Rare diseases are not actually rare, it consists of more than 7000 rare diseases, affecting 350 million people worldwide. A total of 30 million people are affected by rare disease in the United States itself and about 10 % of the world population has a rare disease. Last day of February (28th or 29th) is celebrated as rare disease day to raise awareness about the same in order to make early diagnosis and treatment possible. In the United States, a disease is considered as rare if it affects more than 200,000 people. In Europe, near to 30 million people are affected by rare disease. It is considered that if all the people with rare disease lived in a country then it would be the third most populous country in the world. Countries also have their own definition of rare disease. Rare diseases are also known as orphan diseases because pharmaceutical companies were less interested in adopting them to develop treatments for such a small patient population. The US FDA then decided to design these drugs as orphan drugs and give incentives to encourage companies to develop diagnostics and treatment option for rare diseases. The major challenge in rare diseases is the lack of diagnosis and treatment options, government policies, and funding for research and development.
Rare disease organizations are created in several countries to support people suffering from rare disease and contribute in research, education, and networking among service providers. The goal of such organizations is to improve the lives of individuals and families affected by rare diseases. These organizations help to create awareness and recognition of the challenges suffered by people living with rare diseases. It is important that tools and platforms exist to support patients, their relatives, as well as healthcare professionals and researchers in the search for information to help in the diagnosis and selection of specific treatments available or even ongoing clinical trials for specific diseases.
According to a new market intelligence report by BIS Research, titled “Global Rare Disease Diagnostics Market - Analysis and Forecast, 2018-2025”, the global rare disease diagnostics market was estimated at $45.18 billion in 2017 and is anticipated to reach $86.15 billion by 2025. Rise in awareness and incidence of rare diseases, increasing involvement of big pharmaceutical companies, and development of rare disease registries, among others, are some of the factors that are expected to boost the diagnosis of rare disease, thereby accelerating the growth of the global rare disease diagnostics market.
This report is a meticulous compilation of research on more than 50 players in the market ecosystem and draws upon insights from in-depth interviews with the key opinion leaders of more than 15 leading companies, market participants, and vendors. The report also profiles 15 companies including several key players such as Retrophin, Inc., QIAGEN N.V., Illumina Inc., PerkinElmer, Inc., BGI, Partek, Inc., Centogene A.G., Strand Life Sciences Pvt Ltd., Eurofins Scientific, Laboratory Corporation of America, and Laboratory Corporation of America, among others.
Key questions answered in the report:
- What are the major market drivers, restraints, and opportunities in the global rare disease diagnostics market?
- What were the market shares of the leading segments and sub-segments of the global rare disease diagnostics market in 2017, and what will be the shares in 2025?
- How will each segment of the global rare disease diagnostics market grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2025?
- What are the influencing factors that may affect the market share of the key players?
- What are the key developmental strategies implemented by the key players to stand out in this market?
- What are the major regulatory authorities/associations/consortiums affecting the global rare disease diagnostics market and who are the key authorities facilitating the development and approval of diagnostic products/services?
- Which companies are holding gene sequencing services, and what is the epidemiology of the rare diseases?
- What are the types of genetic tests involved in the diagnosis of rare diseases, and what is the market share for various test types performed in the diagnosis of rare diseases?
- Which test type will be dominant among physicians for diagnosing rare diseases in terms of revenue?
- Which disease type is expected to have the highest CAGR during the forecast period?
- Which test type is expected to register the highest CAGR for the global rare disease diagnostics market?
- Which end user segment is expected to register the highest CAGR for the global rare disease diagnostics market?
- Which geographical region will contribute to the highest revenue for rare disease diagnosis during the forecast period?
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