcare.

Key Market Trends: There is a rising preference for direct-to-consumer services, in which users can acquire genetic information without using an intervening doctor. The market is also experiencing a trend where testing is becoming part of regular healthcare practices for disease screening and management, which indicates a positive outlook for the future of genetic testing market.

Geographical Trends: North America dominates the market, followed by Europe and the Asia Pacific. Factors including healthcare facilities, per capita medical expenditure, and governmental assistance also contribute to the development of these regions. Emerging markets in Latin America and the Middle East and Africa show potential for growth despite current challenges.

Competitive Landscape: The market is highly competitive with key players engaging in research and development, strategic partnerships, and regulatory compliance. These companies are focusing on expanding their testing portfolios and exploring new market opportunities to maintain their competitive edge.

Challenges and Opportunities: While the market offers substantial growth opportunities, it faces challenges such as ethical and legal implications of testing, the need for skilled professionals, and public perception issues. Addressing these challenges and harnessing technological advancements present significant opportunities for market expansion and innovation.

Genetic Testing Market Trends:

Advancements in genetic testing technologies

Advancements in genetic testing technologies have been instrumental in driving the genetic testing market size. These technological innovations have led to more accurate, efficient, and cost-effective genetic analysis methods, expanding the scope of testing into areas such as oncology, pharmacogenomics, and predictive testing, further driving the genetic testing market growth. Enhanced sequencing techniques, such as next-generation sequencing (NGS), provide detailed insights into genetic disorders, enabling early detection and personalized treatment plans. For instance,

A study on 1914 women revealed cfDNA testing significantly reduces false positives for trisomies 21 and 18 compared to standard screening, with a 100% success rate in detecting aneuploidies and higher predictive values. Furthermore, simplified processes have increased the adoption of genetic testing across various healthcare settings, contributing to the genetic testing market demand.

Increasing awareness and demand for personalized medicine

Increasing awareness and demand for personalized medicine have also played a significant role in shaping the genetic testing market outlook. Personalized medicine, which relies on genetic information to tailor treatments, has heightened the demand for genetic tests. This demand is particularly evident in sectors such as oncology and reproductive health, where genetic testing guides therapy decisions and assesses genetic disorder risks in offspring. For example, according to a study, survey with a 36% response rate showed that 83% of the 312 respondents had minimal inquiries about direct-to-consumer genetic testing, 14% dealt with result interpretation, and over 50% supported the role of genetic counsellors and clinical settings for genetic testing, with 70% open to considering it for patients with privacy, anonymity, or access concerns. Additionally, growing consumer interest in understanding genetic predispositions to health conditions further fuels genetic testing market overview, driving genetic testing market statistics and genetic testing market trends.

Rise in genetic disorders and chronic diseases

The rise in genetic disorders and chronic diseases globally is further escalating the genetic testing market statistics. Genetic testing plays a vital role in the early detection, diagnosis, and management of various conditions such as cystic fibrosis, sickle cell anemia, and Huntington's disease. Moreover, with the increasing incidence of chronic diseases, including cancer, cardiovascular diseases, and diabetes, there is a heightened need for testing to identify genetic mutations predisposing individuals to these conditions. The World Health Organization (WHO) reports that non-communicable diseases (NCDs), such as cancer, cardiovascular diseases, and diabetes, are responsible for 73% of global deaths annually. Genetic testing can help identify individuals at risk for these conditions. Early detection through testing improves patient outcomes, further propels the genetic testing market. The genetic testing market is substantial, with a considerable growth in the number of genetic testing per year in USA and other developed countries. Looking ahead, the future of genetic testing is promising, with continued technological advancements expected to enhance accuracy and accessibility. Genetic testing in pregnancy is also becoming increasingly prevalent, providing valuable insights into fetal health and genetic conditions.

