Worldwide Rare Disease Genetic Testing Industry to 2026 – Development in Genetic Testing Technologies is Driving Growth –

Worldwide Rare Disease Genetic Testing Industry to 2026 – Development in Genetic Testing Technologies is Driving Growth –

Worldwide Rare Disease Genetic Testing Industry to 2026 – Development in Genetic Testing Technologies is Driving Growth –

DUBLIN–(BUSINESS WIRE)–The “Rare Disease Genetic Testing Market – Growth, Trends, COVID-19 Impact, and Forecasts (2021 – 2026)” report has been added to’s offering.

The rare disease genetic testing market is projected to register a CAGR of nearly 10% over the forecast period (2021 – 2026).

The COVID-19 pandemic impact on the rare disease genetic testing market is significant. The rise in COVID-19 cases has led to global healthcare services shift their resources toward COVID-19 care while impacting patients with rare diseases. According to the Eurordis international survey, rare disease patients seemed to have a worse experience than chronic disease patients due to the pandemic. 60% of patients have experienced interrupted care, and 80% canceled or postponed their appointments. Inability to access care is expected to make the diagnosis of potential rare diseases much more difficult.

A research study published in the Journal of Medical Genetics shows that the blood draws for genetic testing decreased from 97.7% to 94.1% during the pre-virtual and virtual care period, along with the longer time taken for patients to give their blood sample in Canada’s cancer center. The pandemic has led to the shut down of companies and other non-healthcare businesses to reduce the spread of the virus. The lack of healthcare services and canceled or postponed appointments result in the underdiagnosis of rare disease patients, which may impact the market.

Companies Mentioned

  • Quest Diagnostics Incorporated
  • Invitae Corporation
  • 3billion Inc.
  • ARUP Laboratories
  • Eurofins Scientific
  • Strand Life Sciences
  • Ambry Genetics
  • PerkinElmer Genetics Inc.
  • Macrogen Inc.
  • Baylor Genetics
  • Color Health Inc.
  • Health Network Laboratories

Key Market Trends

Next-Generation Sequencing (NGS) is Expected to Occupy a Significant Share over the Forecast Period

With the emergence of COVID-19 in China, authorities started developing its genome sequence, which is crucial for diagnosing and identifying possible treatments. Thus, sequencing techniques have played a crucial role during the pandemic for research scientists and industries. The effective and rapid solutions from NGS have enabled sequencing multiple samples and detecting the virus. In December 2020, a report published in European Centre for Disease Prevention and Control assessed the risk of new virus variants in Europe. Genome sequencing was used to confirm the cases of this new variant.

Similarly, a different variant was confirmed in South Africa using the WGS sequencing. In June 2020, the US FDA gave the Emergency Use Authorization for Illumina Inc. to utilize NGS-based technology, COVIDSeq, to detect COVID-19. The COVID-19 pandemic has portrayed the true potential of this technique.

North America is Expected to Dominate the Rare Disease Genetic Testing Market

The impact of COVID-19 on the United States is significant. An increasing number of people with COVID-19 were given priority over other non-emergent cases. Patients delayed or canceled their hospital visits due to fear of getting infected. Hospitals postponed appointments and switched to virtual consultations. A survey was conducted by the Rare Diseases Clinical Research Network receiving 3,400 responses, and the preliminary results give information on COVID-19 impact. According to the survey, the pandemic negatively affected rare disease patients and caregivers due to lack of access to healthcare, diet, and treatment. About 25% responded that their appointments were put on hold, and 45% switched to telemedicine. Nearly 40% of respondent’s special treatment was interrupted, and 20% sought a professional due to the stress and anxiety of the pandemic.

North America is expected to dominate the Rare Disease Genetic Testing market over the forecast period. Rare diseases are prevalent in around 30 million Americans according to Global Genes and 3.1 million Canadians according to Canadian Organization for Rare Disorders. Due to the high prevalence in America, the government has provided support for patients with rare diseases through research grants and funds. With only 5% of rare diseases having FDA-approved treatment, NIH has provided USD 31 million in grants to study rare diseases between 2019 and 2020. Similarly, in October 2020, the US FDA carried out Orphan Drug Act, awarded over USD 16 million for six clinical trial research studies to industry and academia for the next four years. In June 2018, Genome Canada announced a national initiative of sequencing 30,000 rare disease patient samples and their relatives for precision medicine implementation.

Key Topics Covered:





4.1 Market Overview

4.2 Market Drivers

4.2.1 Need for Accurate Diagnosis

4.2.2 Development in Genetic Testing Technologies

4.2.3 More Government Initiatives for Rare Diseases

4.3 Market Restraints

4.3.1 Lack of Awareness Regarding Rare Diseases

4.3.2 Limited Resources for Research

4.4 Industry Attractiveness – Porter’s Five Forces Analysis


5.1 By Technology

5.2 By Disease

5.3 By End User

5.4 By Geography



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