全球罕见病基因检测市场 – 2029 年行业趋势及预测

罕见疾病基因检测市场分析及规模

基因检测是一种检测基因、染色体或蛋白质变化的医学检测。基因检测结果可用于确认疑似遗传病，或帮助确定一个人患上或遗传遗传病的风险。大多数检测用于诊断罕见遗传病，如杜氏肌营养不良症和脆性 X 综合征。基因检测通过血液样本、羊水（怀孕期间包裹胎儿的液体）或其他组织进行。对于新生儿，基因筛查检测通过刺破婴儿脚后跟获取少量血液样本进行。

Data Bridge Market Research 分析，罕见病基因检测市场在 2021 年的规模为 7.858 亿美元，预计到 2029 年将达到 19.8204 亿美元，在 2022 年至 2029 年的预测期内，复合年增长率为 12.26%。除了对市场价值、增长率、细分、地理覆盖范围和主要参与者等市场情景的见解外，Data Bridge Market Research 策划的市场报告还包括深度专家分析、患者流行病学、管道分析、定价分析和监管框架。

罕见病基因检测市场范围和细分      

Market Definition

Genetic testing is a diagnostic tool that not only aids in the identification of specific disease manifestations but also in determining the underlying causes of genetic disorders. Genetic testing has a variety of advantages such as confirming a diagnosis, determining the cause of unexplained symptoms, and identifying treatment options, including clinical trials. Genetic testing refers to a wide range of applications, ranging from family history collection and evaluation to whole genome screening. Each test has its own set of advantages and disadvantages based on the technology used and the indication for the test. A rare disease refers to a condition, disorder or disease that affects a small percentage of the population at any given time. For instance, in the European Union, it affects fewer than 1 in 2,000 individuals, in the United States, a rare disease is defined as a disease that affects less than 200,000 individuals.

Global Rare Disease Genetic Testing Market Dynamics

Drivers

• Genetic testing use in research laboratories

Genetic testing is used in the research laboratories for laboratory test to look for variations in an individual's DNA, typically in the context of medical care, ancestry studies, or forensics. A genetic test's results can be used in a medical setting to confirm a suspected genetic disease. Genetic testing is the use of a laboratory test to examine an individual’s DNA for variations, typically performed in the context of ancestry studies, forensics, medical care. These all are the certain factors which propel the growth of market.

• Rise in diagnostic testing

Diagnostic testing is used to identify a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Even though uncovering the genetic cause behind a condition may not directly impact treatment options, it will provide physicians and the families with useful information. For instance, physicians can combine genetic testing with existing clinical and biochemical analyses to accurately confirm a disease diagnosis. These are the factors which boost the market’s growth.

Opportunities

• Rise in disease testing

The Canadian organization for rare disorders (CORD) provides a strong platform for streamlining health policy and a healthcare system dedicated to the management of patients with disorders. The agency works with clinicians, researchers, governments and the diagnostic industry to advance research and development, diagnosis, treatment, and service availability for all rare conditions in the country. According to the National Institutes of Health (NIH), approximately 30 million Americans have been diagnosed with one of the 7,000+ known rare diseases. With increased awareness, the number of patients undergoing disease testing is expected to rise in the coming years.

Restraints/Challenges

• Dearth of trained healthcare personnel

Lack of regulatory framework in emerging economies associated with dearth of trained healthcare personnel will obstruct the market's growth rate.

This rare disease genetic testing market report provides details of new recent developments, trade regulations, import-export analysis, production analysis, value chain optimization, market share, impact of domestic and localized market players, analyses opportunities in terms of emerging revenue pockets, changes in market regulations, strategic market growth analysis, market size, category market growths, application niches and dominance, product approvals, product launches, geographic expansions, technological innovations in the market. To gain more info on the rare disease genetic testing market contact Data Bridge Market Research for an Analyst Brief, our team will help you take an informed market decision to achieve market growth.

COVID-19 Impact on the Rare Disease Genetic Testing Market

Patients with undiagnosed and rare diseases have faced significant health challenges as a result of the COVID-19 pandemic. According to a study published in January 2021 by a group of researchers from the United States, there is an urgent need for the development of approaches that can reduce the serious challenges faced by patients and families with rare and undiagnosed diseases. The difficulties include diagnostic or prognostic uncertainty, as well as medical complexity, which leads to poor health outcomes. Furthermore, the COVID-19 pandemic had an impact on clinical trials focusing on rare diseases. Clinical trials have faced several challenges as a result of the pandemic. The difficulties in locating, recruiting, and retaining patients with rare diseases had a significant impact on clinical trials.

