Global Rare Disease Testing Market Research Report: Forecast (2021-2026)

A rare disease is any disease that affects less than 5 in 10000 people, states WHO (World Health Organization), There are over 7000 such diseases and most of them have no effective treatment.

According to MarkNtel Advisors, the Global Rare Disease Testing Market is anticipated to grow at a CAGR of around 9.29% during the forecast period, i.e., 2021-26. The market growth primarily attributes to the increasing prevalence of genetic disorders & various types of cancer. In addition to this, the paradigm shifts from reaction to prevention on a global level, increasing research funding, and surging usage of new techniques & developments are other crucial factors driving the market.

The research report “Global Rare Disease Testing Market Analysis, 2021” also states that the global market is expected to grow significantly due to various opportunities that lie within its domain. These include the massive scope toward adopting NGS (Next-Generation Sequencing) in emerging nations and technological advancements in molecular techniques for the whole genome & exome sequencing.

The Impact of COVID-19 on Global Rare Disease Testing Market

• Last year, the COVID-19 pandemic negatively impacted the Global Rare Disease Testing Market.
• The burgeoning number of COVID-19 cases prioritized healthcare services for COVID-19 patients.
• It led to worsening situations for patients with rare diseases due to the cancellation of their appointments.
• Hence, the interrupting care and lack of healthcare services resulted in the underdiagnoses of rare diseases, which, in turn, negatively influenced the market growth globally.
• Further, rare disease organizations experienced various other challenges, including canceled fundraising events, reduced investments, and the emergence of remote working.
• However, as the lockdown restrictions got relaxed in later 2020, the market is recovering.
• Moreover, owing to the resumption of consultation & diagnosis of rare diseases, the market is expected to witness steady growth in the coming years.

Market Segmentation

By Technology:

Complete Genome & Complete Exome Technologies: Most Widely Used in the Rare Disease Testing Market

Complete Genome & Complete Exome technologies have evolved in terms of high resolution & accuracy, sequencing speed, throughput, and cost-effectiveness in genomic analysis to accelerate biological & biomedical research. These technologies are implemented in several applications like oncology, reproductive health, and cardiovascular, coupled with rare disease/infectious disease/metabolic immune diagnostics.

They include all methods & tests for disease identification and comprehend the predisposition for a disease by analyzing the DNA or RNA of an organism. The rapid advances in these technologies have significantly enabled advanced research activities and resulted in practical diagnosis methods.

Their primary application is to determine changes in expression levels or sequence in crucial genes involved in the disease. However, reproducibility of tests, statistical analysis of phenotypic data, and defining the candidate gene using genome approaches are a few challenges with complete genome & exome technologies.

By Type:

Demand for Neurological Diseases Testing to Witness Fastest Growth During 2021-26

In 2021, Neurological Disease Testing captured more than 20% of the revenue share, and its dominance would continue to prevail during 2021-26. Neurological disease testing involves assessing hearing, vision, balance, coordination, speech, sensory skills, and mental status & behavior. Laboratory screening of urine, blood, & other body fluids helps doctors test & understand disease severity and monitor levels of therapeutic drugs. Genetic testing can also be used to diagnose hereditary disorders.

The neurological disease testing type segment is expected to grow at a lucrative rate over the coming years due to the rising prevalence of neurological disorders in the recent past. Further, mounting initiatives by private & government organizations to raise awareness regarding neurological disorders by sharing knowledge of diagnosis & treatment about the disease shall also boost the market.

Regional Landscape:

North America Dominates the Global Rare Disease Testing Market

The Rare Disease Diagnostics Market in North America shall be driven mainly by the growing prominence of preventive medicines & various technological innovations. North America majorly comprises the US and Canada markets. With substantial investments in co-developing targeted microbial therapeutics & NGS, the United States dominated the regional market in 2020. Additionally, North America has a higher acceptance rate for patients with rare diseases than other regions.

In the region, several established rare disease testing manufacturers are focusing on expanding their portfolio in WGS (Whole Genome Sequencing) and WES (Whole Exome Sequencing)- based assays & kits. They are collaborating with various service providers & pharmaceutical giants to co-market sequencing solutions with their complementary precision medicine solutions.

Market Dynamics:

Key Driver

Rising Prevalence of Genetic Disorders

Rare diseases are not rare since there are more than 7000 of them, affecting 350 million people worldwide. Around 30 million people are affected by rare diseases in the U.S. About 10.00% of the world's population suffers from rare diseases. Each year, the last day of February (28th or 29th) is celebrated as World Day for Rare Diseases to increase awareness about them so that early diagnosis and treatment are possible.

In the U.S., a disease is considered rare if it affects less than 200,000 people. In Europe, near 150 million people are affected by rare diseases. It is also to say that if all people with rare diseases live in a country, it would be the 3rd most populous country in the world. The research and development, product launches, funding, collaborations are on the way as companies have started focusing on rare disease diagnosis & therapeutics.

Rare diseases affect more people than the combination of AIDS & Cancer. The prevalence distribution of rare diseases is skewed, and about 80% of rare disease patients are affected by approximately 350 such diseases. Only 5 % of them have an FDA-approved treatment. Individual diseases may be rare, but the total number of people with rare diseases is high. Hence, the rising number of rare diseases shall demand diagnostic modalities & services over time, which, in turn, would propel the overall market growth.

Market Challenges

• Expensive sequencing procedures and their application in medical treatments
• Lack of high-complexity testing centers

Key Questions Answered in the Market Research Report:

1. What are the overall statistics or estimates (Overview, Size- By Value, Forecast Numbers, Segmentation, Shares) of the Global Rare Disease Testing Market?
2. What are the region-wise industry size, growth drivers, and challenges?
3. What are the key innovations, opportunities, current & future trends, and regulations in the Global Rare Disease Testing Market?
4. Who are the key competitors, their key strengths & weaknesses, and how do they perform in the Global Rare Disease Testing Market based on a competitive benchmarking matrix?
5. What are the key results derived from the surveys conducted during the Global Rare Disease Testing Market study?