The genome is the complete set of information in an organism’s DNA. A DNA molecule consists of two long chains or strands. Each DNA chain contains a genetic code written using only four letters, which represent nucleotide subunits or bases: adenine (A), guanine (G), thymine (T), and cytosine (C). Their order determines the instructions in a DNA strand. Each DNA chain is twisted to form a double helix.
Humans are estimated to have between 20,000 and 25,000 genes, the smallest heredity units. Humans have two copies of each gene, inheriting one from each parent. The human genome contains both protein-coding genes and non-protein-coding genes. In humans, genes may consist of only a few hundred or more than 2 million DNA bases
Scientists and doctors have been studying genes and hereditary conditions (those handed down from parent to child) for many years. These days, it’s possible for someone to have a genetic test for a number of illnesses. A blood sample is taken and closely examined for abnormal chromosomes, but because so much information is stored on the DNA, scientists only tend to look for particular disorders.
Genomic medicine is the study of our genes (DNA) and their interaction with our health. Genomics investigates how a person’s biological information can be used to improve their clinical care and health outcomes (eg through effective diagnosis and personalised treatment.
While genetics looks at specific genes or groups of ‘letters’ along the DNA strand, genomics refers to the study of someone’s entire genetic makeup. It’s about how they relate and react with each other and is associated with conditions that have a broader range of triggers such as diabetes, heart disease, cancer and asthma.
Genomic medicine is an interdisciplinary medical specialty involving the use of genomic information that has rapidly grown since the completion of the Human Genome Project (HGP) more than a decade ago.
The Human Genome project paved way to focus on targeted therapy as an effective disease management regime. Started in 1990, it took 13 years to sequence around 20,000 genes and understand how they work together. Most of the map was completed by 2003, sparking thousands of medical discoveries — from cancer treatments to hereditary-disease fixes to organ revitalization.
Synthetic biology It can be defined as engineering approach to biology. And it aims to re-design of natural biological systems for useful purposes as well as design and construction of new biological parts, devices, and systems.
How it does it? Any organism’s sensing, metabolic, and decision-making capabilities depend on unique sequence of DNA bases within their genome. These DNA base pair sequences determine how a cell grows and what goes on inside it or what it produces. By changing an organism’s genome sequence, we can alter these cellular functions, and thereby engineer them.
Let’s now consider some of the technologies and tools of synthetic biology which allow us to engineer biological systems. The first technology is to read DNA or DNA Sequencing, that determines the order of the DNA base pairs or biological instructions that are contained in a strand of DNA. A difference from the expected sequence of a gene is called a variant or mutation. Comparing healthy and mutated DNA sequences scientists can diagnose different diseases including cancers and deliver more individualized medical care. CRISPR Cas9 offers considerable promise to cure several cancers, solid tumors, melanoma, leukemia, HIV, β-thalassemia, sickle-cell anemia, and other diseases.
The rapid speed of modern DNA sequencing technology has enabled sequencing of complete genomes of numerous types and species of life, including microbes, animals, plants, and the human genome.
This technology is helping growth of entire genome repositories. One such example is International Nucleotide Sequence Database Collaboration (INSDC) databases that contains data of more than 100 billion base pairs. These databases provide information on naturally occurring organisms from which synthetic biologists can construct parts and devices. The synthetic biology products have also multiplied as our DNA Sequencing technology has become better and cheaper.
The second is gene editing technology, and CRISPR has become one of the most popular gene editing tools as it is fast, cheap, and easy to use. It can locate, cut, and replace DNA sequences at specific locations modifying the function of that gene. CRISPR uses modified RNA sequence to recognize DNA sequence in genome and bind to it. The RNA also binds to the Cas9 enzyme that cuts the DNA at the targeted location. CRISPR enables Gene therapy that add, delete, or correct genetic material to treat a disease.
The technique enables scientists to change and turn on and off a cell’s hereditary instructions. The discovery has had wide-ranging impacts on medicine. It is being used to treat previously incurable diseases, such as sickle cell disease, and to develop new medical diagnostic tools, such as optogenetics, that enable researchers to look more deeply into how the brain functions.
Next technology is DNA synthesis that is the natural or artificial creation of DNA molecules. We have already seen natural creation, during cell division DNA helix splits itself and each strand of DNA serve as a pattern for duplicating the sequence of bases. This is natural DNA synthesis process is called DNA replication as it self-replicates or make copies of itself.
Another is Polymerase chain reaction (PCR), that amplifies DNA sequences. Short DNA sequences called primers are used to select the portion of the genome to be amplified. The temperature of the sample is repeatedly raised and lowered so that DNA replication enzyme copy the target DNA sequence. The technique can produce a billion copies of the target sequence in just a few hours, making them large enough to study in detail. It is also useful in making genetic fingerprints and criminal forensics.
With innovations such as short-read and long-read technologies, sequencing of DNA molecules can be done in real-time, analysing lengths of genes in the human body. This helps in procuring results in a faster and adept manner. Various other technologies have already made it to clinical trials, although ethical concerns and data privacy issues remain.
Biotechnologies, including synthetic biology, are going to be foundational to the 21st century economy. Synthetic biology is already a multi-billion-dollar industry with broad range of applications in health and medical sector, energy, chemical, environmental, food and agriculture. Synthetic biology can accelerate precision medicine and create more effective therapies such as targeted chemotherapy. Syn bio products are also more durable, generate less waste, and are healthier for humans in most cases.
