Rare Disease Genetic Testing Market To Reach US$ 3 Billion By 2032

Introduction

Global Rare Disease Genetic Testing Market Size is expected to be worth around US$ 3,051.6 Million by 2032 from US$ 918.94 Million in 2023, growing at a CAGR of 13.1% during the forecast period from 2023 to 2032. As of 2022, North America dominates the market with a share of 47.2%, translating into revenues of US$ 433.73 Million.

This robust growth trajectory is primarily driven by significant advancements in genomic sequencing technologies, such as next-generation sequencing (NGS). These innovations enhance the precision of detecting rare genetic mutations. Further acceleration is achieved through the integration of artificial intelligence (AI) and big data analytics, which improve the analysis and interpretation of complex genetic data, thereby increasing diagnostic accuracy.

Public and professional awareness plays a vital role in the sector’s expansion, supported by initiatives like Rare Disease Day and increased funding for genetic research. Collaborative efforts between academic institutions, healthcare providers, and technology companies also contribute to this growth. For instance, the Mayo Clinic’s Center for Individualized Medicine is notable for integrating genomics into clinical practice.

Regulatory frameworks and supportive government policies are also pivotal, facilitating research advancements and the clinical adoption of genetic tests. These policies help improve patient outcomes by addressing ethical considerations such as consent and privacy concerns, fostering patient trust and the broader acceptance of genetic testing technologies.

The industry has witnessed significant developments recently. In August 2024, Quest Diagnostics acquired LifeLabs from OMERS for approximately USD $1 billion. This acquisition aims to enhance diagnostic services and integrate LifeLabs’ capabilities in North America, potentially generating an estimated USD $710 million in annual revenues.

In April 2023, Centogene launched the NEW CentoGenome, a comprehensive Whole Genome Sequencing (WGS) test that improves diagnostic processes for rare and neurodegenerative diseases by including the detection of Copy Number Variations and complex disease-causing variants, thus enhancing diagnostic accuracy and potentially expediting treatment pathways. These developments highlight ongoing innovation within the field and underscore the market’s growth potential.

Key Takeaways

• The genetic testing market is projected to grow from US$ 918.94 million in 2023 to US$ 3,051.6 million by 2032, with a CAGR of 13.1%.
• Growing global populations necessitate genetic testing for rare diseases, which is driving market expansion.
• Enhanced accuracy from technological advancements in genetic testing is increasing its usage for diagnosing rare diseases.
• Continuous product innovations are stimulating growth in the genetic testing market.
• The high costs associated with genetic testing pose affordability challenges, particularly in low- and middle-income regions.
• The market for genetic testing for endocrine disorders is rapidly expanding, expected to grow at a 21.0% CAGR.
• Next-Generation Sequencing (NGS) technology leads the technology segment, generating over 35.22% of market revenue.
• Research laboratories and Contract Research Organizations (CROs) held over 47% of the market share among end-users in 2022.
• Diagnostic laboratories are anticipated to grow the fastest, with a projected CAGR of 16.1% throughout the forecast period.
• Asia Pacific is forecasted to experience the highest regional growth rate at an 18.1% CAGR, driven by increased diagnostic awareness and supportive government policies.

Rare Disease Genetic Testing Statistics

Prevalence and Definition

• Rare diseases are defined as conditions affecting fewer than 1 in 2,000 people in the UK and fewer than 200,000 people in the U.S.
• Globally, there are approximately 7,000 known rare diseases, a number that continues to grow with advances in research.
• About 350 million people worldwide are affected by rare diseases, accounting for around 10% of the global population.
• Genetic mutations are responsible for about 80% of these rare conditions.

Impact on Children

• Approximately 70% of rare diseases appear in childhood, often leading to chronic conditions, severe disabilities, and premature death.
• Over 30% of children with a rare disease do not survive beyond their fifth birthday.
• Early diagnosis is critical, particularly as 70% of rare diseases primarily affect children.

Diagnostic Challenges and Advances

• The average journey to a correct diagnosis of a rare disease spans nearly five years and involves consultations with over seven different specialists.
• More than one-third of patients with a rare disease experience a diagnostic delay of over five years.
• Annually, around 6,000 children in the UK are born with a genetic condition that is unnamed at birth.

