Global Rare Disease Genetic Testing Market - 2021-2028

Global Rare Disease Genetic Testing Market - 2021-2028

Market Overview

The Global ""Rare Disease Genetic Testing Market"" is Predicted to reach at a CAGR of 9.7% during the forecast period (2021-2028).

A rare disease type of disease affects a small proportion of the population. There are approximately 5,000 to 8,000 different rare diseases and most have a genetic origin. While there are many different rare diseases, they have many things in common including that they often cannot be prevented and have no effective treatment.

Market Dynamics

The global rare disease genetic testing market growth is driven by the increasing instances of rare disease cases across the globe, increase in awareness of treatment ,favorable reimbursement polices and increase in government funding in healthcare sectors.

Rise in number of available registries in the market will drive the market growth

The major driving factor of the market growth is the increase in the number of available registries, which allows data to be pooled to achieve a sufficient sample size for epidemiological and clinical research. In addition, technological advancements in data collection and interpretation for clinical practice have propelled the market. Companies are working to ensure efficient data collection from diverse ethnicities, which will aid in the diagnosis of thousands of patients suffering from the same condition.

Furthermore, companies such as Centogene combine genetic testing with metabolomics and proteomics to ensure the most accurate data analysis process possible. The multi-omics approach aids in better understanding the impact of a given mutation on the protein and the metabolite level. The company has also introduced a system to simplify the sample collection process, driving genetic tests for rare disease diagnoses. The fact that most of these diseases affect children adds to the process's complication.

Government-sponsored programs are also expected to have a positive impact on the market. Under the Rashtriya Arogaya Nidhi scheme, the government of India announced financial assistance of INR 15 lacs to patients suffering from uncommon ailments for a one-time treatment in February 2020. This contributes to the growth of the global rare disease genetic testing market.

Underdiagnosis of rare disease is likely to hamper the market growth

Underdiagnosis of a rare disease can often go undetected for long periods due to patients', families. The National Organization for Rare Disorders (NORD) launched a registry for rare and undiagnosed diseases in February 2020 to collect information about unidentified rare medical cases via electronic surveys. Rare diseases affect fewer people, making research and clinical trials difficult. Even with adequate funding for research activities, there is a lack of resources, such as a small patient population for data collection and a limited understanding of the disease's progression.

COVID-19 Impact Analysis

COVID-19 has a negative impact on the market for rare disease genetic testing. Because of the increase in COVID-19 cases, global healthcare services have shifted their resources toward COVID-19 care, affecting patients with rare diseases. According to the Eurordis International Survey, patients with rare diseases appeared to have a worse experience than patients with chronic diseases due to the pandemic. Sixty percent of the patients studied had their care interrupted, and eighty percent had their appointments canceled or postponed. The inability to obtain healthcare is expected to make diagnosing potentially rare diseases much more difficult. According to a study published in the Journal of Medical Genetics, blood draws for genetic testing dropped from 97.7 percent to 94.1 percent during the pre-virtual and virtual care periods.

It also took longer for patients to provide blood samples at Canada's Cancer Center. Companies and other non-healthcare businesses were forced to close as a result of the pandemic. Patients with rare diseases are underdiagnosed as a result of a lack of healthcare services and appointments that are cancelled or postponed, which may have an impact on the market.

Segment Analysis

The NGS segment is expected to grow at the fastest CAGR during the forecast period (2021-2028)

Next Generating Sequencing (NGS) accounted for largest market share in the rare illness genetic testing market. This is due to the widespread use of the Whole Exome Sequencing (WES) genetic testing method. This method only targets exons, which account for 1-2 percent of the entire genome and contain 80 percent of all disease-causing mutations. Continuous technology advancements and AI integration into sequencing are expected to produce accurate and timely results. Invitae increased its service in December 2020 by introducing routine exercise every six months for three years, which would regularly update patient information. Furthermore, as the cost of exome sequencing falls, the overall cost of genetic testing may fall, making it more affordable.

Governments worldwide are increasingly involved in developing genome programs, such as the 100,000 Genomes Project in the United Kingdom, which aims to improve care for people with rare diseases, and the All of Us initiative in the United States, which aims to improve precision medicine. In January 2020, India's Department of Biotechnology launched the Genome India Effort (GIP), a Whole Genome Sequencing project that will collect 10,000 genetic samples to create a reference genome. As a result, expanding the use of NGS's potential in various parts of healthcare is predicted to contribute to its large share.

