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Is Optical Genome Mapping Emerging As An Alternative To Traditional Cytogenetic Techniques?

Healthcare | Jul, 2023

According to National Cancer Institute, nearly 10% of all cancers are caused by inherited genetic changes. Even chronic disorders like type 1 and type 2 diabetes and obesity are also linked to genetics to some extent. Modifying lifestyle along with accumulation of harmful mutations increase the risk of genetic disorders. Rising incidences of non-communicable disorders and rising awareness among the populations related to prenatal testing have led to enhanced focus on preventive healthcare and demand for cytogenetic techniques. Cytogenetics supports the discovery and evaluation of diseases associated with the chromosome structure and behavior. Moreover, advances in medical technology are gradually replacing the conventional symptom-driven treatment process with early risk prediction of diseases through improved diagnostic tools.

Optical genome mapping (OGM), a cutting-edge technology, developed for the identification of structural variants is facilitating comprehensive identification and treatment. The technology is capable of detecting structural variants that cannot be detected by other current methods such as karyotyping, FISH and chromosomal microarray (CMA) as they lack the digital resolution and efficiency to solve SVs at a scale. Recently, researchers from Children’s Hospital of Pennsylvania (CHOP) used genome mapping approach to identify therapeutic targets for lupus, recognizing genes and pathways that play a larger role in immune responses related to lupus. Lupus is an autoimmune disorder with no cure known yet, and the condition affects children and adults. However, the method could be used to better understand the autoimmune condition.

Companies such as OpGen, Bionano Genomics, NABsys are extensively investing for advances in optical genome mapping and extend its application for classifying all kinds of chromosomal aberrations. Recently, Bionano Genomics partnered with NVIDIA to develop a platform for use in Bionano’s optical genome mapping workflow to improve data processing speed while reducing time. NVIDIA plans to accelerate OGM analysis into areas including CAR T-cell therapy research and bioprocessing. This will help to achieve high throughput in small footprint at lower cost, which put have a huge impact on cancer research and other areas of human health.

Optical Genome Mapping for Predicting Cancer Risks

Providing overall view of major variations in an individual's chromosomes such as 180-degree flipping of sequencing, big insertions or deletions, optical genome mapping can help find genetic predisposition to cancer. For instance, blood cancers resulting from chromosomal rearrangements can be predicted via visualizing the structure of DNA molecules. Older techniques such as karyotyping produces photographs of stained chromosomes in a sample, which require specialized training and experience to detect any abnormalities in structural variants. The goal of karyotype test is identifying unusually shaped or abnormally long chromosomes that must undergo interpretation, which is somewhat subjective. FISH, another technique for detecting structural variants uses a fluorescent microarray to detect varying copies of gene, but it might miss some types of variations or a copy of variant assay. On the other hand, optical genome mapping can additionally identify more complex chromosomes that other tests might miss. Hence, a potential shift towards optical genome mapping as a primary diagnostic tool can help detect the previously undetectable abnormalities that can drive clinical care decisions. Moreover, karyotyping technique relies on the equipment available at a given medical center whereas optical genome mapping relies on standard molecular visualization tools that could be set up with relative ease.

According to TechSci Research report on “Direct-To-Consumer (DTC) Genetic Testing Market - Global Industry Size, Share, Trends, Competition, Opportunities, and Forecast, 2017-2027 Segmented By Test Type (Ancestry & Relationship Testing, Predictive Testing, Nutrigenomic Testing, Carrier Testing, Skincare Testing, Others), By Technology (Single Nucleotide Polymorphism (SNP) chips, Targeted Analysis, Whole Genome Sequencing (WGS), Others), By Sample (Saliva, Urine, Blood, Others), By Distribution Channel (Online and Offline), By Region”, the global Direct-to-Consumer genetic testing market is predicted to grow at a formidable rate during the forecast period. The market growth can be attributed to the rising prevalence of rare genetic diseases and growing demand for personalized genetic services. Additionally, rising public awareness around the world and increasing research and development initiatives are also fueling the market growth.

Optical Genomic Mapping for Precision Chemotherapy

A vast majority of people diagnosed with cancer first diagnosed with cancer are treated with chemotherapy. During chemotherapy, potent toxins are injected into the body to kill tumor cells by damaging DNA in rapidly dividing cells. However, these toxins can significantly harm the stomach lining, hair and nail follicles, as well as immune system. Also, cancer agents can develop susceptibility to these toxins and develop resistance to drugs. Although hundreds of chemotherapy agents exists, oncologists have very little information pertaining to which of the drugs would be best suitable for a given patients. Most of the decisions are based on the drugs’ average historical success rate rather than an understand of how that drug would interact with the genetic makeup of the specific tumor. Techniques drawn from computational biology leveraging optical genome mapping can make it easier for physicians to use the genetic profile of a patient’s tumor to customize chemotherapy treatment. This not only lead to less side effects but also increases the chance of success.

Rising Emphasis on Precision Medicine to Boost Optical Genome Mapping Market Growth

Precision combined with personalized medicine are useful instruments to investigate the pathological processes that can help physicians choose targeted therapy to manage patients. Advances in genomics leading to the emergence of advanced biotechnologies such as optical genome mapping are improving the knowledge of genetic variations of human genomes, helping understand the complex biological networks associated with diabetes, Parkinson’s diseases, inflammatory bowel diseases, cardiovascular and neurological disorders. An individual’s genome profile is key component of precision medicine as it can be used to customize diagnosis and predict therapy and patient responsiveness to it.

A growing number of targeted therapies, accurate sequencing, and its growing recognition in oncology and rheumatic illnesses are already boosting the growth of precision medicine market. In this era of bioinformatics, the growing repository of personalized data at the molecular level can position molecular diagnostics companies and pharmaceutical firms to unlock value.

Way Ahead

By 2025, between 100 million and 2 billion human genomes will have been sequenced, owing to increasing access to testing and growth of pharmacogenomics and nutrigenomics. New startups, ventures, and innovative solutions are emerging day by day with a new generation of targeted intervention based on genomic analysis. The ultimate goal of optical genome mapping is preventive, personalized, and preemptive medicine, which could drastically reduce the growing incidences of chronic disorders and reduce overall healthcare costs.

According to TechSci Research report on “Genomics Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2017-2027 Segmented By Products & Services (Systems & Software, Consumables, Service), By Technology (Sequencing, PCR, Nucleic Acid Extraction and Purification, Microarray, Others), By Application (Drug Discovery & Development, Diagnostics, Agriculture & Animal Research, Others), By End User (Hospitals & Clinics, Academic & Research Institutions, Biotechnology & Pharmaceutical Companies, Others), By Company, and By Region”, the global genomics market is predicted to grow at a formidable rate during the forecast period. The market growth can be attributed to the rising demand for precision medicines and advancements in diagnostic techniques.  

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