Genetic Testing Industry Segmentation:

Breakup by Type:

  • Predictive and Presymptomatic Testing
  • Carrier Testing
  • Prenatal and Newborn Testing
  • Diagnostic Testing
  • Pharmacogenomic Testing
  • Others

Diagnostic testing accounts for the majority of the market share

The largest sector of the market is the diagnostic testing market, which is employed to reveal or confirm specific inherited disease in symptomatic people. This sector is on the rise due to its contribution to a precise diagnosis, which is necessary for appropriate treatment and control of a plethora of genetic conditions. The fact of its broad fields of using from rare genetical diseases till common conditions brings attention to this issue in medical sector. An investigation that appeared in the Journal of Molecular Diagnostics revealed that the percentage of medical professionals who had integrated genetic diagnostic testing for hereditary cancers definitely had grown from 19.8% in 2014 to 38.4% in 2018.

Breakup by Technology:

  • Cytogenetic Testing and Chromosome Analysis
  • Biochemical Testing
  • Molecular Testing
  • DNA Sequencing
  • Others

Molecular testing holds the largest share in the industry

Molecular testing represents the largest section in the market. The methodology portion cover PCR, NGS, and other filtered DNA related analysis terms. It is very practical as it can be applied for many sections, from detecting genetic changes that give rise to diseases, to exploring cancer genetics for the reason of targeted treatments, and to unearthing genetic predispositions for different conditions. The unique capability of molecular testing associated with the precision it offers has established the field of genetic diagnostics, individualized medicine, and research as a key area in molecular science, giving it a leading position in this field. A 2021 study evaluated various COVID-19 molecular tests, revealing a high sensitivity rate of 95.9% for minimizing false negatives, and a specificity rate of 97.2% to reduce false positives. Besides, cytogenetic testing, including chromosome analysis means looking through section of chromosome in attempted to get information about chromosomal abnormalities of the patient. This part has a vital role in recognition the chromosome count, missing only one chromosome could cause genetic disorders such as Down syndrome, Klinefelter syndrome or Turner syndrome. It is widely use in pre-natal testing, cancer diagnosis and also for studying cells chromosome change, which are hardly beyond disease.

The biochemical testing, on the other hand, is directed towards the measurement of the exact amount of activity in most cases of specific enzymes in the body or the levels of proteins, hormones and other substances that comprise the body. This segment is a vital step in identifying metabolic disorders that result from enzyme deficiency by determining conditions like PKU or Tay- Sachs Disease, as possible causes.

Breakup by Application:

  • Cancer Diagnosis
  • Genetic Disease Diagnosis
  • Cardiovascular Disease Diagnosis
  • Others

Genetic disease diagnosis represents the leading market segment

Genetic testing is currently utilized to diagnose a large number of diseases that are affected by both single-gene and multiple-gene factors. Genetic disease diagnosis is essential for the early detection of diseases and prompt intervention that finally aid in the condition's management. This growth is powered by its rear-rooted importance in the field of medicine which is represented in the accurate diagnoses of the genetic diseases not only for treatment but also for family planning. Between 2012 and 2022, the US led in the expansion of genetic tests, primarily for clinical diagnosis, highlighting the need for mandatory reporting and international collaboration for a comprehensive understanding of global genetic testing.

Using genetic analysis for cancer diagnosis implies finding out genetic mutations or alterations which cause cancer to develop. This portion is very vital for early tumor detection, diagnosis and controlling different categories of cancer.

Moreover, the genetic diagnosis of cardiovascular diseases involves locating these genetic variants to establish an increased risk for such heart-related defects as congenital heart defects, various cardiomyopathies, and arrhythmias.

Breakup by Region:

  • North America
  • United States
  • Canada
  • Asia-Pacific
  • China
  • Japan
  • India
  • South Korea
  • Australia
  • Indonesia
  • Others
  • Europe
  • Germany
  • France
  • United Kingdom
  • Italy
  • Spain
  • Russia
  • Others
  • Latin America
  • Brazil
  • Mexico
  • Others
  • Middle East and Africa

North America leads the market, accounting for the largest genetic testing market share

The market research report has also provided a comprehensive analysis of all the major regional markets, which include North America (the United States and Canada); Europe (Germany, France, the United Kingdom, Italy, Spain, Russia, and others); Asia Pacific (China, Japan, India, South Korea, Australia, Indonesia, and others); Latin America (Brazil, Mexico, and others); and the Middle East and Africa. According to the report, North America accounted for the largest market share.

