What Is Genomic Medicine?
Genomic medicine is an interdisciplinary medical specialty that involves the use of genomic information after the successful completion of the intensive study of the Human genome project (HGP) in 2003, which involved sequencing the complete human genome from DNA samples collected by volunteers over a period of thirteen years coordinated by the National Institutes of Health and the US Department of Energy.
Oncology, pharmacology, rare and undiagnosed disorders, and infectious diseases are some of the areas where genomic medicine is determined to play a pivotal role. It showcases how the understanding of a genome can impact a person’s health in regard to diagnosis, treatment planning, the prognosis of the treatment, and the well-being of that individual.
Genomic medicine is backed by evidence-based research and, thus, is gaining popularity. It is the latest advancement in the field of medicine and is associated with ethical, legal, and social implications.
A major contributor to genomic medicine was Rosalind Franklin's discovery of the structure of DNA and for producing an X-ray image of DNA which facilitated James Watson, Francis Crick, and Maurice Wilkins, who was awarded the Nobel Prize for the discovery that two molecules paired to form the double helix in 1953.
The Human genome project helped scientists estimate that humans have between 20,000 and 25,000 genes, which are the smallest units of heredity. The complete set of 20,000 to 25,000 genes together forms a genome. Thus, a genome is a complete set of instructions in the form of DNA that tells the body how to grow and develop. Genomic medicine helps identify risk factors for certain diseases, including cancer and other rare childhood diseases.
What Is Genomic Sequencing?
Genomic sequencing is the process of mapping a full set of genes in DNA. More than 6,000 conditions are determined that can possibly be diagnosed by genomic sequencing. Thus, genomic sequencing facilitates accurate diagnosis, treatment planning, and determining treatment outcomes for congenital health conditions, developmental disabilities, and rare childhood diseases, and accurate treatment planning and treatment outcomes as well.
Are Genetic Medicine and Genomic Medicine the Same?
No, they are not the same. Genetics refers to the specific genes that an individual has inherited. The study of genetics focuses on individual genes and how they function.
Genomic medicine, on the contrary, is a wider ensemble because it invariably involves having all of the DNA in all of an individual’s genes mapped out in a process called genomic sequencing.
What Are the Benefits of Genome Sequencing?
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It is absolutely significant and beneficial to know how a correct diagnosis can result in accurate treatment planning and the treatment outcome as well.
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It benefits a child with a serious condition where a diagnosis is not obtained despite all the medical evaluations. It is possible that getting a child’s genome sequenced might help determine the cause of the child’s intellectual disability, delay in growth and development, seizures, limb abnormalities, frequent infections, or any other issues.
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It also benefits cancer patients as studies and research suggest that genomic sequencing is more useful than traditional genetic tests for matching blood cancer patients with the best treatment approach.
What Are the Advantages of Genomic Medicine?
Genomic medicine is a game changer as it determines the genetic predisposition to heart disease, cancer, or any other medical condition. This acts as a warning sign and enables an individual to make lifestyle interventions and take medical help at the earliest to ward off or lower the potential risk.
What Are the Disadvantages of Genomic Medicine?
Genomic medicine is the newest advancement, and scientists are still working to understand the nature of all the genes that constitute a genome in the body. Thus, the results can vary with uncertainty. However, genomics is not routinely included in approximately half of the clinical trials. Although the cost of genetic testing is decreasing, it remains expensive depending on the test's complexity. The integration of genomics necessitates a great deal of specialized knowledge from data analytics, bioinformatics, and counselors, making it more difficult and costly to complete.
What Are the Advances in Genomic Medicine?
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Precision Medicine:
Genomic medicine aims to establish a treatment approach by treating a disease with a genetic understanding of the disease instead of a more general “one size fits all” approach. This is possible with precision medicine as it involves studying the genome and also considers other important factors of an individual’s whereabouts, like where a person lives, familial details, and health history. Instead of relying on treatment approaches that are the same for everyone, the goal is to establish targeted prevention or treatment approaches to help specific individuals stay healthy or get better. 'All of Us,' the largest precision medicine research study in the United States, was launched in 2018 with one million participants.
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Omics:
Genomic medicine also focuses on the study of other biological processes of a living organism, along with the study of genes. It also includes and is not limited to pharmacogenomics (role of the genome in drug response), epigenomics (alterations in methylation and histone of the genome), proteomics (the complete set of proteins in cells), transcriptomics (the complete set of RNA transcripts in cells), metabolomics (collective study of small molecules), and metabonomics (study of metabolic processes).
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Genetic Testing:
There are two ways of genetic testing available:
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Clinical Gene Test: A clinical genetic test is performed in a clinical setting where patients have access to trained medical professionals, such as genetic counselors, to assist them in interpreting the results. The genetic counselor helps interpret and counsel the patient.
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Direct-to-consumer (DTC) Genetic Testing: It is done at home with a simple test kit obtained online. A few examples of DTC genetic test kits commonly available are 23andMe, My Heritage DNA, National Geographic Geno 2.0, Habit, Pheramor, and AncestryDNA, DNAFit. The validity of DTC genetic tests is variable, and since it is done at home, the results are not interpreted by a genetic counselor or a medical practitioner, so there are high chances of the results being misinterpreted or creating a false alarm, or a potential risk factor being missed out or ignored.
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Gene Therapy:
Gene therapy is a type of treatment that cures a rare condition or disease by correcting the underlying genetic cause of the disease by inserting a healthy foreign genetic material into a person's cells. As a result, gene therapy aids precision medicine. Leber congenital amaurosis, an eye disorder, and spinal muscular atrophy, a muscle disorder, are among the diseases being treated with gene therapies.
Conclusion:
In a nutshell, genomic medicine entails correct diagnosis and treatment planning and provides insight into the treatment prognosis. Genomic medicine is the future of medicine and an emerging medical discipline that involves using genomic information about an individual in determining diagnostic or therapeutic decision-making and the health outcomes and policy implications of that clinical use.
