Rare Disease Genetic Testing Market Research, Key Players, Analysis And Forecast 2030: Grand View Research Inc.
The global rare disease
genetic testing market size is
expected to reach USD 2.52 billion by
2030, registering a CAGR of 14.30%
over the forecast period, according to a new report by Grand View Research,
Inc. Effective regulatory plans to combat rare disease is one of the key
drivers of the industry. Furthermore, the presence of a substantial number of
registries that provide data and relevant information about related diseases
has aided in revenue growth over the past years. Ongoing conferences to raise
awareness about rare and ultra-rare conditions are anticipated to boost the
adoption of diagnostic kits and services. For instance, Ergomed and PSR Orphan
Experts, with their offices in the U.K., Germany, the Netherlands, Poland, and
other countries, participate in various activities that are aimed at raising
awareness in this area.
Moreover, the Canadian Organization
for Rare Disorders (CORD) offers a strong platform to streamline health policy
and a healthcare system that is dedicated to the management of patients with
disorders. The agency works with clinicians, researchers, governments, and the
diagnostic industry to advance R&D, diagnosis, treatment, and service
availability for all rare conditions in the country. As per the National
Institutes of Health (NIH), around 30 million Americans have been identified
with one of 7,000+ known rare diseases. The number of patients undergoing
disease testing is expected to increase in the coming years with growing
awareness. The U.S. celebrates Rare Disease Day and promotes developments in
this area by raising awareness.
In addition, the presence of the Rare
Diseases Clinical Research Network (RDCRN), an NIH-funded research network of
23 active consortia or research groups that includes patients, researchers, and
clinicians who are focused on the diagnosis & treatment of disorders is
anticipated to positively impact the industry. Amidst the COVID-19 pandemic,
patients with undiagnosed and rare diseases have been facing significant health
challenges. According to a study published in January 2021 by a group of
researchers from the U.S., there is an urgent need for the development of
approaches that can reduce the serious challenges affecting Rare &
Undiagnosed diseases (RUD) patients and families. The challenges include
diagnostic and/or prognostic uncertainty coupled with medical complexity
leading to poor health outcomes.
In response to the challenges created
by the pandemic, patient support groups and professional societies are actively
involved in addressing these challenges. For instance, the Rare Chromosome
Support Group (Unique), the British Society for Genomic Medicine, and Genetic
Alliance U.K. are actively involved in supporting, advocating, and providing
information to patients with diseases. Several rare conditions remain
unclassified. The charity SWAN U.K. estimated that around 6,000 children are
born each year with genetic conditions in the U.K. As per the agency, the
conditions are extremely rare and cannot be named. Thus, there is a lack of
proper diagnosis and prognosis for evidence-based treatment. At present, around
50% of the children who undergo genetic testing in the U.K. would not receive a
confirmed diagnosis.
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Around 50% of the children with
learning disabilities and approximately 60% of children with congenital
conditions do not receive a definitive diagnosis to identify the cause of their
disabilities. Furthermore, the lack of awareness among patients and families
about diagnosis and genetic testing has further impeded the industry's growth.
North America dominated the industry in 2021 due to the high incidence of rare
diseases, a large number of registries, the presence of substantial numbers of
R&D facilities in this area, and extensive investments in diagnosis. Asia
Pacific is expected to register the fastest CAGR during the forecast years
owing to the presence of a substantial number of organizations that are focusing
on disease management.
Rare Disease
Genetic Testing Market Report Highlights
- The immunological disorders segment held
a significant revue share in 2022. A rise in the cases of multiple
sclerosis drives the growth as is one of the key focus areas in this segment
- Based on technology, the NGS segment is
expected to register the fastest CAGR from 2023 to 2030
- This is due to the availability &
adoption of NGS-based gene panels for cancer, neurologic disease, CVD,
pediatric conditions, psychiatric disorders, and another rare disease
testing
- The molecular genetic tests specialty
segment held the largest revenue share in 2022 due to the high adoption in
research & clinical settings. A rise in CLIA-waived molecular genetic
tests also offers lucrative growth opportunities
- The research laboratories & CROs
end-user segment led the industry in 2022 owing to a large number of
genetic tests conducted in research laboratories and CROs
Amidst the COVID-19 pandemic, patients
with undiagnosed and rare diseases have been facing significant health
challenges. According to a study published in January 2021 by a group of
researchers from the U.S., there is an urgent need for the development of
approaches that can reduce the serious challenges affecting rare and
undiagnosed disease patients and families. The challenges include diagnostic
and/or prognostic uncertainty coupled with medical complexity leading to poor
health outcomes. In addition, clinical trials focused on rare diseases have
also been affected by the COVID-19 pandemic. The pandemic has created several
challenges for clinical trials. The challenges associated with finding,
recruiting, and retaining patients with rare diseases have majorly impacted
clinical trials.
Establishing a specific diagnosis for
rare diseases is one of the primary challenges for clinicians and thus incurs a
significant healthcare expenditure worldwide. However, the advent of NGS
technologies has significantly driven research and diagnosis in this area. NGS
has not only improved the diagnostic workflows but has also played a vital role
in providing an unprecedented procedure for deciphering novel
disease-associated genes. Along with offering inexpensive and rapid genetic
diagnosis, NGS has also highlighted the relevance of de novo and mosaic mutations,
deciphered the wide phenotypic spectrum of genes, and identified the presence
of more than one rare disease in the same patient or digenic inheritance.
Furthermore, the plummeting cost of sequencing has driven the adoption of NGS
specialty in disease management.
List of Key
Players in the Rare Disease Genetic Testing Market
- Quest Diagnostics Inc.
- Centogene N.V.
- Invitae Corp.
- 3billion, Inc.
- Arup Laboratories
- Eurofins Scientific
- Strand Life Sciences
- Ambry Genetics
- Perkin Elmer, Inc.
- Realm IDX, Inc.
- Macrogen, Inc.
- Baylor Genetics
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