North America is the largest segment in the world market, driven by the world class healthcare infrastructure, the high amount of money that is spent on the healthcare sector and the presence of top companies and research institutions. The region is propelled by strong private investment, in the field of personalized medicine, large investments by governments in gene research, and favorable policy decisions from the national government. Besides, genetic disorders as well as chronic diseases, with a growing number of patients and informed population ready to access testing services, boost propel this company's leading position in the market.

The European region remains of crucial importance in terms of the market structure which is based on well-developed healthcare systems and governmental financial support of genetic research. The locale's market growth is propelled by the growing awareness about genetic DNA, personalized medicine, and the availability of qualified personnel in the field of genetics.

The Asia Pacific region is experiencing a growing market come from the fact that it is a large population base, infrastructure on healthcare rising and increasing the expenditure on healthcare. The market also draws support from genetic disease awareness growth, personalized medicine demanded growth, and government initiatives in health care reform.

The Latin American market is developing steadily, it is stimulated by improvement of the healthcare infrastructure, by the growth of the wages, and by the increase in public health awareness. As region is faced with the increasing demand for testing services for diseases prevention, diagnosis, and treatment.

The middle east and Africa market holds a lot of promise of significant growth. Factors that include the rising number of healthcare expenditure, the growing prevalence of genetic diseases, as well as the heightened level of awareness of the significant effects of genetic testing across the industry are the major drivers of genetic testing in this part of the world.

Leading Key Players in the Genetic Testing Industry:

Market's key players adopt different strategies to achieve fundamental objective of strengthening their market share. This include is investing heavily in research and development to innovation and evolution of genetic testing technologies, especially in the direction of next-generation sequencing (NGS) and CRISPR. They also engage in the establishment of partnerships and collaboration with other biotech companies, academic institutions, as well as healthcare providers to help them grow in their services portfolio and geographical reach. Besides this, manufacturers are making efforts to get the new devices approved by the regulator agencies to be in compliance with regulations and guarantee the patient safety. Additionally, direct-to-consumer services have been developed with the aim of leveraging consumers' growing demand for personalized healthcare and genetic wellness.

The market research report has provided a comprehensive analysis of the competitive landscape. Detailed profiles of all major companies have also been provided. Some of the key players in the market include:

  • 23andme Inc.
  • Ambry Genetics Corporation (Konica Minolta Healthcare Americas Inc.)
  • Bio-RAD Laboratories Inc.
  • Cepheid (Danaher Corporation)
  • Eurofins Scientific
  • Illumina Inc.
  • Invitae Corporation
  • Luminex Corporation (DiaSorin)
  • Myriad Genetics Inc.
  • QIAGEN
  • Quest Diagnostics
  • Thermo Fisher Scientific

(Please note that this is only a partial list of the key players, and the complete list is provided in the report.)

Latest News:

11 July 2023: Quest Diagnostics launched Consumer-Initiated Genetic Test on questhealth.com to Deliver Personalized, Actionable Health Risk Insights. The new offering helps people understand their potential risk of developing certain inheritable health conditions, with advanced technology and end-to-end support that includes personalized health reports and access to genetic counseling.

14 April 2023: QIAGEN launched the Applied Biosystems QuantStudio Absolute Q Digital PCR System, the first fully integrated digital PCR (dPCR) system designed to provide highly accurate and consistent results within 90 minutes.

10 March 2022: Thermo Fisher Scientific introduced latest generation of SeqStudio Flex Series Genetic Analyzer to enable customer's cutting-edge research in areas such as gene editing and infectious disease.

Key Questions Answered in This Report

  • 1.What is genetic testing?
  • 2.How big is the genetic testing market?
  • 3.What is the expected growth rate of the global genetic testing market during 2025-2033?
  • 4.What are the key factors driving the global genetic testing market?
  • 5.What is the leading segment of the global genetic testing market based on type?
  • 6.What is the leading segment of the global genetic testing market based on technology?
  • 7.What is the leading segment of the global genetic testing market based on application?
  • 8.What are the key regions in the global genetic testing market?
  • 9.Who are the key players/companies in the global genetic testing market?

