Severe Combined Immunodeficiency (SCID) Diagnosis Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2020-2030F

Global Severe Combined Immunodeficiency (SCID) Diagnosis Market was valued at USD 182.60 million in 2024 and is anticipated to witness an impressive growth in the forecast period with a CAGR of 9.20% through 2030. Severe Combined Immunodeficiency (SCID) is a rare and severe genetic disorder that affects the immune system, leaving individuals highly susceptible to infections. SCID is often referred to as the bubble boy disease, as individuals with this condition used to live in sterile environments to avoid exposure to pathogens. SCID results in a profound deficiency in both cellular and humoral immunity.

This means that affected individuals have severely impaired T cell function (cellular immunity) and often lack functional B cells, which are responsible for producing antibodies (humoral immunity). Due to the absence or dysfunction of critical immune cells, individuals with SCID are extremely vulnerable to a wide range of infections, including bacterial, viral, fungal, and parasitic infections. These infections can be recurrent, severe, and life-threatening. Symptoms of SCID often appear in the first few months of life, as maternal antibodies wane. Infants with SCID may experience persistent, severe infections that do not respond well to treatment.

Key Market Drivers

Rising Incidence of SCID

Efforts to increase awareness and education among healthcare professionals and the public have led to more cases of SCID being identified and diagnosed. For instance, When federal health officials added severe combined immunodeficiency (SCID) to the Recommended Uniform Screening Panel (RUSP), a national guideline for newborn screening (NBS), in 2010, it remained unclear to what degree NBS would improve outcomes for babies diagnosed with SCID. Thirteen years later, a paper by the Primary Immune Deficiency Treatment Consortium (PIDTC) reveals that SCID identified through NBS increases overall survival for babies born with the condition.

Babies with SCID lack a functioning immune system, making them vulnerable to fatal infections unless they are treated in infancy with a bone marrow transplant (BMT), also known as hematopoietic stem cell transplantation (HSCT), or clinical trial gene therapy. The new study from PIDTC is a retrospective analysis examining how various factors affected the survival of patients diagnosed with SCID across almost four decades.

The paper focuses in particular on how the institution of population-based NBS impacted survival. In a study of 902 patients treated with BMT at 34 PIDTC centers, researchers examined data from several time periods beginning in 1982. They found that for the first three time periods, covering 28 years total, the five-year survival rate of SCID patients treated with BMT hovered at 72-73%. However, in the period from 2010-2018, corresponding to when states instituted NBS for SCID, five-year survival rose to 87%.

Key Market Challenges

Genetic Heterogeneity

SCID is not a single disorder but a group of rare genetic conditions, each caused by specific mutations in different genes. These mutations can affect various aspects of immune system development and function. As a result, there is a wide range of genetic mutations associated with SCID. Due to genetic heterogeneity, SCID is classified into multiple subtypes, each with distinct genetic causes. Common SCID subtypes include X-linked SCID, ADA-SCID, IL7R-SCID, and more. Accurate diagnosis requires identifying the specific genetic mutation responsible for the individual's condition. Diagnosing SCID involves a complex diagnostic process that includes clinical evaluation, immunological assays, and genetic testing.

Genetic testing is often required to confirm the diagnosis and subtype, but selecting the appropriate genetic tests can be challenging due to the diversity of SCID-related genes. New, previously unidentified genetic mutations associated with SCID continue to be discovered through research. Identifying novel mutations adds complexity to diagnostic testing, as genetic tests must be updated to include these new variants. Some genetic tests for SCID may not cover the full spectrum of known SCID-related genes or mutations.

This can result in a diagnostic gap, as certain mutations may be missed in standard testing panels. Genetic heterogeneity can lead to variability in the clinical presentation and severity of SCID. Two individuals with the same genetic subtype of SCID may exhibit different symptoms and clinical courses. This variability can complicate diagnosis and treatment planning. Genetic counseling is essential for families affected by SCID. The presence of various genetic mutations and subtypes can make genetic counseling complex, requiring a comprehensive understanding of the genetic basis of the condition.

Key Market Trends

Patient Advocacy and Awareness

Patient advocacy groups and organizations dedicated to SCID, such as the Immune Deficiency Foundation (IDF) and the SCID Angels for Life Foundation, play a crucial role in advocating for individuals and families affected by SCID. They provide support, resources, and a platform for raising awareness. Patient advocacy groups often work with policymakers to advocate for improved access to diagnostic testing, treatment, and research funding for SCID. They play a role in shaping healthcare policies related to rare diseases like SCID. Patient advocacy efforts can lead to increased research funding for SCID, driving advancements in diagnostic methods, treatments, and the understanding of the condition.

Advocacy efforts have contributed to the inclusion of SCID in newborn screening programs in several regions. This has dramatically increased awareness about the importance of early diagnosis. Awareness campaigns target healthcare providers, including pediatricians and neonatologists, to ensure they recognize the signs and symptoms of SCID and refer infants for diagnostic testing.

Public awareness campaigns, often initiated by patient advocacy groups, aim to educate the general population about SCID. These campaigns may include social media outreach, educational materials, and community events. Events like the International SCID Awareness Day, held on October 15th each year, help raise global awareness about the condition. It is an opportunity for patients, families, healthcare providers, and advocates to come together to educate the public. SCID cases that receive media coverage, such as documentaries or news stories, can significantly increase awareness and prompt individuals to seek diagnostic testing if they suspect SCID in their families.

Key Market Players

• ARCHIMED SAS
• PerkinElmer LAS Inc
• Health Research, Inc
• Winfertility Inc.
• Portea Medical
• LaCAR MDX Technologies
• Labsystems Diagnostics Oy
• Devyser Diagnostics
• Revcovi
• Leadiant Biosciences Inc.

Report Scope:

In this report, the Global Severe Combined Immunodeficiency (SCID) Diagnosis Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Severe Combined Immunodeficiency (SCID) Diagnosis Market, By Disease Type:

• X-linked SCID
• ADA-SCID
• others

Severe Combined Immunodeficiency (SCID) Diagnosis Market, By Test Type:

• TREC
• Complete blood count (CBC)
• Genetic Test
• Biochemical Test
• Others

Severe Combined Immunodeficiency (SCID) Diagnosis Market, By End-User:

• Hospitals
• Diagnostic and Research Laboratories
• Others

Severe Combined Immunodeficiency (SCID) Diagnosis Market, By region:

• North America
• United States
• Canada
• Mexico
• Asia-Pacific
• China
• India
• South Korea
• Australia
• Japan
• Europe
• Germany
• France
• United Kingdom
• Spain
• Italy
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Severe Combined Immunodeficiency (SCID) Diagnosis Market.

Available Customizations:

With the given market data, the publisher offers customizations according to a company's specific needs. The following customization options are available for the report.

Company Information

• Detailed analysis and profiling of additional market players (up to five).

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