In this detail blog, I will discuss about what is Genomics with it’s advantages and disadvantages in clinical trials. You will learn almost everything about genomics in this article.
The study of human chromosomes and genes is known as genomics. There are 24,000 genes and 23 pairs of chromosomes in the human genome.
To better understand a patient’s molecular biology, genome and DNA sequencing, which pinpoints the precise structure of a DNA molecule, is used in medicine.
Genetic variations and mutations are revealed through genomic analyses of patients’ genetic make-up.
Instead of treating patients uniformly, all of that information may be utilized to create a treatment plan that is tailored to each patient’s unique genetic makeup.
Table of Contents
What is Genomics?
The field of genomics is the study of the genetic makeup of organisms. This includes all the DNA (deoxyribonucleic acid) and proteins within an organism.
Genomics can help scientists understand how diseases are caused, how diseases are spread, and how to prevent them. It can also help researchers develop new treatments for diseases.
What genomics is used for?
Human genetics has various uses in the fields of medicine, biotechnology, anthropology, and other social sciences.
Next-generation genomic technologies can gather more genetic data for use in medicine. The integration of all of this information is made possible when this data is integrated with informatics.
By doing this, researchers are better able to comprehend genetically-based illness and treatment response, which also aids in the pursuit of tailored therapy.
The time-consuming process of mapping the human genome results in a terabyte (TB) of disorganized data.
More healthcare professionals will utilize this data to diagnose and treat patients as well as provide clinical decision support as technology develops and makes it simpler to store, understand, and use data.
The effectiveness of genomic sequencing has improved. The identical data set, which was examined for 18 months as part of the 1,000 Genomes Project, was analyzed by Nationwide Children’s Hospital in Columbus, Ohio, in one week.
The first large-scale genome sequencing study, which potentially aids public health management, was that one.
The objective of several pilot initiatives has been to integrate genomics capabilities into the electronic health record (EHR) systems used by clinicians.
Genomics is regarded as a component of customized or precision medicine, a medical practice that tailors therapy to the requirements and genetic makeup of each patient.
DNA sequencing is necessary for genomics
The process of “whole genome sequencing” requires figuring out the genome’s whole DNA sequence.
An organism’s chromosomal DNA, as well as the DNA found in its mitochondria and chloroplasts for plant research, must all be sequenced in order to do this.
A genome must first be divided into several tiny pieces before being sequenced. This requires determining the sequence of each little bit of DNA in order to identify which parts fit together.
To identify the sequence’s order, early DNA sequencing methods focused on analytical chemistry and molecular separation methods. It took a lot of time for the sequences to be analyzed.
A combination of improvements in these methods and equipment that enabled the simultaneous reading of far more DNA strands—partially as a result of automation and imaging technology—sped up the process. Sequencing equipment is becoming more compact and less expensive to utilize.
Massive volumes of genomic data—possibly 1 TB of data for a human genome—come along with that sequencing. So from a practical perspective, storage technology also contributes to genomics.
An article published in the journal Genomics in 2016 stated that advancements in molecular biology, automation, and sequencing protocols “increased the technological capabilities of sequencing while decreasing the cost, allowing the reading of DNA hundreds of basepairs in length, massively parallelized to produce gigabases of data in one run.”
Types of Genomics
Genomic research and experimentation are being conducted for a variety of reasons. Here are some examples of the many kinds of genomics:
- Determine the structure of each protein encoded by the genome using structural genomics.
- The goal of functional genomics is to gather and utilize data from sequencing to describe the functions of genes and proteins.
- The goal of comparative genomics is to contrast the genetic characteristics of several species.
- The study of mutations that arise in a person’s DNA or genome is known as mutation genomics.
Genomics and family assessments
The health history of one’s family may often disclose vital risk factors for both common and chronic illnesses.
Establishing a family history is crucial for both public and preventative health. According to experts, family history analyses provide a number of benefits, such as saving healthcare costs and reflecting common genetic and environmental risk factors.
Genomic research on family members may provide further hints about the illnesses that a family’s gene pool may be predisposed to.
Genomics, genetics and proteomics
People often inquire about the distinctions between genomics and genetics.