Table of Contents

1 Preface

2 Scope and Methodology

  • 2.1 Objectives of the Study
  • 2.2 Stakeholders
  • 2.3 Data Sources
    • 2.3.1 Primary Sources
    • 2.3.2 Secondary Sources
  • 2.4 Market Estimation
    • 2.4.1 Bottom-Up Approach
    • 2.4.2 Top-Down Approach
  • 2.5 Forecasting Methodology

3 Executive Summary

4 Introduction

  • 4.1 Overview
  • 4.2 Key Industry Trends

5 Global Genetic Testing Market

  • 5.1 Market Overview
  • 5.2 Market Performance
  • 5.3 Impact of COVID-19
  • 5.4 Market Forecast

6 Market Breakup by Type

  • 6.1 Predictive and Presymptomatic Testing
    • 6.1.1 Market Trends
    • 6.1.2 Market Forecast
  • 6.2 Carrier Testing
    • 6.2.1 Market Trends
    • 6.2.2 Market Forecast
  • 6.3 Prenatal and Newborn Testing
    • 6.3.1 Market Trends
    • 6.3.2 Market Forecast
  • 6.4 Diagnostic Testing
    • 6.4.1 Market Trends
    • 6.4.2 Market Forecast
  • 6.5 Pharmacogenomic Testing
    • 6.5.1 Market Trends
    • 6.5.2 Market Forecast
  • 6.6 Others
    • 6.6.1 Market Trends
    • 6.6.2 Market Forecast

7 Market Breakup by Technology

  • 7.1 Cytogenetic Testing and Chromosome Analysis
    • 7.1.1 Market Trends
    • 7.1.2 Market Forecast
  • 7.2 Biochemical Testing
    • 7.2.1 Market Trends
    • 7.2.2 Market Forecast
  • 7.3 Molecular Testing
    • 7.3.1 Market Trends
    • 7.3.2 Key Segments
      • 7.3.2.1 DNA Sequencing
      • 7.3.2.1 Others
    • 7.3.3 Market Forecast

8 Market Breakup by Application

  • 8.1 Cancer Diagnosis
    • 8.1.1 Market Trends
    • 8.1.2 Market Forecast
  • 8.2 Genetic Disease Diagnosis
    • 8.2.1 Market Trends
    • 8.2.2 Market Forecast
  • 8.3 Cardiovascular Disease Diagnosis
    • 8.3.1 Market Trends
    • 8.3.2 Market Forecast
  • 8.4 Others
    • 8.4.1 Market Trends
    • 8.4.2 Market Forecast

9 Market Breakup by Region

  • 9.1 North America
    • 9.1.1 United States
      • 9.1.1.1 Market Trends
      • 9.1.1.2 Market Forecast
    • 9.1.2 Canada
      • 9.1.2.1 Market Trends
      • 9.1.2.2 Market Forecast
  • 9.2 Asia-Pacific
    • 9.2.1 China
      • 9.2.1.1 Market Trends
      • 9.2.1.2 Market Forecast
    • 9.2.2 Japan
      • 9.2.2.1 Market Trends
      • 9.2.2.2 Market Forecast
    • 9.2.3 India
      • 9.2.3.1 Market Trends
      • 9.2.3.2 Market Forecast
    • 9.2.4 South Korea
      • 9.2.4.1 Market Trends
      • 9.2.4.2 Market Forecast
    • 9.2.5 Australia
      • 9.2.5.1 Market Trends
      • 9.2.5.2 Market Forecast
    • 9.2.6 Indonesia
      • 9.2.6.1 Market Trends
      • 9.2.6.2 Market Forecast
    • 9.2.7 Others
      • 9.2.7.1 Market Trends
      • 9.2.7.2 Market Forecast
  • 9.3 Europe
    • 9.3.1 Germany
      • 9.3.1.1 Market Trends
      • 9.3.1.2 Market Forecast
    • 9.3.2 France
      • 9.3.2.1 Market Trends
      • 9.3.2.2 Market Forecast
    • 9.3.3 United Kingdom
      • 9.3.3.1 Market Trends
      • 9.3.3.2 Market Forecast
    • 9.3.4 Italy
      • 9.3.4.1 Market Trends
      • 9.3.4.2 Market Forecast
    • 9.3.5 Spain
      • 9.3.5.1 Market Trends
      • 9.3.5.2 Market Forecast
    • 9.3.6 Russia
      • 9.3.6.1 Market Trends
      • 9.3.6.2 Market Forecast
    • 9.3.7 Others
      • 9.3.7.1 Market Trends
      • 9.3.7.2 Market Forecast
  • 9.4 Latin America
    • 9.4.1 Brazil
      • 9.4.1.1 Market Trends
      • 9.4.1.2 Market Forecast
    • 9.4.2 Mexico
      • 9.4.2.1 Market Trends
      • 9.4.2.2 Market Forecast
    • 9.4.3 Others
      • 9.4.3.1 Market Trends
      • 9.4.3.2 Market Forecast
  • 9.5 Middle East and Africa
    • 9.5.1 Market Trends
    • 9.5.2 Market Breakup by Country
    • 9.5.3 Market Forecast

