市场调查报告书
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1466419
罕见疾病基因检测市场:按疾病类型、技术、专业和最终用户划分 - 全球预测 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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预计2023年罕见疾病基因检测市场规模为13.3亿美元,预计2024年将达15.4亿美元,2030年将达38亿美元,复合年增长率为16.15%。
罕见疾病基因检测是指分析DNA、RNA、染色体、蛋白质和特定代谢物以识别可能导致罕见疾病的基因突变和异常的过程。由于许多罕见疾病是遗传性的,因此此类测试对于早期、准确的诊断至关重要。基因组技术的进步显着降低了基因检测的成本并提高了速度和准确性。此外,人们越来越认识到和理解早期准确诊断在罕见疾病管理中的重要性,也增加了对这些测试的需求。然而,潜在的不确定性和模糊性结果、隐私问题以及潜在的基因歧视都会影响基因检测的效用。为了解决这些问题,必须实施严格的指导方针和法规,以确保基因检测的隐私和道德行为。随着科学的不断进步,更复杂和更全面的测试方法(例如次世代定序)的发展即将到来。此外,消费者主导的医疗保健趋势的成长可能会加强直接面向消费者的基因检测套组市场。
主要市场统计 | |
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基准年[2023] | 13.3亿美元 |
预测年份 [2024] | 15.4亿美元 |
预测年份 [2030] | 38亿美元 |
复合年增长率(%) | 16.15% |
开发先进测试以满足罕见遗传疾病的筛检需求
对罕见癌症的基因检测可以识别促进肿瘤形成的遗传突变和体细胞突变。此类测试对于个人化医疗方法至关重要,因为它们可以标靶治疗提供资讯。心血管疾病的基因检测可以识别导致心肌病和心律不整等疾病的突变,对患者管理和家庭筛检具有重要意义。罕见的遗传性皮肤病(例如先天性水疱症)已成为基因诊断测试的焦点,以帮助管理和潜在的基因治疗。先天性肾上腺增生症和苯酮尿症等疾病需要基因检测来确诊,并进行饮食和医疗干预。罕见血液疾病(即血友病和镰状细胞疾病)的基因检测对于治疗方法决策、预后和遗传咨询非常有用。对于原发性免疫力缺乏等免疫性疾病,基因检测可以确定特异性的免疫功能障碍并指导适当的治疗。影响肌肉骨骼系统的罕见遗传疾病,包括Duchenne氏肌肉失养症,可以从早期疗育和遗传咨询的基因检测中受益。亨廷顿舞蹈症和各种共济失调等疾病的基因检测对于预后、对症治疗计划和生殖决策至关重要。
最终用户:学术实验室稀有基因测试的新研究
诊断实验室作为进行基因分析的主要场所,在罕见疾病基因检测市场中发挥至关重要的作用。基于需求的偏好的出现是因为诊断实验室拥有提供全面基因检测服务的专业知识,这对于准确的诊断和治疗计划至关重要。这些实验室配备了先进的技术,可以进行从定序到基因组的各种基因检测。医院和诊所也是罕见疾病基因检测的重要最终用户,为患者提供直接护理和诊断。在这些环境中,优先考虑与患者管理无缝整合并支援多学科护理方法的基因检测服务。研究机构和委外研发机构(CRO) 是罕见疾病基因检测的专门最终用户,受支持研究计划和药物开发需求的驱动。在这些环境中,基因检测用于了解疾病病理学、识别生物标记和推进临床试验。
区域洞察
在强大的领先公司和支持性法规结构的支持下,美洲拥有强大的基因检测基础设施以及医疗保健提供者和患者的高意识。对罕见疾病研究的研究和投资正在促进基因检测的普及和生产。儘管亚太地区正在快速成长,但罕见疾病基因检测的取得和采用仍有差异。日本和澳洲在技术进步和加大政府支持方面处于领先地位。与全球公司的合作正在影响该地区的生产和使用,当地公司也越来越多地投资于研发。另一方面,EMEA(欧洲、中东和非洲)地区呈现多样化的模式。西欧在技术采用和生产能力方面与美洲相似,老字型大小企业推动成长。包括 GDPR 在内的欧盟法规影响基因资料的使用,并对市场产生正面和负面的影响。中东和非洲是正在慢慢获得认可的新兴市场。这些地区的基因检测只是零星使用,主要是透过国际援助和伙伴关係来促进的。该地区的公司包括大型跨国诊断公司和专门从事罕见疾病遗传学的专业生物技术公司。
FPNV定位矩阵
FPNV定位矩阵对于评估罕见疾病基因检测市场至关重要。我们检视与业务策略和产品满意度相关的关键指标,以对供应商进行全面评估。这种深入的分析使用户能够根据自己的要求做出明智的决策。根据评估,供应商被分为四个成功程度不同的像限:前沿(F)、探路者(P)、利基(N)和重要(V)。
市场占有率分析
市场占有率分析是一种综合工具,可以对罕见疾病基因检测市场供应商的现状进行深入而深入的研究。全面比较和分析供应商在整体收益、基本客群和其他关键指标方面的贡献,以便更好地了解公司的绩效及其在争夺市场占有率时面临的挑战。此外,该分析还提供了对该行业竞争特征的宝贵见解,包括在研究基准年观察到的累积、分散主导地位和合併特征等因素。这种详细程度的提高使供应商能够做出更明智的决策并制定有效的策略,从而在市场上获得竞争优势。
1. 市场渗透率:提供有关主要企业所服务的市场的全面资讯。
2. 市场开拓:我们深入研究利润丰厚的新兴市场,并分析其在成熟细分市场的渗透率。
3. 市场多元化:提供有关新产品发布、开拓地区、最新发展和投资的详细资讯。
4.竞争评估与资讯:对主要企业的市场占有率、策略、产品、认证、监管状况、专利状况、製造能力等进行全面评估。
5. 产品开发与创新:提供对未来技术、研发活动和突破性产品开发的见解。
1.罕见疾病基因检测市场规模及预测如何?
2.罕见疾病基因检测市场预测期内需要考虑投资的产品、细分市场、应用和领域有哪些?
3.罕见疾病基因检测市场的技术趋势和法规结构是什么?
4.罕见疾病基因检测市场主要厂商的市场占有率如何?
5.进入罕见疾病基因检测市场的合适型态和策略性手段是什么?
[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?