In today’s age, it is possible to get a DNA sequencing test done in little time, and at an affordable cost. This has dynamically paved the way for early diagnosis and targeted treatment of diseases; we can now identify the genetic risk of developing a disease long before the actual symptoms show up and, in some cases, can identify if the unborn child has inherited a disease which can be prevented or treated at the right time. Most cancers are hereditary and necessary measures can be taken to slow down or stop their development.
For Doctors — access to genomic information helps with diagnosis, managing treatments, and spotting symptoms across a wider cohort of patients. There have been a few cases where cerebral palsy diagnosis has been re-evaluated in the light of genetic testing, revealing a new diagnosis and, as a result, a new, effective treatment plan.
To assess risk — someone’s genetic makeup can show their susceptibility to suffer certain illnesses, like heart disease, stroke, and cancer. Perhaps they’re likely to have high cholesterol levels or to suffer problems with their veins. Possessing this knowledge means they can manage the risk through medicines, medical intervention, or making positive lifestyle changes.
Where there is a family history of serious genetic disorders, it can tell prospective parents whether or not they are a carrier and if they can pass it on to their children. It can also tell someone if they are likely to develop the inherited condition later in life, even if they don’t yet have any symptoms.
Prenatal tests that take place during pregnancy — either to screen (just in case something is wrong with the baby) or where there is already a family history. It helps the parents to make informed choices and plans for the future.
Personal — each patient has medicines, treatment, and a health care plan tailored to them and their individual needs and risks. As an example, take the treatment of colorectal cancers. Some people with a particular gene mutation have better survival rates when treated with a non-steroidal anti-inflammatory, such as aspirin, than those without this mutation.
The end goal of precision medicine is that instead of a “one size fits all” approach by disease type, medicine will be informed by a genetic understanding of the disease. Precision medicine involves studying the genome and considers factors like where a person lives, what they do, and what their family health history is. The goal is to develop targeted prevention or treatment approaches to help specific individuals stay healthy or get better instead of relying on approaches that are the same for everyone.
The broad area known as genomic medicine is evolving — the study of genetic mutation pathways and their variations is particularly exciting. But what does this mean for people on a practical level? As discussed earlier, there are some hereditary diseases that are difficult to diagnose simply because of the wide range of genes involved.
Scientists are working towards finding a chemical or genetic bottleneck for conditions like these. The ability to switch off a vital reaction along the pathway from genetic trigger to hay fever, dust allergy, or asthma, for example, would aid diagnosis and treatment, and possibly whether or not these traits need cause misery for the next generation.
The emerging field of epigenetics takes this idea one step further. It’s based on the concept that each gene has its own chemical tag that tells the gene how to act. It is possible to turn the gene off (make it dormant) or turn it on (make it active) according to its chemical tag. In this way, the genetic code remains the same but the way in which it is expressed changes.
This is a very exciting development. If things such as what we eat and drink and how much we sleep affect the way our genetic code manifests itself, what are the implications for disease and ageing? The times when genes are switched from a healthy, normal state into one that causes disease and the end of life?
These chemical modifications can also be passed on to the next generation, creating a more variable level to genetic inheritance. In other words, your lifestyle choices can affect your child’s health in a negative or positive way on a basic, biological level.
Global Genomic Medicine Market
Rising government investment in the precision medicine is expected to drive the market growth. Some of the other factors such as increasing application area of genome, increasing number of genomics project and increasing usage for advanced sequencing in cancer pharmacogenomics & rare disorder diagnosis which will further accelerate the genomic medicine market in the forecast period of 2020 to 2027.
Dearth of awareness among healthcare providers, volatility in the regulation scenario and lack of adoption of genomic medicine will hamper the market growth.
Genomic medicine market is segmented of the basis of application and end user. The growth amongst these segments will help you analyse meagre growth segments in the industries, and provide the users with valuable market overview and market insights to help them in making strategic decisions for identification of core market applications.
Based on application, the genomic medicine market is segmented into oncology, cardiology, paediatrics, endocrinology, respiratory medicine, rare genetic disorders, infectious diseases, and others.
On the basis of end- user, the genomic medicine market is segmented into hospitals, clinics, academic institutions, and research institutions.
North America dominates the genomic medicine market in the forecast period of 2020 to 2027. This is due to increasing R&D in the genomic medicine and availability of various universities offering education programs on genomic medicine.
The major players in the genomic medicine market are BioMed Central Ltd, Cleveland Clinic., Genome Medical, Inc., Aevi Genomic Medicine, Inc., DEEP GENOMICS, Congenica Ltd., Editas Medicine, among other domestic and global players.
Replay, a genome writing company reprogramming biology by writing and delivering big DNA, has launched with $55 million in seed financing.
Replay’s genomic medicine toolkit comprises several synergistic technology platforms, including synHSV – a high payload capacity HSV vector able to deliver up to 30 times the payload of AAV. synHSV facilitates the delivery of large genes, genomic genes, multiple genes, and multiple transcriptional activators and repressors, thereby extending the reach of genomic medicine and opening up the possibility of polygenic therapy.
Another platform is uCell – a universal, renewable, off-the-shelf, genomically rewritten, hypoimmunogenic iPS cell source for regenerative medicine and cell therapy.
The company’s DropSynth is a genome writing platform enabling rapid, efficient, and low-cost synthesis of libraries of synthetic genes and big DNA, while LASR is an evolutionary inference algorithm platform for rewriting proteins to optimize functionality.
References and Resources also include: