市場調查報告書
商品編碼
1466419
罕見疾病基因檢測市場:按疾病類型、技術、專業和最終用戶分類 - 全球預測 2024-2030Rare Disease Genetic Testing Market by Disease Type (Cancer, Cardiovascular Disorders, Dermatology Diseases), Technology (Array Technology, FISH, Karyotyping), Specialty, End-User - Global Forecast 2024-2030 |
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預計2023年罕見疾病基因檢測市場規模為13.3億美元,預計2024年將達15.4億美元,2030年將達38億美元,複合年成長率為16.15%。
罕見疾病基因檢測是指分析DNA、RNA、染色體、蛋白質和特定代謝物以識別可能導致罕見疾病的基因突變和異常的過程。由於許多罕見疾病是遺傳性的,因此此類測試對於早期、準確的診斷至關重要。基因組技術的進步顯著降低了基因檢測的成本並提高了速度和準確性。此外,人們越來越認知到和理解早期準確診斷在罕見疾病管理中的重要性,也增加了對這些測試的需求。然而,潛在的不確定性和模糊性結果、隱私問題以及潛在的基因歧視都會影響基因檢測的效用。為了解決這些問題,必須實施嚴格的指導方針和法規,以確保基因檢測的隱私和道德行為。隨著科學的不斷進步,更複雜和更全面的測試方法(例如次世代定序)的發展即將到來。此外,消費者主導的醫療保健趨勢的成長可能會加強直接面對消費者的基因檢測套組市場。
主要市場統計 | |
---|---|
基準年[2023] | 13.3億美元 |
預測年份 [2024] | 15.4億美元 |
預測年份 [2030] | 38億美元 |
複合年成長率(%) | 16.15% |
開發先進測試以滿足罕見遺傳疾病的篩檢需求
對罕見癌症的基因檢測可以識別促進腫瘤形成的遺傳突變和體細胞突變。此類測試對於個人化醫療方法至關重要,因為它們可以標靶治療提供資訊。心血管疾病的基因檢測可以識別導致心肌病和心律不整等疾病的突變,對患者管理和家庭篩檢具有重要意義。罕見的遺傳性皮膚病(例如先天性水皰症)已成為基因診斷測試的焦點,以幫助管理和潛在的基因治療。先天性腎上腺增生症和苯酮尿症等疾病需要基因檢測來確診,並進行飲食和醫療干預。罕見血液疾病(即血友病和鐮狀細胞疾病)的基因檢測對於治療方法決策、預後和遺傳諮詢非常有用。對於原發性免疫力缺乏等免疫性疾病,基因檢測可以確定特異性的免疫功能障礙並指導適當的治療。影響肌肉骨骼系統的罕見遺傳疾病,包括Duchenne氏肌肉失養症,可以從早期療育和遺傳諮詢的基因檢測中受益。亨廷頓舞蹈症和各種共濟失調等疾病的基因檢測對於預後、對症治療計劃和生殖決策至關重要。
最終用戶:學術實驗室稀有基因測試的新研究
診斷實驗室作為進行基因分析的主要場所,在罕見疾病基因檢測市場中發揮至關重要的作用。基於需求的偏好的出現是因為診斷實驗室擁有提供全面基因檢測服務的專業知識,這對於準確的診斷和治療計劃至關重要。這些實驗室配備了先進的技術,可以進行從定序到基因組的各種基因檢測。醫院和診所也是罕見疾病基因檢測的重要最終用戶,為患者提供直接護理和診斷。在這些環境中,優先考慮與患者管理無縫整合並支援多學科護理方法的基因檢測服務。研究機構和委外研發機構(CRO) 是罕見疾病基因檢測的專門最終用戶,受支持研究計劃和藥物開發需求的驅動。在這些環境中,基因檢測用於了解疾病病理學、識別生物標記和推進臨床試驗。
區域洞察
在強大的領先公司和支持性法規結構的支持下,美洲擁有強大的基因檢測基礎設施以及醫療保健提供者和患者的高意識。對罕見疾病研究的研究和投資正在促進基因檢測的普及和生產。儘管亞太地區正在快速成長,但罕見疾病基因檢測的取得和採用仍有差異。日本和澳洲在技術進步和加大政府支持方面處於領先地位。與全球公司的合作正在影響該地區的生產和使用,當地公司也擴大投資於研發。另一方面,EMEA(歐洲、中東和非洲)地區呈現多樣化的模式。西歐在技術採用和生產能力方面與美洲相似,老字型大小企業推動成長。包括 GDPR 在內的歐盟法規影響基因資料的使用,並對市場產生正面和負面的影響。中東和非洲是正在慢慢獲得認可的新興市場。這些地區的基因檢測只是零星使用,主要是透過國際援助和夥伴關係來促進的。該地區的公司包括大型跨國診斷公司和專門從事罕見疾病遺傳學的專業生物技術公司。
FPNV定位矩陣
FPNV定位矩陣對於評估罕見疾病基因檢測市場至關重要。我們檢視與業務策略和產品滿意度相關的關鍵指標,以對供應商進行全面評估。這種深入的分析使用戶能夠根據自己的要求做出明智的決策。根據評估,供應商被分為四個成功程度不同的像限:前沿(F)、探路者(P)、利基(N)和重要(V)。
市場佔有率分析
市場佔有率分析是一種綜合工具,可以對罕見疾病基因檢測市場供應商的現狀進行深入而深入的研究。全面比較和分析供應商在整體收益、基本客群和其他關鍵指標方面的貢獻,以便更好地了解公司的績效及其在爭奪市場佔有率時面臨的挑戰。此外,該分析還提供了對該行業競爭特徵的寶貴見解,包括在研究基準年觀察到的累積、分散主導地位和合併特徵等因素。這種詳細程度的提高使供應商能夠做出更明智的決策並制定有效的策略,從而在市場上獲得競爭優勢。
1. 市場滲透率:提供有關主要企業所服務的市場的全面資訊。
2. 市場開拓:我們深入研究利潤豐厚的新興市場,並分析其在成熟細分市場的滲透率。
3. 市場多元化:提供有關新產品發布、開拓地區、最新發展和投資的詳細資訊。
4.競爭評估與資訊:對主要企業的市場佔有率、策略、產品、認證、監管狀況、專利狀況、製造能力等進行全面評估。
5. 產品開發與創新:提供對未來技術、研發活動和突破性產品開發的見解。
1.罕見疾病基因檢測市場規模及預測如何?
2.罕見疾病基因檢測市場預測期內需要考慮投資的產品、細分市場、應用和領域有哪些?
3.罕見疾病基因檢測市場的技術趨勢和法規結構是什麼?
4.罕見疾病基因檢測市場主要廠商的市場佔有率如何?
5.進入罕見疾病基因檢測市場的合適型態和策略性手段是什麼?
[181 Pages Report] The Rare Disease Genetic Testing Market size was estimated at USD 1.33 billion in 2023 and expected to reach USD 1.54 billion in 2024, at a CAGR 16.15% to reach USD 3.80 billion by 2030.
