In April 2003, the 20,000 genes of the human body were finally completely sequenced by the Human Genome Project. This breakthrough, one of the most significant of all time in biological science, opened the door to genomics, the study of genes, which is being leveraged to predict, diagnose, and treat diseases better than ever. Precision medicine is possible because of genomics, a growing branch of medicine that offers the possibility to treat disease more accurately than has been possible before.
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Here, we discuss how genomics is used in all areas of science, how this might develop in the future, and the global market outlook.
Application Areas of Genomics
Several genomics applications have been established in the two decades since the human genome was uncovered. First, genomics is being leveraged in rare diseases to facilitate gene discovery in rare diseases and help develop better diagnostic tools for monogenic disorders.
Genomic technologies have been established that allow clinicians to diagnose patients with high-risk genetic errors that underpin rare diseases. Currently, researchers are using genomic techniques to uncover genes that cause disease. The number of diseases with a single genetic cause is rapidly increasing; over 4,000 have already been identified.
Genomics is also being used to contribute to our understanding of more common diseases and conditions. High blood pressure, cancer, and diabetes, for example, are now better understood in terms of how genetics contribute to the manifestation and progression of such diseases/conditions.
One particularly important application of genomics is in pharmacogenetics and targeting therapy. Scientists can use genetic information to predict how a particular patient will respond to a given drug, which allows doctors to make personalized decisions about treatment options. In cancer treatment, genetic drivers of the disease can be identified, allowing drugs to be chosen that target the specific pathway implicated.
Prenatal diagnosis and testing have also greatly benefited from the development of genomics. Genetic diseases can be fatal to children. Therefore, prenatal testing is vital to enabling treatment decisions to be made early, before birth. Previous prenatal diagnostic approaches put the pregnancy at risk. Fortunately, novel genomics technology is able to look at the baby's DNA via a maternal blood test.
One field of medical science leveraging genomics that has gained much attention in recent years due to the COVID-19 pandemic is infectious diseases. Genomic sequencing tools enable scientists to trace the cause of infectious outbreaks and reveal vital information that helps researchers to understand which antibiotics may be most effective against a certain pathogen.
Gene therapy is an entire sector of medicine that exists because of what has been achieved in genomics. Genetic abnormalities that underlie disease can be identified and targeted, and DNA or RNA is used to correct the abnormality or modify gene expression. Similarly, genomics is being leveraged to allow for genome editing to occur. Gene editing techniques such as CRISPR-Cas9 would not be possible without genomics.
Finally, genomics is being leveraged to develop precision medicine. This approach to therapeutics leverages the DNA sequences to understand each patient's disease susceptibilities and likely treatment responses to guide treatment.
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Hot Topics in Genomics
Precision medicine has undoubtedly been in the spotlight for a number of years. However, in the coming years, it is predicted that the topics of gene regulation and the brain, as well as third-generation sequencing (TGS), will be making waves in the field of genomics.
The human brain is organized into four levels. The lowest is the genome level; next is the transcription-factor-gene (TF-gene) network level, which is based on molecular phenotypes and gene regulation; the synaptic epigenesist level is third; the highest is the long-range connectivity level, which is related to individual consciousness and social life. Genomics allows us to look into the TF-gene network, and currently, much research is emerging revealing how cognitive disease and behaviors are controlled via genetic changes. In the coming years, we will likely see more revelations on how genetic regulations are connected with diseases such as Autism Spectrum Disorder (ASD).
Third-generation sequencing (TGS) is considered the third revolution in sequencing technology. Since the introduction of Sanger Sequencing in 1977, the first revolution in sequencing, technology has greatly advanced. Next Generation Sequencing (NGS) followed, which allowed scientists to perform high-throughput sequencing faster, cheaper, and more efficiently than Sanger Sequencing.
Now TGS is being leveraged to keep up with the evolving demands of genomics research. New TGS technologies allow us to explore genomes at an unprecedented resolution, and it is predicted that TGS will soon become the new standard in DNA sequencing.
Current Global Market of Genomics
The global genomics market was valued at $24.16 billion in 2021 and is predicted to grow rapidly at a CAGR of 16.4% from 2022 to 2030 to reach more than $100 billion. Growth in the market will be driven by the rapidly increasing demand for gene therapy, precision medicine, drug discovery, and the increased incidence of cancer worldwide. Additionally, there have been several joint ventures and partnerships amongst key market players in recent years that will further propel market growth. For example, in June, Illumina, Inc. and Allegheny Health Network entered into a partnership to explore the impact of Comprehensive Genomic Profiling (CGP).
Currently, North America represents the largest market share holder, with 42.5% of the market in 2021. This sizable market share is largely due to this region's many research institutes and pharmaceutical companies. Partnerships in this region are also driving the market growth. In January 2022, for example, Illumina, Inc. announced its collaboration with Nashville Biosciences, LLC (part of Vanderbilt University Medical Center at Tennesee).
Key industry players include Agilent Technologies, Bio-Rad Laboratories, Inc., BGI Genomics, Color Genomics, Inc., Danaher Corporation, Eppendorf AG, Eurofins Scientific, F. Hoffmann-La Roche Ltd., GE Healthcare, Illumina, Inc., Myriad Genetics, Inc., Oxford Nanopore Technologies, Pacific Biosciences of California, Inc., QIAGEN N.V., Quest Diagnostics Incorporated, Thermo Fisher Scientific, Inc., and 23andMe, Inc.
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Future Directions for Genomics
The future of genomics will be driven by demand from the health sector. Genomics is vitally important to diagnosing and treating disease. Trends in diseases such as cancer will likely shape the directions in which genomics technologies develop.
While in their third revolution, genomics technologies have a long way to go before they reach their potential. Over the next decade, we will likely see vast improvements in genomics technologies and new capabilities emerge. As a result, genomics will be leveraged in more clinical applications.
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