Rare Disease Diagnostics Market Growth, Trends And Forecast To 2030

(MENAFN- Straits Research) Introduction

This study examines the effects of uncommon diseases on a significant portion of the global population. There are over 7000 uncommon diseases, and inadequate information is available for many of them, limiting diagnostic and therapeutic options. This further complicates the distinction between clinically comparable illnesses. Varied countries have different definitions of rare diseases. Rare diseases are genetically inherited, difficult and costly to detect, and have few available treatments.

Since the technology was initially commercialised with whole-genome and exome sequencing, rare diseases diagnostics have expanded dramatically, but it is important to measure this growth and explain future trends. The industry of genomic testing is growing, and its rapid expansion is anticipated to continue. However, there are considerable obstacles that, if not solved, may impede future progress.

Market Dynamics The unmet clinical needs

Significant elements fueling the expansion of the sequencing industry are the unmet clinical need for improved tools to forecast, diagnose, treat, and monitor diseases. In addition to a greater understanding of the molecular basis of disease, patient demand, industry investment, and policies that permit the commercialization of tests without FDA approval also contribute to the expansion.

Despite the tremendous growth of the advanced sequencing business, a number of crucial concerns must be solved to permit future expansion. Significant obstacles to the expansion of this business include the relatively high total costs of delivering sequencing test results compared to other technology platforms and restricted coverage by payers. Whole-genome and exome sequencing remain very expensive due to the need for initial equipment investment, specialised staff requirements, and time-consuming variant analysis.

As the cost of WES decreases, it is anticipated that the cost of genetic testing will decrease dramatically. Make the test more accessible and affordable. In addition, medical insurance policies based on WES genetic testing have contributed to the expansion of this market segment. On the basis of the recommendations of medical specialists, a significant number of private health insurance companies will pay for genetic testing in full or in part.

Regional analysis of the global rare disease diagnostics market

The market is split into North America, Europe, Asia-Pacific, and LAMEA.

In 2019, North America held the biggest market share at almost 47 percent. A high frequency of rare disorders, a big number of rare disorders registries, the presence of a significant number of R&D facilities for rare and ultra-rare diseases, and strong investments in detecting rare disorders in the region all contribute to the expansion of the market. According to the National Institutes of Health (NIH), more than 7,000 uncommon diseases have been found in around 30 million Americans. In addition, the number of patients undergoing disease testing is anticipated to rise in the coming years, contributing to market expansion.

Asia-Pacific is anticipated to have the highest CAGR between 2020 and 2027 due to the increasing awareness and target demographic in Asian nations. China is aiming to refocus its healthcare system on the diagnosis and treatment of rare diseases. The Chinese government has placed uncommon disease management as a public health priority on its Healthy China 2030 road map. In addition, the country published its first list of uncommon ailments in June 2018 to assist patients in locating effective treatments at their local institutions.

Key Highlights

• The
  global rare disease diagnostics market
  was valued at
  USD 33.83 billion in 2021
  and is projected to reach
  USD 71.2 billion by 2030,
  registering a
  CAGR of 8.62%
  from
  2022 to 2030.
• Research laboratories and CROs accounted for the highest market share of 48% in 2020.
• North America is dominating the global market and is expected to do the same during the forecast period