Rare disease diagnostics by whole genome and exome sequencing are disruptive technological developments in the healthcare industry, which have paved the path for the development of several breakthrough treatments and procedures aimed to address the primary concerns for global health.
The development of next-generation sequencing technology has introduced fundamental changes in the process of genome sequencing to reduce cost and turnaround time. With its immense potential, next-generation sequencing enables the understanding of the threat that a disease can pose to an individual and aid in the development of precise curative medical procedures.
Advancements in the genetic sequencing technology and molecular techniques are helping to improve the efficiency of the diagnostic process. Several therapeutic strategies and web-based tools are developed to help healthcare professionals in differential diagnosis. According to the European Organisation for Rare Disease, 25 percent of diagnoses are delayed by five years.
The global rare disease diagnostics market is dominated by juggernauts, such as Laboratory Corporation of America Holdings, Quest Diagnostics Incorporated, Illumina, Inc., BGI, and Genomic Health, Inc. With the increasing demand for faster and accurate genomic profiling measures, companies have the opportunity to expand their product portfolios in the market through different strategic approaches.
Some of the strategies followed by the contributors are synergistic activities, such as collaborations, partnerships, and joint ventures, mergers and acquisitions, product launches, product approvals, and funding and expansion activities.
Companies Mentioned in the Report:
• 23andMe, Inc.
• 3billion, Inc.
• Agilent Technologies, Inc.
• Beijing Genomics Institute (BGI) Genomics Co., Ltd
• CENTOGENE N.V.
• Eurofins Scientific SE
• GENEWIZ, Inc.
• Illumina, Inc.
• In-Depth Genomics
• Invitae Corporation
• Laboratory Corporation of America Holdings
• Opko Health
• PerkinElmer, Inc.
• Quest Diagnostics Incorporated
• Travere Therapeutics, Inc.
Key Questions Answered in this Report:
• What are the possible long-term and short-term impacts of rare disease testing on the human health continuum?
• What are the major market drivers, challenges, and opportunities in the rare disease testing?
• What are the key development strategies being implemented by the major players in order to sustain in the competitive market?
• What are the key regulatory implications in developed and developing regions for the global rare disease diagnostics market?
• How are service-based companies impacting the growth of the global rare disease testing industry and further shaping up future trends?
• How is each segment of the market expected to grow during the forecast period from 2020 to 2030?
• Who are the leading players with significant offerings to the global rare disease diagnostics market and what is the expected market dominance for each of these leading players?
• Which companies are anticipated to be highly disruptive in the future, and why?
• What are the unmet needs that are yet to be met by the global rare disease diagnostics market with respect to the application areas?
• What are the dynamics of various application areas and countries, which are impacting the global rare disease diagnostics market?
• What are the new market opportunities of various technologies that are influencing the growth of the global rare disease diagnostics market?
• How is each segment of the market is expected to grow during the forecast period from 2020 to 2030? Following are the segment types:
o Age group
o End user