Geographical Analysis

North America region holds the largest market share of global rare disease genetic testing market

North America account for the majority of share in the global rare disease genetic testing market. According to Global Genes, rare diseases affect roughly 30 million Americans and 3.1 million Canadians, according to the Canadian Organization for Rare Disorders. Because of the high frequency in the United States, the government has granted research grants and cash to patients with uncommon diseases. With only 5% of rare diseases having FDA-approved treatments, the National Institutes of Health (NIH) has allocated USD 31 million in grants to research rare diseases between 2019 and 2020. Similarly, the US FDA implemented the Orphan Drug Act in October 2020, awarding approximately USD 16 million to industry and academics for six clinical trial research studies over the next four years.

In 2020, orphan medications used to treat rare disorders accounted for 58 percent of all innovative drugs approved by the Center for Drug Evaluation and Research (CDER). HDL Therapeutics Inc. also received Humanitarian Device Exemptions in 2020 for its Plasma Dilapidation System, which treats the rare genetic disease Homozygous Familial Hypercholesterolemia. Along with expanding incidence and approvals, North America's supportive healthcare infrastructure, government initiatives, and technology improvements will likely take a significant portion of the market.

Competitive Landscape

The rare disease genetic testing market is highly competitive with presence of local as well as global companies. Some of the key players which are contributing to the growth of the market include Quest Diagnostics Inc, Centogen N.V.,Invital Corporation, 3 billion Inc ,Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Ebmer Inc, Macrogen Inc, Baylor Genetics, Color Genomics ,Inc , Health Network Laboratories, Preventiongenetics, Progenity ,Inc, Co opersurgical ,Inc, Fulgent Genetics Inc, Myriad Genetics , Inc , Laboratory Coorporation of America Holdings.

The major players are adopting several growth strategies such as product launches, acquisitions, and collaborations, which are contributing to the growth of the rare disease genetic testing market globally. For instance in 2018, EURORDIS, Microsoft, and Takeda collaborated to launch the Global Commission to End Diagnostic Odyssey for Children with 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 over their health records. The UK Rare Disease Framework was launched in January 2021 to provide 3.5 million rare disease patients with faster diagnosis, awareness, care, and access to treatment over five years. The introduction of new technologies, such as NGS-based genetic testing, and increased demand for diagnosis and government initiatives, may all contribute to the expansion of the rare disease genetic testing market. For instance,

In April 2021, Centogene and Takeda Pharmaceutical Company Limited have established a collaboration to identify patients using Centogene's genetic testing capabilities. The contract was renewed until March 2022.

In January 2020, Blueprint Genetics, a leading genetic testing company, was acquired by Quest Diagnostics. This acquisition may help its genetics portfolio by adding value to its core technologies.

CENTOGENE

Overview: CENTOGENE is an international biotechnology and knowledge-generating enterprise with a global network focused on integrating clinical, genetic, and biochemical data into medical solutions for patients with rare diseases.

Product Portfolio:

CENTOGENE’s Cento Cloud: The CentoCloud solution is a cloud-based Software as a Service (SaaS) platform that allows laboratories all over the world to analyse, interpret, and report genomic variations while also allowing them to take advantage of unique reagent kits. In conjunction with Twist Bioscience, CENTOGENE is developing diagnostics for uncommon diseases..

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Target Audience

Service Providers/ Buyers

Industry Investors/Investment Bankers

Education & Research Institutes

Research Professionals

Emerging Companies

Manufacturers

Market Segmentation

Global Rare disease genetic testing market– By Type

Neurological Disorders

Endocrine

Metabolism Diseases

Hematology Diseases

Immunological Disorders

Musculoskeletal Disorders

Other

Global Rare disease genetic testing market- By Technology

Next-Generation Sequencing

FISH

Array Technology

PCR- based Testing

Karyotyping

Sanger Sequencing

Others

Global Rare disease genetic testing market– By Specialty

Molecular Genetic Tests

Chromosomal Genetic Tests

Biochemical Genetic Tests

Global Rare disease genetic testing market– By End User

Hospitals

Diagnostic Laboratories

Research Laboratories

CROs

Others

Global Rare disease genetic testing market- By Region

North America

Europe

Asia-Pacific

Middle East & Africa

South America