The global rare disease genetic testing market was valued at USD 807.1 million in 2019 and is expected to grow at a CAGR of 10.6% during the forecast period. The increasing prevalence of rare diseases, awareness among patients, and misdiagnosis due to available methods of detection are the important key drivers for the market. Misdiagnosis results in interventions and false treatments, which could be lethal for the concerned disorder. Accurate and timely diagnosis of uncommon diseases paves for the need for genetic testing.
According to the market statistics published by the organization dedicated to rare diseases, worldwide, there are more than 300 million people are suffering from around 6,000 identified forms of rare disorders. The prevalence rate of unique disease is hovering around 3.5-5.9% of the global population base driving the testing. Definition of rare disease changes from country to country, for example, the US., Europe, Canada, Japan, South Korea, South Korea, and Taiwan classified concerned disease/disorder as uncommon if it affects 6 to 1 per ten thousand of the population in the respective countries.
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The rare disease not only impacts the lives of few people, scattered across the globe but still the number of people impacted directly, accounted, equivalent to the world’s third populous country. Over 72 percent of the rare diseases are of genetic origin, while others, borne as a result of bacterial and viral infections, environmental factors, allergies, or degeneration of the genetic constitution of the individual. 70 percent of the genetic disorders start with the onset of childhood. This is expected to drive the testing across the globe.
The shortening of the path to diagnosing rare disorders using infant screening and the available digital technologies is expected to be a prominent driver, shaping the future of the rare disease genetic testing market. There are more than 7000 rare diseases (RDs), with 30 million alone in Europe and around 250 million patients in the whole world. It is being estimated that less than ten percent of RD patients undergo treatment and only one percent are managed with approved therapies in Europe. Delivering impactful cost-effective treatment to RD patients is the global unmet medical necessity and requires a strategic approach to cater to challenges faced by the research and development community. The major hurdles are namely, delayed diagnosis, lack of research and development, and poor access or availability of reimbursements for the concerning treatments.
Delay in diagnosis results in un-necessary healthcare cost burden on the patients, that too, mostly out-of-pocket expenses with the situation being worse in low-income countries. To cater to this unmet medical need, on Feb 28, 2020, the U.S.-based Prognos Health, an artificial intelligence platform is driven firm focused on predicting illness progress trajectory in the patient journey announced the establishment of Rare Disease Institute (RDI). RDI is the collative effort of companies, organizations, and academic institutes, it includes Blueprint Genetics, Datavant, The United Leukodystrophy Foundation, Medical College of Wisconsin Genomic Sciences & Precision Medicine Center, PWNHealth, The Cure GM1 Foundation, and Antidote Technologies. The aim of the stakeholders is dedicated towards decreasing diagnosis timeline, improvements in testing, un-necessary incurred treatment costs.
There are more than thirty million people in the U.S alone suffer from rare disorder, with patients being often misdiagnosed, sometimes long diagnosis timeline causes costly healthcare odyssey. RDI will leverage AI, ML, and NLP algorithms across huge datasets in the form of medical claims, genetic codes, WES data, and electronic health records to enable pharmaceutical companies to take informed critical decisions across drug commercialization, clinical trial planning, and drug development and discovery procedures. Thus, with such dedicated approach towards genetic testing of rare illnesses, expected to be fruitful in the forthcoming years.
The market is primarily segmented on the basis of disease type, technology, specialty, end use, and geographic region.
By Disease Type
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In 2019, the neurologic disorder market segment held the majority share in the global market. This high revenue share is due to the high prevalence of rare ailments in the neurology therapy market, and the currently available genetic testing for neurologic conditions. Available therapies are recommended by reputed institutions such as Child Neurology Society, the American Academy of Neurology, and the American College of Medical Genetics.
Moreover, the introduction of high-performance screening techniques such as exome and whole-genome sequencing, by the key players in the market, for testing for the genetic disorders, such as X-linked adreno-leukodystrophy (X-ALD), Prader-Willi syndrome (PWS), Niemann-Pick Type C (NPC), Neuro-fibromatosis 1 (NF1), Infantile neuroaxonal dystrophy (INAD), Kennedy’s disease (KD), and transthyretin amyloidosis polyneuropathy. Furthermore, immunological disorders such as multiple sclerosis (MS) are the most prevalent rare genetic disorders. In the case of MS, the key focus area for drug research is to decipher the genetic constitution of the diseased individual, at an early stage of its life. Insights obtained are useful in understanding the physiology of disorder.
Based on the technology, the global market is bifurcated as next generation sequencing, array technology, PCR-based testing, FISH, sanger sequencing, and karyotyping. In 2019, the next-generation sequencing market segment accounted for the largest share, owing to the extensive use of whole-exome sequencing techniques. WES is considered to be the gold standard among sequencing techniques and widely used since exons constitute 1.5 percent of the human genome and are responsible for over 85 percent of the genomic mutations.
Moreover, with the decline in WES cost structure in the market, the operating cost of genomic engineering is bound to reduce significantly, to make WES more affordable and accessible to varied clients. Insurance health coverage to cover the cost of genetic testing by private insurance agencies also favoring the segment’s growth. WES cost is bound to decline, with the increase in players/vendors offering WES services, for instance, Rady’s Children Institute (RCI), offers single and trio rapid WES sequencing at a reasonable cost. Dante Labs, in February 2020, introduced WES services to patients suffering from rare illnesses at the cost of USD 299. It included sequencing with Novaseq6000 technology, personalized therapy, and data interpretation services.
The global market is bifurcated into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa (MEA). North American market is the largest revenue contributor followed by Europe and the Asia Pacific region. In 2019, the North American region accounted for a significant share of the global market.
Regional factors contributing to the region’s market growth include the awareness among patients about the ill effects of rare diseases, high incidence of rare disorders, and availability of research and development infrastructure with proper funding and investments. According to the estimates of the National Institutes of Health (NIH), more than 30 million people in the U.S. are suffering from around 7,000+ rare disorders. With the increase in the number of patients undergoing genome testing, rising income levels, is bound to support regional market growth.
Asia Pacific market is expected to be the fastest-growing region over the study period, owing to rising patient awareness, and the presence of a huge target population in the two highly populated countries India and China. The Chinese government has included a rare disease diagnosis as a health priority in its “Healthy China 2030” plan. Moreover, it also released a list of rare illnesses prevalent in the country, to aware patients of the ill effects of the illness. However, lack of reliable patient registries, inaccurate epidemiology data, and clinical barriers acts as an inhibitor in the low-income South Asian economies.
Indians are more prone to rare disorders owing to the practice of marrying within their community. As per the estimates of the Health and Family Welfare Ministry, India has over 8 crore people suffering from a rare disorder with around 5000, being of genomic origin. The cost of treatment in India is exorbitant, out of reach for the majority of the population, annual cost lies in between INR 40 lakh to 1.6 crores.
The prominent players operating in the market are Strand Life Sciences, Myriad Genetics, Quest Diagnostics Inc., Centogene N.V., Invitae Corporation, 3billion, Inc., Eurofins Scientific, Baylor Genetics, Ambry Genetics, Perkin Elmer, Macrogen, Inc., Opko Health, Inc., Color Genomics, Inc., Health Network Laboratories, Preventiongenetics, Progenity, Inc., Fulgent Genetics Inc., and Laboratory Corporation of America Holdings.