Rare Disease Genetic Testing Market - Growth, Trends, COVID-19 Impact, and Forecasts (2022 - 2027)

Market Overview

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

The impact of the COVID-19 pandemic on the rare disease genetic testing market is significant. The rise in COVID-19 cases has led to global healthcare services shifting 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 the patients studied had experienced interrupted care, and 80% canceled or postponed their appointments. The inability to access healthcare 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. The time taken for patients to give their blood samples in Canada’s Cancer Center was also longer. The pandemic led to the shutdown of companies and other non-healthcare businesses. The lack of healthcare services and canceled/postponed appointments result in the underdiagnosis of rare disease patients, which may impact the market.

According to Global Genes, 400 million people worldwide are affected by rare diseases, of whom 30 million are Americans. There are a total of 7,000 rare diseases identified, and only 5% of them have FDA-approved treatment. The need for timely and accurate diagnosis is one of the key factors that may drive the market. A national cross-sectional survey published in the Orphanet Journal of Rare Diseases, which included 2040 rare disease patients in China, concluded that patients who have difficulty accessing disease-related information are four to five times more likely to get misdiagnosed. In 2018, EURORDIS, Microsoft, and Takeda came together to launch the Global Commission to End Diagnostic Odyssey for Children with a Rare Diseases, which includes a Machine Learning and Blockchain-supported patient registry to find patterns and symptoms of rare diseases, raise awareness among the public and physicians, and give patients and their families control of their health records. In January 2021, the UK Rare Disease Framework was launched, which focuses on faster diagnosis, awareness, care, and access to treatment for 3.5 million rare disease patients over five years. The launch of new technologies, such as NGS-based genetic testing, and the increased demand for diagnosis and government initiatives may contribute to the growth of the rare disease genetic testing market.

The underdiagnosis of a rare disease may often happen for extended periods due to the limited awareness of patients, families, and physicians. In April 2021, a survey was conducted in China involving 224 physicians, of whom only 5.3% were moderately well-aware of rare diseases. In February 2020, the National Organization for Rare Disorders (NORD) launched a registry for rare and undiagnosed diseases, to collect information regarding unidentified rare medical cases through electronic surveys. Rare diseases affect very few people, which makes research or clinical studies difficult. Even with sufficient funding for research activities, there exists a lack of resources, such as the low patient population for data collection and the limited understanding of the progression of the disease. Furthermore, most of these diseases affect children, which adds to the complexity of the process. The lack of awareness of diagnosis and the challenges associated with clinical studies are likely to inhibit the market growth.

Scope of the Report

According to the European Legislation, a rare disease is defined as having a prevalence threshold of not more than 5 affected persons per 10,000. Most rare diseases are genetic disorders, and genetic testing is an advanced diagnostic tool that gives results within weeks. Additionally, genetic testing has made the diagnosis of genes responsible for rare diseases more possible. The rare disease genetic testing market is segmented by technology (next-generation sequencing, array technology, PCR-based testing, FISH, and other technologies), disease (neurological disorders, immunological disorders, hematology diseases, endocrine and metabolism diseases, cancer, musculoskeletal disorders, and other diseases), end user (clinics/hospitals, diagnostic laboratories, and other end users), and geography (North America, Europe, Asia-Pacific, and rest of the world). The report offers the value (in USD million) for the above segments.

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Key Market Trends

Next-Generation Sequencing (NGS) Expected to Occupy a Significant Market Share

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 in the work of research scientists and industries during the pandemic. The effective and rapid solutions from NGS have enabled the sequencing of multiple samples and detecting the virus. In December 2020, a report published by the 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 Whole Genome Sequencing (WGS). In June 2020, the US FDA gave the Emergency Use Authorization for Illumina Inc. to utilize its NGS-based technology, COVIDSeq, to detect COVID-19. The COVID-19 pandemic has indicated the true potential of this technique.

NGS may occupy a significant share of the rare disease genetic testing market over the forecast period (2021 - 2026). This is due to the high adoption of the Whole Exome Sequencing (WES) genetic testing tool. This technique targets only exons, which make 1-2% of the whole genome and contain 80% of all disease-causing mutations. Such continuous technological developments and AI incorporation within sequencing are expected to provide accurate and rapid results. In December 2020, Invitae expanded its services by updating patients' reports regularly through the introduction of Routine Exome Reanalysis every six months for three years. Additionally, with the declining costs of exome sequencing, the overall costs of genetic testing may decrease, making it affordable.

Governments worldwide are increasingly getting involved in developing genome programs. One of them is the 100,000 Genomes Project in the United Kingdom, initiated to improve care for rare disease individuals, and the All of Us initiative for precision medicine in the United States. In January 2020, the Department of Biotechnology in India initiated a WGS project, called the Genome India Project (GIP), to collect 10,000 genetic samples to build a reference genome. Thus, the increasing application of NGS’s potential within different healthcare aspects is expected to contribute majorly to the growth of the market.

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