The primary distinction between the two fields is that whereas genetics focuses on how genes and their qualities are inherited, genomics examines all genes, or the genome, as well as their interactions to determine how they collectively affect the growth and development of the organism.
The study of all the proteins that make up an organism or kind of cell’s proteome is known as proteomics.
The proteome of an organism changes, but the genome remains fixed. Even if an organism’s cells all have the same set of genes, the proteins that are made vary and rely on gene expression.
Historical background of genomics
The discovery of isotopes and the radiolabeling of biological molecules occurred in the 1950s, after the discovery of DNA in 1869. Scientists James D. Watson and Francis H.C. Crick published a description of the DNA helix at this period in 1953.
But Frederick Sanger, a scientist, sequenced the first genome in the 1970s, which is when contemporary genomics truly got underway.
In the early 1970s, he sequenced the genomes of a virus and a mitochondrion. Sanger and his colleagues have developed methods for genomic mapping, data storage, sequencing, and other fields.
Walter Fiers is a different scientist who made a significant contribution to contemporary genomics. He and his research group from the University of Ghent’s Laboratory of Molecular Biology in Belgium became the first to sequence a gene in 1972.
The National Institutes of Health and the U.S. Department of Energy established the Human Genome Project in 1990 as a publicly financed global genomics research initiative to map the human genome’s sequence and identify the genes it contains.
This team set out to sequence and catalog each of the three billion molecular building blocks that make up the human genome. To identify the genetic causes of illness and aid in the development of remedies, this was done.
The Human Genome Project also sought to make all information on the human genome sequence openly and freely accessible within 24 hours of its assembly. For 13 years, the project was in progress.
In the beginning of 2015, former American president Barack Obama unveiled a $215 million Precision Medicine Initiative.
The project attempted to personalize medical treatment for people according to their genes, lives, and surroundings. As part of the program to investigate cancer genomes, the National Cancer Institute got $70 million.
Genomes change in size or sequence throughout time. As more and more genomes are sequenced and made accessible to the scientific community and the general public, the study of genome evolution encompasses many different domains and is continually evolving.
Advantages of Genomics in clinical trials
The integration of genetic testing into clinical trials is one of the areas where genomics has the most promise to advance precision medicine and increase therapeutic effectiveness.
The FDA has made a compelling case for using genetics in trials.
The necessity to optimize the value of the gathered samples and the data produced from them has arisen as a result of scientific advancements and growing awareness of the significance of genetics.
Therefore, gathering genetic samples is highly advised at all stages of researches of clinical development.
A brief review of the possibilities for genomics-based clinical trials and how they might be used to enhance trial success and quicken the speed of clinical research is available here:
Consider the origins of variation
To take into consideration the diversity in medication response, clinical trials increasingly use genetics. The genetic variations among participants may help researchers find biomarkers linked to the clinical patient outcome, which is important for medication development.
“The discovery of genetic biomarkers driving variability in medication response may be beneficial to optimize patient care, design more effective trials, and guide drug labeling,” the FDA claims.
Stratification of Patients
Using genetics to classify individuals into subgroups might aid in patient recruitment for clinical studies. The stratification of patient populations may aid in identifying the best trial participants, accelerating studies and removing failed treatments sooner.
Teams may be able to save costs and accelerate the time it takes to market by eliminating unsuccessful medicines. To guarantee that therapies provide excellent value for money, payers are likely to require stratification in the future.
Creating international research platforms
While patient stratification may make a study more successful, for certain studies, especially those involving uncommon disorders, the patient identification procedure may lengthen.
In order to expand their reach and raise awareness of their trials, clinical researchers may want to think about developing research platforms where they may engage in collaborations and cooperative projects.
Enhanced patient involvement
Patient participation may be increased by incorporating genetics into studies and providing continuing support for the patient groups.
This kind of interaction has been demonstrated to boost patient participation in the study, increase efficiency, and increase chances of reaching them for follow-up research or pharmacovigilance.
Advancing the field of personalized research
The future of personalized medical research with data sharing may benefit from the increasing acceptance of genomics in clinical trials.