Recent developments

• In December 2020, Cell ID Pte. Ltd., a Singapore-based company that manufactures genetic testing products, will launch the Quiz PCR Biochip, a portable genetic test for COVID-19. This is a portable palm-sized moveable genetic test kit that uses an app to determine whether or not a person has COVID-19. This device also included a QR code for tracking purposes. The device employs pooled screening technology. This is easily portable and can conduct tests at any time
• In January 2022, Exact Sciences, a US-based manufacturer of genetic testing tools and a molecular diagnostics company acquired Prevention Genetics for $190 million. Exact Sciences hopes to increase hereditary cancer testing for more patients as a result of this acquisition

Global Rare Disease Genetic Testing Market Scope

The rare disease genetic testing market is segmented on the basis of disease type, technology, speciality, end-user. The growth amongst these segments will help you analyze meagre growth segments in the industries and provide the users with a valuable market overview and market insights to help them make strategic decisions for identifying core market applications.

Disease Type

• Neurological Disorders
• Immunological Disorders
• Hematology Diseases
• Endocrine
• Metabolism Diseases
• Cancer
• Musculoskeletal Disorders
• Cardiovascular Disorders (CVDs)
• Dermatology Disease
• Others

Technology

• Next-Generation Sequencing (NGS)
• Whole Exome Sequencing
• Whole Genome Sequencing
• Array Technology
• PCR-based Testing
• FISH
• Sanger Sequencing
• Karyotyping

Specialty

• Molecular Genetic Tests
• Chromosomal Genetic Tests
• Biochemical Genetic Tests

 End Use

• Research Laboratories
• CROs
• Diagnostic Centers
• Hospitals
• Clinics

Rare Disease Genetic Testing Market Regional Analysis/Insights

The rare disease genetic testing market is analysed and market size insights and trends are provided by country, disease type, technology, speciality, end-user as referenced above.

罕见病基因检测市场报告涵盖的国家包括北美洲的美国、加拿大和墨西哥、欧洲的德国、法国、英国、荷兰、瑞士、比利时、俄罗斯、意大利、西班牙、土耳其、欧洲其他地区、亚太地区（APAC）的中国、日本、印度、韩国、新加坡、马来西亚、澳大利亚、泰国、印度尼西亚、菲律宾、亚太地区（APAC）的其他地区、中东和非洲（MEA）的其他地区、南美洲的巴西、阿根廷和南美洲其他地区。

由于罕见病登记处数量众多且针对罕见病和极罕见病的研发活动数量众多，北美在罕见病基因检测市场占据主导地位。

由于该地区认知度和目标人口的不断增加，预计亚太地区将在 2022 年至 2029 年的预测期内实现最高增长率。

报告的国家部分还提供了影响单个市场因素和国内市场监管变化，这些因素和变化会影响市场的当前和未来趋势。下游和上游价值链分析、技术趋势和波特五力分析、案例研究等数据点是用于预测单个国家市场情景的一些指标。此外，在提供国家数据的预测分析时，还考虑了全球品牌的存在和可用性以及它们因来自本地和国内品牌的激烈或稀缺竞争而面临的挑战、国内关税和贸易路线的影响。

竞争格局和罕见疾病基因检测市场份额分析

罕见病基因检测市场竞争格局按竞争对手提供详细信息。详细信息包括公司概况、公司财务状况、收入、市场潜力、研发投资、新市场计划、全球影响力、生产基地和设施、生产能力、公司优势和劣势、产品发布、产品宽度和广度、应用主导地位。以上提供的数据点仅与公司对罕见病基因检测市场的关注有关。

罕见病基因检测市场的一些主要参与者包括：

• Quest Diagnostics Incorporated（美国）
• Centogene NV (德国)
• Strand Life Sciences（班加罗尔）
• Ambry Genetics（美国）
• PerkinElmer, Inc.（美国）
• Macrogen, Inc. (韩国)
• 贝勒遗传学（美国）
• HNL 实验室医学（美国）
• Preventiongenetics（美国）
• 3billion, Inc. (韩国)
• Arup 实验室（美国）
• HNL 实验室医学（美国）
•  Preventiongenetics（美国）
• Invitae Corporation（美国）
•  Eurofins Scientific（卢森堡）
•  Strand Life Sciences（印度）
•  Realm IDX, Inc. (中国)
•  Myriad Genetics, Inc.（美国）
•  美国实验室控股公司（美国）
•  Opko Health, Inc.（美国）

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