Rare disease genetic testing refers to the process of analyzing DNA, RNA, chromosomes, proteins, or certain metabolites to identify genetic mutations or abnormalities that may lead to a rare disease. Since rare diseases are predominantly genetic in origin, such tests are pivotal for early and accurate diagnosis. Advances in genomic technologies have significantly reduced the cost and increased the speed and accuracy of genetic tests. Moreover, there is a growing awareness and understanding of the importance of early and precise diagnosis in managing rare diseases, which has led to a rise in demand for these tests. However, the possibility of uncertain or ambiguous results and issues related to privacy, and the potential for genetic discrimination impact the utility of genetic testing. To address these issues, stringent guidelines and regulations must be enforced to ensure the privacy and ethical conduct of genetic testing. With ongoing scientific advancements, the development of more sophisticated and comprehensive testing methods, such as next-generation sequencing, is on the horizon. Additionally, there is an increasing trend toward consumer-driven healthcare, which may bolster the market for direct-to-consumer genetic testing kits.
KEY MARKET STATISTICS | |
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Base Year [2023] | USD 1.33 billion |
Estimated Year [2024] | USD 1.54 billion |
Forecast Year [2030] | USD 3.80 billion |
CAGR (%) | 16.15% |
Disease Type: Development of advanced tests to cater to the screening needs of rare genetic diseases
Genetic tests for rare cancers can identify hereditary or somatic mutations that drive tumorigenesis. Such tests are critical for personalized medicine approaches, as they can inform targeted therapies. Genetic testing for cardiovascular disorders can pinpoint mutations that contribute to conditions such as cardiomyopathies and arrhythmias, which have significant implications for patient management and family screening. Rare genetic skin diseases, such as epidermolysis bullosa, have been the focus of genetic diagnostic tests to help with management and potential gene therapy. Conditions such as congenital adrenal hyperplasia and phenylketonuria require genetic testing to confirm diagnoses and enable dietary and medical interventions. Genetic tests for rare hematological conditions, namely hemophilia and sickle cell disease, are valuable for treatment decisions, prognosis, and genetic counseling. Immunological disorders such as primary immunodeficiencies where genetic testing can determine specific immune dysfunctions to guide appropriate treatments. Rare genetic disorders affecting the musculoskeletal system, including Duchenne Muscular Dystrophy, benefit from genetic testing for early intervention and genetic counseling. Genetic tests for disorders such as Huntington's disease and various ataxias are essential for prognosis, symptomatic treatment plans, and reproductive decisions.
