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December 2024
The global molecular cytogenetics market size is calculated at USD 2.51 billion in 2024, grew to USD 2.78 billion in 2025, and is projected to reach around USD 6.9 billion by 2034. The market is expanding at a CAGR of 10.64% between 2024 and 2034. Rising incidences of cancer, growing molecular biology and genomics research, and technological advancements drive the market.
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Molecular cytogenetics is a technique for analyzing the chromosomal structure to help distinguish normal and cancer cells. Hence, it can be used to diagnose and treat various malignancies, such as hematological, brain, and other tumors. The study of chromosomal evolution at molecular resolution gives a deeper understanding of all cell cycle stages. It consists of a collection of methods examining genomic structural and behavioral changes at the chromosomal and subchromosomal level using the full genome or particular DNA sequences. The different techniques used include karyotyping, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), and array comparative genomic hybridization (aCGH).
The rising incidences of different cancer types increase the demand for molecular cytogenetics. It is also used to detect several congenital syndromes and neurological disorders. Hence, the increasing incidences and prevalence of such disorders augment the market. The market is also driven by the growing research and development activities related to molecular biology and genomics. Several government and private organizations provide funding and investments for R&D activities, which boosts market growth. Additionally, the growing demand for personalized medicine promotes the market.
Artificial intelligence (AI) has proved to be useful for decades in several aspects of the medicine and healthcare sectors. Integrating AI in molecular cytogenetics enhances diagnostic ability by refining predictive capabilities, enhancing accuracy, expediting processes, and boosting overall efficiency. More advanced AI tools are investigated and tested to implement these cutting-edge tools in molecular diagnostics. AI can aid in analyzing chromosomal abnormalities and improving precision. AI introduces automation in molecular cytogenetic techniques such as karyotyping and FISH. Deep neural networks (DNN) can automate the entire karyotyping process, and AI can help in accurate chromosome placement. Moreover, AI can ensure that patients receive timely and accurate information for effective medical intervention, ultimately improving the standard of care. Thus, the future of molecular cytogenetics with AI looks promising and full of potential.
Increasing Incidences of Cancer
Cancer is the leading cause of death worldwide. The increasing incidences and prevalence of cancer pose a major risk, necessitating early diagnosis and treatment. In 2022, there were approximately 20 million new cancer cases and 9.7 million cancer-related deaths globally. The WHO predicts that more than 35 million new cancer cases are predicted in 2050, a 77% increase from 2022. The rapidly expanding population, sedentary lifestyles, environmental factors, and genetic predispositions are some of the major causes of cancer. Researchers are constantly investigating novel methods for cancer diagnosis and simultaneously evolving traditional methods to improve outcomes. Government organizations have released several guidelines and initiatives to reduce cancer cases.
Development of Novel Molecular Biology Methods and High Cost
The major challenge of the molecular cytogenetics market is the development of novel molecular biology methods. Novel molecular biology methods such as next-generation sequencing (NGS) and RNA-seq replace molecular cytogenetic techniques. The novel techniques restrict the use of cytogenetics due to inconclusive results. Another major challenge is the high cost of cytogenetic testing. The average cost of cytogenetic testing range from $100 to $2000, limiting the affordability of several organizations, especially in the low- and middle-income countries.
Growing Demand for Personalized Medicines
Personalized medicine is an emerging field that uses an individual’s genetic makeup to tailor medical decisions and interventions for individuals. Molecular cytogenetics aids in the effective diagnosis and prognosis of cancer through chromosomal alterations. Hence, personalized medicines can be developed from the results of cytogenetics. The growing demand for personalized medicines favors market growth. The demand for personalized medicines is rising due to more efficient and equitable healthcare, access to modern healthcare methods, improved patient outcomes, and economic development in the healthcare sector. Several government organizations support personalized medicine research and development through initiatives and funding. Technological advancements simplify the genetic testing process and predict tailored therapies according to individual needs. Hence, the demand for personalized medicines in the future will strengthen owing to digital technologies and increasing investments and collaborations.
By application, the oncology segment dominated the molecular cytogenetics market in 2023. Molecular cytogenetics is a common method used for detecting various types of cancer. The chromosomal alterations found in cancer cells include gene fusions, gross chromosomal rearrangements, and copy number variants. Cytogenetic analysis helps in assessing these chromosomal aberrations of cancer. Hence, cytogenetics helps healthcare professionals make effective decisions. The rising incidences of cancer and technological advancements boost the segment’s growth.