10 SWOT Analysis

  • 10.1 Overview
  • 10.2 Strengths
  • 10.3 Weaknesses
  • 10.4 Opportunities
  • 10.5 Threats

11 Value Chain Analysis

12 Porters Five Forces Analysis

  • 12.1 Overview
  • 12.2 Bargaining Power of Buyers
  • 12.3 Bargaining Power of Suppliers
  • 12.4 Degree of Competition
  • 12.5 Threat of New Entrants
  • 12.6 Threat of Substitutes

13 Price Analysis

14 Competitive Landscape

  • 14.1 Market Structure
  • 14.2 Key Players
  • 14.3 Profiles of Key Players
    • 14.3.1 23andme Inc.
      • 14.3.1.1 Company Overview
      • 14.3.1.2 Product Portfolio
    • 14.3.2 Ambry Genetics Corporation (Konica Minolta Healthcare Americas Inc.)
      • 14.3.2.1 Company Overview
      • 14.3.2.2 Product Portfolio
    • 14.3.3 Bio-RAD Laboratories Inc.
      • 14.3.3.1 Company Overview
      • 14.3.3.2 Product Portfolio
      • 14.3.3.3 Financials
      • 14.3.3.4 SWOT Analysis
    • 14.3.4 Cepheid (Danaher Corporation)
      • 14.3.4.1 Company Overview
      • 14.3.4.2 Product Portfolio
      • 14.3.4.3 SWOT Analysis
    • 14.3.5 Eurofins Scientific
      • 14.3.5.1 Company Overview
      • 14.3.5.2 Product Portfolio
      • 14.3.5.3 Financials
      • 14.3.5.4 SWOT Analysis
    • 14.3.6 Illumina Inc.
      • 14.3.6.1 Company Overview
      • 14.3.6.2 Product Portfolio
      • 14.3.6.3 Financials
      • 14.3.6.4 SWOT Analysis
    • 14.3.7 Invitae Corporation
      • 14.3.7.1 Company Overview
      • 14.3.7.2 Product Portfolio
      • 14.3.7.3 Financials
    • 14.3.8 Luminex Corporation (DiaSorin)
      • 14.3.8.1 Company Overview
      • 14.3.8.2 Product Portfolio
      • 14.3.8.3 SWOT Analysis
    • 14.3.9 Myriad Genetics Inc.
      • 14.3.9.1 Company Overview
      • 14.3.9.2 Product Portfolio
      • 14.3.9.3 Financials
      • 14.3.9.4 SWOT Analysis
    • 14.3.10 QIAGEN
      • 14.3.10.1 Company Overview
      • 14.3.10.2 Product Portfolio
      • 14.3.10.3 Financials
      • 14.3.10.4 SWOT Analysis
    • 14.3.11 Quest Diagnostics
      • 14.3.11.1 Company Overview
      • 14.3.11.2 Product Portfolio
      • 14.3.11.3 Financials
      • 14.3.11.4 SWOT Analysis
    • 14.3.12 Thermo Fisher Scientific
      • 14.3.12.1 Company Overview
      • 14.3.12.2 Product Portfolio
      • 14.3.12.3 Financials
      • 14.3.12.4 SWOT Analysis