End-User: Emerging studies on rare genetic testing in research laboratories in academic institutes
Diagnostic laboratories play a pivotal role in the rare disease genetic testing market as a primary setting for conducting genetic analyses. The need-based preference for diagnostic laboratories arises from their expertise in providing comprehensive genetic testing services, which are essential for accurate diagnosis and guiding treatment plans. These laboratories are well-equipped with advanced technologies capable of performing a wide array of genetic assays, from sequencing to gene panels. Hospitals and clinics represent another critical end-user of rare disease genetic testing, offering direct patient care and diagnosis. These settings prioritize genetic testing services that integrate seamlessly with patient management and allow for multidisciplinary approaches to care. Research laboratories and contract research organizations (CROs) are specialized end-users whose preference for rare disease genetic testing is driven by the need to support research initiatives or drug development. These settings use genetic testing for understanding disease pathology, identifying biomarkers, and advancing clinical trials.
Regional Insights
The Americas exhibit a robust genetic testing infrastructure and a high awareness level among healthcare providers and patients, bolstered by a strong presence of leading companies and supportive regulatory frameworks. Reimbursement policies and investments in rare disease research contribute to the widespread use and production of genetic tests. The APAC region, while rapidly growing, reveals disparities in access and adoption of rare disease genetic testing. Japan and Australia lead with advancements in technology and increasing government support. Collaborations with global entities shape the production and use in this region, and a growing number of local players are investing in R&D. Meanwhile, the EMEA region presents a diverse landscape; Western Europe mirrors the Americas in terms of technology adoption and production capabilities, with well-established companies driving growth. The EU's regulations, including GDPR, impact genetic data usage, having both positive and negative implications on the market. The Middle East and Africa are nascent markets where awareness is gradually increasing. Genetic testing in these areas is sporadically utilized, primarily facilitated by international aid and partnerships. Companies range from large multinational diagnostics firms to specialized biotechs focused on rare disease genetics in this region.
FPNV Positioning Matrix
The FPNV Positioning Matrix is pivotal in evaluating the Rare Disease Genetic Testing Market. It offers a comprehensive assessment of vendors, examining key metrics related to Business Strategy and Product Satisfaction. This in-depth analysis empowers users to make well-informed decisions aligned with their requirements. Based on the evaluation, the vendors are then categorized into four distinct quadrants representing varying levels of success: Forefront (F), Pathfinder (P), Niche (N), or Vital (V).
Market Share Analysis
The Market Share Analysis is a comprehensive tool that provides an insightful and in-depth examination of the current state of vendors in the Rare Disease Genetic Testing Market. By meticulously comparing and analyzing vendor contributions in terms of overall revenue, customer base, and other key metrics, we can offer companies a greater understanding of their performance and the challenges they face when competing for market share. Additionally, this analysis provides valuable insights into the competitive nature of the sector, including factors such as accumulation, fragmentation dominance, and amalgamation traits observed over the base year period studied. With this expanded level of detail, vendors can make more informed decisions and devise effective strategies to gain a competitive edge in the market.
Key Company Profiles
The report delves into recent significant developments in the Rare Disease Genetic Testing Market, highlighting leading vendors and their innovative profiles. These include 3billion, Inc., Ambry Genetics Corporation, Arup Laboratories, Baylor Genetics, Biora Therapeutics, Inc., Blueprint Genetics Oy, Caris Life Sciences, Centogene N.V., Color Health, Inc., F. Hoffmann-La Roche Ltd., Fulgent Genetics, Inc., GeneDx, LLC, Genomelink, Inc., Helix OpCo, LLC, Illumina, Inc., Integrated DNA Technologies, Inc. by Danaher Corporation, Invitae Corporation, Laboratory Corporation Of America Holdings, Macrogen, Inc., Myriad Genetics, Inc., Nonacus Limited, OPKO Health, Inc., PerkinElmer Inc., QIAGEN N.V., Quest Diagnostics Incorporated, Realm IDX, Inc., Sanofi S.A., The Cooper Companies, Inc., Thermo Fisher Scientific Inc., and Variantyx, Inc..
Market Segmentation & Coverage
1. Market Penetration: It presents comprehensive information on the market provided by key players.
2. Market Development: It delves deep into lucrative emerging markets and analyzes the penetration across mature market segments.
3. Market Diversification: It provides detailed information on new product launches, untapped geographic regions, recent developments, and investments.
4. Competitive Assessment & Intelligence: It conducts an exhaustive assessment of market shares, strategies, products, certifications, regulatory approvals, patent landscape, and manufacturing capabilities of the leading players.
5. Product Development & Innovation: It offers intelligent insights on future technologies, R&D activities, and breakthrough product developments.
1. What is the market size and forecast of the Rare Disease Genetic Testing Market?
2. Which products, segments, applications, and areas should one consider investing in over the forecast period in the Rare Disease Genetic Testing Market?
3. What are the technology trends and regulatory frameworks in the Rare Disease Genetic Testing Market?
4. What is the market share of the leading vendors in the Rare Disease Genetic Testing Market?
5. Which modes and strategic moves are suitable for entering the Rare Disease Genetic Testing Market?