By application, the personalized medicine segment is expected to grow at the fastest rate in the market during the forecast period. The growing demand for personalized medicine is estimated to propel the segment’s growth. Molecular cytogenetics serves as a useful reference for physicians hoping to better understand the role of molecular medicine in clinical practice. The results suggest healthcare professionals customize treatment regimens based on the patient’s conditions.
By technology, the comparative genomic hybridization segment held a dominant presence in the molecular cytogenetics market in 2023. Comparative genomic hybridization (CGH) is a technique to detect chromosomal copy number changes without the need for cell culturing. CGH is widely used in cancer research and determines the genomic abnormalities in cancer. The limitation of conventional CGH can be overcome by the advent of array CGH due to enhanced resolution. The major advantage of this technique is that it can detect copy number variations as small as several hundred bases. It can also provide wider coverage of the genome and higher throughput.
By product, the consumables segment led the global molecular cytogenetics market in 2023. Molecular cytogenetics consumables include reagents, culture media products, and kits. These consumables are essential as they get used up quickly. The availability of consumables by several companies and their affordability promote the segment’s growth.
By product, the services segment is anticipated to grow with the highest CAGR in the market during the studied years. Several organizations provide molecular cytogenetics services to help researchers in their complex research process. This ultimately saves time for researchers and eliminates the buying of expensive instruments for performing cytogenetic analysis. The generation of large amounts of datasets potentiates the need for cytogenetics services.
By end-use, the clinical & research laboratories segment registered its dominance over the global molecular cytogenetics market in 2023. The growing research and development activities, rising incidences of chronic disorders, and increasing investments favor the segment’s growth. Chronic disorders can be diagnosed in clinical & research laboratories. The increasing number of clinical & research laboratories owing to increasing awareness and the latest advancements promote the segment’s growth. As of 2023, there are 16,365 diagnostic and medical laboratories in the US.
By end-use, the pharmaceutical & biotech companies segment is projected to expand rapidly in the market in the coming years. The segment’s growth is attributed to the presence of trained professionals, favorable infrastructure, and suitable capital investments. The increasing number of pharmaceutical & biotech companies and growing molecular biology and genomics research potentiate the segment’s growth.
North America held the largest share of the molecular cytogenetics market share by 48% in 2023. The rising incidences of chronic disorders, technological advancements, advanced healthcare infrastructure, and state-of-the-art research and development facilities drive the market. In the US, the National Human Genome Research Institute (NHGRI) by the National Institute of Health supports research related to molecular cytogenetics and provides funding. The projected funding from NHGRI in the fiscal year 2024 President’s Budget is around $660 million. The growing molecular biology and genomics research in North America promotes market growth. The Canadian Government invested over $5.6 million to help early-stage genomics companies bring new products to the market. The increasing demand for genetic testing in the region also boosts the market. As of November 2022, about 129,624 genetic tests were performed in the US alone out of the total 197,779 genetic tests globally.
Asia-Pacific is estimated to show the fastest growth in the molecular cytogenetics market over the forecast period. The rising geriatric population, increasing incidences of cancer, growing research and development, and increasing investments & collaborations drive the market. China is the only country in the world that has the highest number of new cancer cases and reported deaths. China reported around 4.8 million new cancer cases in 2022. According to the Foundation for Research on Rare Diseases and Disorders, it is estimated that around 70 million people in India are affected by rare genetic diseases. The rising geriatric population in the Asia-Pacific region is a major concern. Nearly 30% of the Japanese population is 65 years or older. The increasing number of diagnostic labs also augments market growth. There are a total of 2262 medical testing laboratories in India.
Prof. Hara Prasad Pati, Honorary Founder of the Hematology Research Foundation, was a guest speaker at the Continued Medical Education (CME) program on the subject “Molecular Hematology – The Future We Are Living In.” He said that advanced molecular tests such as PCR, FISH, cytogenetics, Sanger sequencing, and NGS have a direct impact on cancer diagnosis and prognosis. He also added that these techniques guide treatment decisions in the current era of personalized medicine.
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