Market Trends of Rare Disease Genetic Testing Industry
This section covers the major market trends shaping the Rare Disease Genetic Testing Market according to our research experts:
Whole Exome Sequencing (WES) is Expected to Witness a Significant Growth During the Forecast Period
The whole-exome sequencing segment is expected to witness significant growth over the forecast period due to the increasing applications of WES in clinical diagnosis and the growing demand for the diagnosis of rare diseases, along with the increasing R&D in the field of genomics and next-generation sequencing and increasing demand for personalized medicine.
The high adoption of the whole-exome sequencing genetic testing tool is driving the growth of the segment. This technique targets only exons, which make 1-2% of the whole genome and contains 80% of all disease-causing mutations. Such continuous technological developments are expected to provide accurate and rapid results. For instance, an article published by the BMJ Journal, in November 2021, reported that WES is available for selected patients for the routine diagnosis of rare childhood genetic diseases. The article also reported that next-generation sequencing allows hundreds or thousands of genes to be sequenced in a short period at a much lower cost.
The strategic activities of key players are estimated to further drive the segment over the forecast period. For instance, in October 2022, BGI Australia's lab achieved accreditation from the NATA to perform clinical WES in Australia. This accreditation will facilitate BGI Australia to provide services to clinical laboratories, hospitals, and other partners to detect changes in the exome that contributes to rare genetic and pediatric diseases.
North America Expected to Witness a Significant Growth During the Forecast Period
North America is expected to witness significant growth over the forecast period due to the high prevalence of rare diseases, a large number of disease registries, the presence of a substantial number of R&D facilities for ultra-rare diseases, and extensive investments in the diagnosis of disease. For instance, in 2021, the Genetic Rare Diseases Information Center (GARD) reported that there were about 7,000 known rare disease cases, which accounted for about 1 in 10 people, and 30 million people in the United States had a rare disease during 2020-2021. Thus, the high prevalence of rare diseases is increasing the demand for advanced rare disease testing devices, thereby propelling the growth of the market in the region.
The government initiatives to provide financial support and funding for the ongoing clinical trials for drug testing to overcome the high prevalence of these diseases in the United States are also supporting the market's growth. For instance, in October 2020, the US FDA carried out the Orphan Drug Act and awarded over USD 16 million for six clinical trial research studies to industry and academia for the next four years. Thus, the increasing government funding is supporting research for new drug trials and driving the growth of the market in the region.
The strategic partnerships among key market players, new product launches, and mergers and acquisitions have also propelled the market's growth in the region. For instance, in November 2021, Genomenon collaborated with Alexion and AstraZeneca Rare Disease to make the treatment and diagnosis of rare diseases more readily available. The goal of the collaboration is to empower the genetic testing laboratories with the data they need for the diagnosis of rare diseases.
Along with rising prevalence and increased approvals, the supportive healthcare infrastructure, government initiatives, and technological advancements in North America are expected to drive the market. For instance, in April 2021, Centogene entered a partnership with Takeda Pharmaceutical Company Limited to diagnose patients through access to Centogene's genetic disease testing capabilities. Thus, such technological developments are fueling the growth of the market in the region.
Due to the high prevalence of rare diseases, a large number of disease registries, the presence of a substantial number of R&D facilities for ultra-rare diseases, and extensive investments in the diagnosis of diseases, the region is expected to witness significant growth over the forecast period.