Genetic Testing and Research

• The 100,000 Genomes Project has successfully diagnosed 25% of participants with previously undiagnosed rare conditions.
• As of 2018, there are 11,548 genetic diagnostic tests available, mostly postnatal, across 522 institutions primarily in Europe.
• Rapid genome sequencing is vital for detecting genetic abnormalities, examining all 3 billion DNA base pairs.
• Despite these advances, only 5% of rare diseases currently have an approved treatment, underscoring a significant gap in therapy availability.

Screening and Care Coordination

• The UK’s newborn screening program currently covers nine rare genetic conditions, with plans for expansion.
• Compared to the UK, more than 20 European countries have more comprehensive genetic screening programs, most screening for over 20 conditions.
• In the UK, only 10% of adults with a rare condition have a dedicated care coordinator, and only 40% of children with such conditions have an established care plan.

Market Analysis and Financial Aspects

• Panel-based sequencing accounts for 14% of the genetic testing market, while 55% of genetic tests still use Sanger sequencing for verification.
• In the first half of 2023, Centogene reported revenues of €24.6 million, marking a 15.1% increase from the previous year, driven by strong performances in its Pharma and Diagnostics segments.
• Centogene has secured a $30 million investment from Lifera and approximately $50 million in upfront payments and milestones through a joint venture.

Genetic Testing Usage and Access

• Somatic genetics tests for pediatric cancers and prenatal diagnosis represent about 5.24% and 5.05% of all genetic tests, respectively.
• Less than 1% of genetic tests are conducted for preimplantation genetic diagnosis, primarily due to technical complexities.
• In 2023, Mayo Clinic tested 860 patients with suspected rare diseases, successfully identifying the genetic causes in 30% of these cases.
• About 15% of patients seeking second opinions or treatment at Mayo Clinic are diagnosed with a rare disease.

Rare Disease Genetic Testing Disease Type

• Endocrine & Metabolism Diseases: Genetic testing aids in diagnosing conditions like Multiple Endocrine Neoplasia Type 1, which affects various endocrine glands. Studies focus on disorders like cystic fibrosis, hypothyroidism, and metabolic syndromes like diabetes, where genetic mutations influence disease management and treatment options. This includes understanding how different mutations affect disease presentation and progression, which is essential for developing targeted therapies.
• Immunological Disorders: Genetic testing in immunological disorders identifies specific gene mutations responsible for the conditions, facilitating targeted therapy options and better understanding of the disease mechanisms. For instance, genetic variations can predict disease severity and treatment responses in autoimmune and inflammatory disorders.
• Neurological Diseases: Genetic insights into neurological diseases like Alzheimer’s or Parkinson’s disease involve understanding specific gene mutations that influence disease risk and patient responses to treatments, enabling personalized treatment plans.
• Hematology Diseases: In hematology, genetic testing can identify mutations leading to disorders like thalassemia or sickle cell disease. Knowing the genetic profile helps in managing treatment plans and preventive strategies for complications.
• Cancer: Genetic testing identifies mutations that increase cancer risk, guide treatment options, and help in prognosis. For example, BRCA1 and BRCA2 gene mutations significantly increase the risk of breast and ovarian cancers, guiding decisions on preventive measures and treatments.
• Musculoskeletal Disorders: Genetic testing helps in diagnosing rare genetic disorders affecting bones and muscles, identifying specific mutations that can influence treatment strategies and outcomes.
• Cardiovascular Disease: In cardiovascular diseases, genetic testing can identify individuals at higher risk of conditions like hypertrophic cardiomyopathy or arrhythmias, which are crucial for early intervention and management.
• Other Disease Types: Includes a broad range of rare genetic disorders where specific genetic mutations need to be identified for accurate diagnosis and management. This could cover a variety of systems and require comprehensive genetic screening to understand the underlying genetic causes.

