The Global Rare Disease Diagnostics Market Size was valued at USD 19.5 Bn by 2020 and is expected to reach USD 34.9 Bn by 2027, with a growing CAGR of 8.6% during the forecast period.
Rare disease is defined as any disease that affects less percentage of the population and has low prevalence as compared to other diseases. Diseases such as RPI deficiency, Huntington's disorder, Duchenne muscular Dystrophy, etc affect less volume of population.
Rare Disease Diagnostics Market Dynamics
According to Labiotech.eu, around 6% of rare disease patients live in Europe and on the other hand, 7% resides in North America. Moreover, around 400 million people are suffering from rare diseases and disorders across the world. For example, the company Centogene detects 150,000 to 180,000 patients with rare diseases every year.
The driving factors for global rare disease diagnostics market include rise in prevalence of rare diseases such as porphyria, moebius syndrome, gigantism, and Wilson's diseases, growing awareness regarding orphan drugs and related treatments, and increasing mutations in genes due to external factors such as food, environment, and lifestyle.
Moreover, growing government initiatives in spreading awareness, and rise in disposable income leverage the growth of rare disease diagnostics market. However, lack of sufficient and robust clinical data, high chances of misdiagnosis and limited information about cause of diseases hinder the growth of rare disease diagnostics market.
Global Rare Disease Diagnostics Market Segmentation:
By Diseases Type
By End User
The unique insights provided by this report also includes the following:
Based on disease type, neurological disorder accounted for highest market share in 2020 and expected to increase more during the forecast period due to growing number of neurological defects constitutes to rare diseases
Based on diseases type, rare disease diagnostics market is broadly segmented into neurological disorders, immunological disorders, hematology diseases, cancer, and cardiovascular disorders (CVDs). Neurological diseases held the largest market share in 2020 due to the high number of neurological defects related infants patients and rising neurological health management. Moreover, the increasing number of genetic diagnostic procedures and growing prevalence of rare neurological disorders such as Guillain-Barre syndrome and Creutzfeldt-Jakod diseases is anticipated to grow the rare disease diagnostics market at significant rate.
However, hematology disorder is expected to witness the fastest market growth with highest CAGR during the forecast period due to increasing cases of aplastic anemia and myelofibrosis.
Based on technology, next generation sequencing accounted for the highest market share in 2020 due to increase in usage of whole exome sequencing
Based on technology, rare disease diagnostics market is segmented into next-generation sequencing, array technology, pcr-based testing, fish, and sanger sequencing. Next generation sequencing held the largest market share in 2020 and expected to increase more during the forecast period owing to increase in sensitivity and precision of sequencing techniques. WSE is considered as a standard diagnosis procedure for rare diseases patients. Moreover, decrease in cost of WES procedures further leverage the growth of this segment in rare disease diagnostics market.
Based on testing, molecular genetic test accounted for the highest market share in 2020 and expected to increase more during forecast period due to advances in technologies associated with clinical testing
Based on testing, rare disease diagnostics market is broadly segmented into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. Molecular genetic testing held the largest market share in 2020 due to an increase in gene investigating procedures and development in handling DNA mutations leading to genetic disorders drives the growth of this segment in market.
Biochemical genetic testing accounted for second-fastest growing segment with the highest CAGR due to rising efficiency to assess the activity of gene and related abnormalities contribute to the growth of market.
Based on end user, research laboratories & CRO’s held maximum market share in 2020 due to increase in research and development activities and growing healthcare spending
Based on end user, rare disease diagnostics market is segmented into research laboratories & CRO’s, diagnostic laboratories, and hospitals & clinics. Research laboratories & CRO’s accounted for highest market share in 2020 and expected to increase more during forecast period due to growing government spending on healthcare and increase in research-based activities. Moreover, growing molecular chromosomal diagnostics and biochemical testing boost the growth of this segment in the market.
Based on geographical region, North America dominated the market in 2020 and expected to maintain same dominance during the forecast period due to high incidence of rare diseases and presence of large volume of R&D centers
Based on geography, North America dominated the market in 2020 due to presence of large volume rare disorders registries and availability of substantial number of R&D centers. Moreover, growing ultra-rare diseases, increasing cases of child patients, and rising disposable income fuels the growth of this segment in rare disease diagnostics market. Growing investments in diagnostic procedures, rising number of patients undergoing rare diseases diagnosis further boost the growth of rare disease diagnostics market.
On the contrary, Asia Pacific is expected to register the fastest market growth with highest CAGR during forecast period. This is due to increasing attention of China towards diagnostics and advances in the treatment of rare diseases.
The report also provides an in-depth analysis of rare disease diagnostics market dynamics such as drivers, restraints, opportunities, and challenges
COVID-19 Impact on the Rare Disease Diagnostics Market Analysis
Covid-19 has highly affected the industries in terms of growth, economy, health, and mental wellbeing of every individual. In this challenging situation, every industry is trying to give best services in terms of quality and safety. Covid-19 has poorly impacted the growth of rare disease diagnostics market. According to the survey, there was decline in number of patient registration for rare diseases. This tends to lower the growth for the development and manufacturing of rare disease diagnostics.
Moreover, pharmaceutical, and biotechnological companies focused on the manufacturing of vaccine for covid infection due to heavy influx of corona infection population. After the situation normalize, pharmaceutical companies and manufacturers aim to provide advance treatments to ensure the continuity of patient care by focusing on clinical trials. After covid-19 wave, it is expected that companies regain their focus towards development and manufacturing of rare diseases treatment procedures.
The report also provides an in-depth analysis of key trends in rare disease diagnostics market
The report also provides an in-depth analysis of recent news developments and investments
Company Profiles and Competitive Intelligence
The key players operating in the rare disease diagnostics market are:
Ask for free product review call with the author
Share your specific research requirements for a customized report
Request for due diligence and consumer centric studies
Request for study updates, segment specific and country level reports