Disadvantages of Genomes in clinical trials
About 40% of clinical studies do not usually use genomics. reasons individuals would not include genomics in their studies, with a summary available here:
Even while the price of genetic testing is decreasing, depending on how sophisticated the test is, it is still pricey. A study that uses biomarkers to stratify patients may be more effective, but the initial cost of sequencing patient groups may be high.
However, it is expected that the process of incorporating genetic testing may become much more inexpensive for clinical trials as the cost of sequencing continues to decline.
Similarly, if the use of genetic sequencing increases, it would be able to use previously collected information by selecting people who have already had their genomes sequenced.
It takes a lot of specialized knowledge from data analytics, bioinformatics, and counselors to integrate genomics. Genetic integration may be more difficult and costly to carry out if a particular team lacks appropriate expertise.
Although there are businesses that provide counseling and analytics services, trial organizers should take this into account as well.
Using genetic data to recruit may not be essential if the experiment does not call for a very particular set of participants. Nevertheless, employing biomarkers for recruitment has often decreased failure rates.
Some disorders (such as infectious diseases) may not have a genetic component, or a patient’s genetic makeup may not have an impact on their treatment choices. Given the higher expenses in these situations, it may be challenging to defend the use of genetic data in the clinical study.
While there are still methods to use genomic data to assess the security or effectiveness of medications for non-genetic disorders, doing so may not always be appropriate.
When genomics are included into clinical trials, it’s likely that scientists may discover alleles in the participant’s genome that are connected to other, harmful illnesses.
Data processing, confidentiality, and whether the patient should be informed are issues that are raised by this. The queries additionally
highlight the requirement for a wider array of tools and assistance initiatives to aid participants in comprehending any fresh data that may be discovered about them.
Even while it is debatable whether or not most trials might benefit from examining the possibilities of genomics, not all organizations will embrace the integration due to one or more of the aforementioned factors.
Decision-makers will be better able to make decisions about whether to invest in integrating genomics into their trials with the support of more training and improved awareness of the possibilities of genomics, both from a patient viewpoint and in terms of cost-benefit.
Economic benefits of genomic medicine
Particularly in a society where the average lifespan is rising, genomic medicine will revolutionize health care and the economics of the country. Restoration of health guided by genomics and resulting increase in earning capacity result in personal economic gains.
By preventing unpleasant reactions and unneeded treatments, more accuracy in risk assessment lowers health care expenditures for both the person and the healthcare system.
By condensing genetic testing to a single study and informing people throughout their lives, genomic medicine offers the potential to make genetic diagnosis of illness a more effective and affordable approach.
Although reactions to genetic information will differ from person to person, individualized identification of risk may lead to the adoption of more efficient monitoring and preventative measures.
Genomic data and its use in technological advancements, medical research, and health care will also have a significant economic influence on the country, not only by lowering the cost of treating sickness and reducing productivity losses, but also by spawning new medical information enterprises.
Health systems throughout the globe face significant problems due to the increased aging of populations, rising health care expenses, and the weight of chronic illness.
The UK government has recently announced its investment in a project, to be managed by Genomics England, to sequence the genomes of 100,000 patients over the course of five years and to integrate genomic technology into its main stream healthcare system.
This investment demonstrates the UK government’s recognition of this imperative.
Future opportunities and difficulties
Major requirements must be met in order for clinical genomics to fully benefit the Australian population, including:
provide the foundation for EHR databases with suitable methods for patient permission, privacy protection, and data security, integrating patients’ medical and genetic data for clinical and research uses;
provide standardized systems for national and international knowledge exchange that record, share, and query fully integrated clinical and genomic information to produce results that are therapeutically valuable; and
Create well-thought-out, coordinated initiatives for professional and public education throughout the country to include clinicians, the medical community, and the public in realizing the full medicinal potential of genomics.
New methods for developing therapeutics, delivering healthcare, and managing population health are made possible by genomic analysis.
The dramatic prospects provided by individualized, precision genomic medicine are just now being realized by the global medical and scientific communities.
Australia will be positioned as one of the primary benefactors and pioneers in the adoption of genomic medicine with further investment in the infrastructure needed to collect and disseminate clinical and genetic data.