Emerging Trends

• Integration of AI and Digital Health Tools: The adoption of artificial intelligence (AI) and digital health tools is transforming the landscape of genetic testing for rare diseases. AI significantly enhances the efficiency of genetic data analysis, accelerating the diagnostic process and allowing healthcare providers to craft more precise treatment plans quickly. This technological advancement not only speeds up diagnosis but also facilitates the delivery of personalized healthcare solutions, improving patient outcomes.
• Advancements in Translational Genomics: Translational genomics is experiencing rapid growth, effectively converting genetic research into viable healthcare applications. This field is especially crucial for developing diagnostics and innovative therapies for rare genetic disorders like Duchenne muscular dystrophy and spinal muscular atrophy. The ability to apply genetic insights to clinical settings bridges the gap between laboratory research and patient care, transforming scientific discoveries into practical medical interventions.
• Increased Utilization of Next-Generation Sequencing (NGS) Technologies: The use of next-generation sequencing (NGS) technologies is on the rise in the study of rare diseases. NGS offers a comprehensive analysis of genetic material, aiding in the discovery of new disease-gene associations. This technology enhances diagnostic precision, enabling earlier and more accurate identification of genetic disorders. The growing reliance on NGS highlights its potential to revolutionize the diagnosis and treatment processes for rare diseases, leading to more prompt and effective healthcare solutions.
• Collaborative Networks and Enhanced Patient Engagement: There is a growing trend towards establishing collaborative research networks and patient registries to expand the reach and impact of rare disease research. These networks promote extensive data sharing and collaboration among researchers and medical professionals, which is vital for advancing our understanding of rare genetic disorders. Additionally, involving patients directly in research ensures that developments are closely aligned with their needs, resulting in more targeted and effective treatments. This approach strengthens the connection between research efforts and patient communities, propelling the advancement of specialized therapies.

Use Cases

• Enhanced Diagnostic Clarity and Family Screening: Genetic testing plays a vital role in providing clear diagnoses for individuals exhibiting non-specific symptoms, aiding in the identification of the most effective treatments. Beyond individual patient benefits, genetic testing offers the potential for family member screening. Identifying at-risk individuals allows for early intervention and preventive measures, improving health outcomes and providing families with reassurance regarding hereditary conditions.
• Tailoring Treatment Protocols: Genetic testing is crucial in identifying specific mutations that cause diseases, enabling the customization of treatment plans. This facilitates the use of targeted therapies aimed directly at the genetic underpinnings of an illness. Examples include gene therapy and biologically engineered treatments designed to correct specific genetic abnormalities associated with a patient’s condition. Such precision in treatment enhances efficacy and improves patient recovery rates.
• Prevention of Misdiagnosis: One of the significant benefits of genetic testing is its role in minimizing the misdiagnosis of rare diseases, which often exhibit symptoms similar to more common conditions. Accurate genetic analysis ensures that patients receive appropriate treatments, avoiding the risks and costs linked to incorrect diagnoses. This precision is critical in avoiding unnecessary or potentially harmful treatments, thereby protecting patient health.
• Support in Drug Development and Approval: In drug development, genetic testing is instrumental in identifying specific patient subgroups that are likely to respond to new pharmacological treatments. This stratification is essential for conducting effective clinical trials and speeding up the approval processes, such as those overseen by the U.S. Food and Drug Administration (FDA). By demonstrating the efficacy of drugs in targeted populations, genetic testing supports the development of novel therapies tailored to treat rare genetic disorders, significantly advancing the field of personalized medicine.

Conclusion

The genetic testing market is poised for substantial growth, driven by advancements in genomic sequencing and the integration of AI and big data analytics. Increasing public awareness, supportive regulatory policies, and collaborative efforts across sectors further amplify this growth. Despite challenges such as high costs and limited treatment options for many rare diseases, ongoing innovation and strategic acquisitions continue to expand market capabilities and reach. With a projected significant rise in market size and technological improvements enhancing diagnostic accuracy, genetic testing stands as a pivotal development in healthcare, promising improved outcomes for patients with rare and complex genetic disorders.

Discuss Your Needs With Our Analyst

Please share your requirements with more details so our analyst can check if they can solve your problem(s)

Request a Sample Download PDF